UniProtKB - P02533 (K1C14_HUMAN)
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- BLAST>sp|P02533|K1C14_HUMAN Keratin, type I cytoskeletal 14 OS=Homo sapiens OX=9606 GN=KRT14 PE=1 SV=4 MTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPSTYGGGLSVSSSRFSSG GACGLGGGYGGGFSSSSSSFGSGFGGGYGGGLGAGLGGGFGGGFAGGDGLLVGSEKVTMQ NLNDRLASYLDKVRALEEANADLEVKIRDWYQRQRPAEIKDYSPYFKTIEDLRNKILTAT VDNANVLLQIDNARLAADDFRTKYETELNLRMSVEADINGLRRVLDELTLARADLEMQIE SLKEELAYLKKNHEEEMNALRGQVGGDVNVEMDAAPGVDLSRILNEMRDQYEKMAEKNRK DAEEWFFTKTEELNREVATNSELVQSGKSEISELRRTMQNLEIELQSQLSMKASLENSLE ETKGRYCMQLAQIQEMIGSVEEQLAQLRCEMEQQNQEYKILLDVKTRLEQEIATYRRLLE GEDAHLSSSQFSSGSQSSRDVTSSSRQIRTKVMDVHDGKVVSTHEQVLRTKN
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Keratin, type I cytoskeletal 14
KRT14
Annotation score:5 out of 5
<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>Select a section on the left to see content.
<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.13"The nonhelical tail domain of keratin 14 promotes filament bundling and enhances the mechanical properties of keratin intermediate filaments in vitro."
Bousquet O., Ma L., Yamada S., Gu C., Idei T., Takahashi K., Wirtz D., Coulombe P.A.
J. Cell Biol. 155:747-754(2001) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH KERATIN FILAMENTS, SUBCELLULAR LOCATION.
Miscellaneous
Sites
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei | 364 | Stutter | 1 |
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- keratin filament binding Source: UniProtKB <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
- structural constituent of cytoskeleton Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi
- aging Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- cornification Source: Reactome
- epidermis development Source: ProtInc <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- hair cycle Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- hemidesmosome assembly Source: Reactome
- intermediate filament bundle assembly Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypei
- keratinization Source: Reactome
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-446107 Type I hemidesmosome assembly R-HSA-6805567 Keratinization R-HSA-6809371 Formation of the cornified envelope |
SIGNOR Signaling Network Open Resource More...SIGNORi | P02533 |
<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi | Recommended name: Keratin, type I cytoskeletal 14Alternative name(s): Cytokeratin-14 Short name: CK-14 Keratin-14 Short name: K14 |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi | Name:KRT14 |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>Organismi | Homo sapiens (Human) |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri | 9606 [NCBI] |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo |
| <p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi |
|
Organism-specific databases
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000186847.5 |
Human Gene Nomenclature Database More...HGNCi | HGNC:6416 KRT14 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 148066 gene |
neXtProt; the human protein knowledge platform More...neXtProti | NX_P02533 |
<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi
Cytoskeleton
- intermediate filament Source: BHF-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- keratin filament Source: MGI <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
Cytosol
- cytosol Source: Reactome
Extracellular region or secreted
- extracellular exosome Source: UniProtKBInferred from high throughput direct assayi
Nucleus
- nucleus Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
Other locations
- cytoplasm Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti
Cytoplasm, Intermediate filament, Keratin, Nucleus<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi
<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei
Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)18 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.7"Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex."
Chan Y.-M., Cheng J., Gedde-Dahl T. Jr., Niemi K.M., Fuchs E.
J. Invest. Dermatol. 106:327-334(1996) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 117-132, VARIANT DM-EBS ASP-129. - Ref.8"Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses."
Coulombe P.A., Hutton M.E., Letai A., Hebert A., Paller A.S., Fuchs E.
Cell 66:1301-1311(1991) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 118-126, VARIANTS DM-EBS PHE-122; CYS-125 AND HIS-125. - Ref.23"A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis."
Stephens K., Sybert V.P., Wijsman E.M., Ehrlich P., Spencer A.
J. Invest. Dermatol. 101:240-243(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT DM-EBS HIS-125. - Ref.26"Keratin 14 gene mutations in patients with epidermolysis bullosa simplex."
Chen H., Bonifas J.M., Matsumura K., Ikeda S., Leyden W.A., Epstein E.H. Jr.
J. Invest. Dermatol. 105:629-632(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS WC-EBS ILE-119; ASP-274; ASN-377 AND CYS-388, VARIANTS DM-EBS ARG-120; CYS-125 AND SER-125. - Ref.28"Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14)."
Shemanko C.S., Mellerio J.E., Tidman M.J., Lane E.B., Eady R.A.J.
J. Invest. Dermatol. 111:893-895(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT DM-EBS THR-119. - Ref.30"A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex."
Sasaki Y., Shimizu H., Akiyama M., Hiraoka Y., Takizawa Y., Yamada S., Morishima Y., Yamanishi K., Aiso S., Nishikawa T.
Br. J. Dermatol. 141:747-748(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT DM-EBS CYS-125. - Ref.31"Genomic keratin 14 mutation detection in epidermolysis bullosa simplex."
Hut P.H.L., van der Vlies P., Jonkman M.F., Shimizu H., Buys C.H.C.M., Scheffer H.
Eur. J. Hum. Genet. Suppl. 7:121-121(1999)Cited for: VARIANT K-EBS HIS-415, VARIANT DM-EBS GLN-419. - Ref.32"Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype."
Soerensen C.B., Ladekjaer-Mikkelsen A.-S., Andresen B.S., Brandrup F., Veien N.K., Buus S.K., Anton-Lamprecht I., Kruse T.A., Jensen P.K.A., Eiberg H., Bolund L., Gregersen N.
J. Invest. Dermatol. 112:184-190(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT WC-EBS ASN-116, VARIANT DM-EBS SER-123, VARIANT K-EBS PRO-143, VARIANT THR-94, SEQUENCE REVISION TO 25 AND 43. - Ref.33"Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential."
Shemanko C.S., Horn H.M., Keohane S.G., Hepburn N., Kerr A.I.G., Atherton D.J., Tidman M.J., Lane E.B.
Br. J. Dermatol. 142:315-320(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT DM-EBS HIS-125. - Ref.34"Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot analysis."
Hut P.H.L., van der Vlies P., Jonkman M.F., Verlind E., Shimizu H., Buys C.H.C.M., Scheffer H.
J. Invest. Dermatol. 114:616-619(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS DM-EBS CYS-125; HIS-125 AND GLN-419, VARIANTS K-EBS ASP-247 AND HIS-415, VARIANT WC-EBS LYS-422. - Ref.35"DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex."
Rugg E.L., Baty D., Shemanko C.S., Magee G., Polak S., Bergman R., Kadar T., Boxer M., Falik-Zaccai T., Borochowitz Z., Lane E.B.
Prenat. Diagn. 20:371-377(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS DM-EBS CYS-125 AND HIS-415, VARIANT K-EBS PRO-134. - Ref.36"Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes."
Cummins R.E., Klingberg S., Wesley J., Rogers M., Zhao Y., Murrell D.F.
J. Invest. Dermatol. 117:1103-1107(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT DM-EBS THR-119, VARIANT K-EBS VAL-119. - Ref.37"Epidermolysis bullosa simplex in Israel: clinical and genetic features."
Ciubotaru D., Bergman R., Baty D., Indelman M., Pfendner E., Petronius D., Moualem H., Kanaan M., Ben Amitai D., McLean W.H.I., Uitto J., Sprecher E.
Arch. Dermatol. 139:498-505(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS WC-EBS HIS-388 AND CYS-415, VARIANT DM-EBS HIS-125. - Ref.38"Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations."
Schuilenga-Hut P.H.L., Vlies P., Jonkman M.F., Waanders E., Buys C.H.C.M., Scheffer H.
Hum. Mutat. 21:447-447(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS DM-EBS PRO-130 AND GLN-419, VARIANT WC-EBS MET-408. - Ref.39"Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients."
Wood P., Baty D.U., Lane E.B., McLean W.H.I.
J. Invest. Dermatol. 120:495-497(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS DM-EBS SER-128 DEL AND PRO-416, VARIANT WC-EBS CYS-148. - Ref.40"Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex."
Csikos M., Szalai Z., Becker K., Sebok B., Schneider I., Horvath A., Karpati S.
Exp. Dermatol. 13:185-191(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS DM-EBS LYS-123 AND GLY-125, VARIANT WC-EBS LEU-133. - Ref.42"Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases."
Yasukawa K., Sawamura D., Goto M., Nakamura H., Jung S.-Y., Kim S.-C., Shimizu H.
Br. J. Dermatol. 155:313-317(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT WC-EBS VAL-119, VARIANTS DM-EBS HIS-125 AND CYS-125. - Ref.43"Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly."
Mueller F.B., Kuester W., Wodecki K., Almeida H. Jr., Bruckner-Tuderman L., Krieg T., Korge B.P., Arin M.J.
Hum. Mutat. 27:719-720(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS DM-EBS LYS-123; CYS-125; HIS-125 AND PRO-417, VARIANTS K-EBS LEU-133; THR-272 AND PRO-384, VARIANTS WC-EBS PRO-211 AND GLU-411 DEL.
Chan Y.-M., Cheng J., Gedde-Dahl T. Jr., Niemi K.M., Fuchs E.
J. Invest. Dermatol. 106:327-334(1996) [PubMed] [Europe PMC] [Abstract]
Coulombe P.A., Hutton M.E., Letai A., Hebert A., Paller A.S., Fuchs E.
Cell 66:1301-1311(1991) [PubMed] [Europe PMC] [Abstract]
Stephens K., Sybert V.P., Wijsman E.M., Ehrlich P., Spencer A.
J. Invest. Dermatol. 101:240-243(1993) [PubMed] [Europe PMC] [Abstract]
Chen H., Bonifas J.M., Matsumura K., Ikeda S., Leyden W.A., Epstein E.H. Jr.
J. Invest. Dermatol. 105:629-632(1995) [PubMed] [Europe PMC] [Abstract]
Shemanko C.S., Mellerio J.E., Tidman M.J., Lane E.B., Eady R.A.J.
J. Invest. Dermatol. 111:893-895(1998) [PubMed] [Europe PMC] [Abstract]
Sasaki Y., Shimizu H., Akiyama M., Hiraoka Y., Takizawa Y., Yamada S., Morishima Y., Yamanishi K., Aiso S., Nishikawa T.
Br. J. Dermatol. 141:747-748(1999) [PubMed] [Europe PMC] [Abstract]
Hut P.H.L., van der Vlies P., Jonkman M.F., Shimizu H., Buys C.H.C.M., Scheffer H.
Eur. J. Hum. Genet. Suppl. 7:121-121(1999)
Soerensen C.B., Ladekjaer-Mikkelsen A.-S., Andresen B.S., Brandrup F., Veien N.K., Buus S.K., Anton-Lamprecht I., Kruse T.A., Jensen P.K.A., Eiberg H., Bolund L., Gregersen N.
J. Invest. Dermatol. 112:184-190(1999) [PubMed] [Europe PMC] [Abstract]
Shemanko C.S., Horn H.M., Keohane S.G., Hepburn N., Kerr A.I.G., Atherton D.J., Tidman M.J., Lane E.B.
Br. J. Dermatol. 142:315-320(2000) [PubMed] [Europe PMC] [Abstract]
Hut P.H.L., van der Vlies P., Jonkman M.F., Verlind E., Shimizu H., Buys C.H.C.M., Scheffer H.
J. Invest. Dermatol. 114:616-619(2000) [PubMed] [Europe PMC] [Abstract]
Rugg E.L., Baty D., Shemanko C.S., Magee G., Polak S., Bergman R., Kadar T., Boxer M., Falik-Zaccai T., Borochowitz Z., Lane E.B.
Prenat. Diagn. 20:371-377(2000) [PubMed] [Europe PMC] [Abstract]
Cummins R.E., Klingberg S., Wesley J., Rogers M., Zhao Y., Murrell D.F.
J. Invest. Dermatol. 117:1103-1107(2001) [PubMed] [Europe PMC] [Abstract]
Ciubotaru D., Bergman R., Baty D., Indelman M., Pfendner E., Petronius D., Moualem H., Kanaan M., Ben Amitai D., McLean W.H.I., Uitto J., Sprecher E.
Arch. Dermatol. 139:498-505(2003) [PubMed] [Europe PMC] [Abstract]
Schuilenga-Hut P.H.L., Vlies P., Jonkman M.F., Waanders E., Buys C.H.C.M., Scheffer H.
Hum. Mutat. 21:447-447(2003) [PubMed] [Europe PMC] [Abstract]
Wood P., Baty D.U., Lane E.B., McLean W.H.I.
J. Invest. Dermatol. 120:495-497(2003) [PubMed] [Europe PMC] [Abstract]
Csikos M., Szalai Z., Becker K., Sebok B., Schneider I., Horvath A., Karpati S.
Exp. Dermatol. 13:185-191(2004) [PubMed] [Europe PMC] [Abstract]
Yasukawa K., Sawamura D., Goto M., Nakamura H., Jung S.-Y., Kim S.-C., Shimizu H.
Br. J. Dermatol. 155:313-317(2006) [PubMed] [Europe PMC] [Abstract]
Mueller F.B., Kuester W., Wodecki K., Almeida H. Jr., Bruckner-Tuderman L., Krieg T., Korge B.P., Arin M.J.
Hum. Mutat. 27:719-720(2006) [PubMed] [Europe PMC] [Abstract]
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010440 | 119 | M → T in DM-EBS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010441 | 120 | Q → R in DM-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_023720 | 123 | N → K in DM-EBS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010443 | 123 | N → S in DM-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_003837 | 125 | R → C in DM-EBS. 7 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_023721 | 125 | R → G in DM-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_003838 | 125 | R → H in DM-EBS. 7 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010444 | 125 | R → S in DM-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031634 | 128 | Missing in DM-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010445 | 129 | Y → D in DM-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_023722 | 130 | L → P in DM-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031639 | 416 | R → P in DM-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_027721 | 417 | R → P in DM-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_003845 | 419 | L → Q in DM-EBS. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)13 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.21"A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375."
Chen M.A., Bonifas J.M., Matsumura K., Blumenfeld A., Epstein E.H. Jr.
Hum. Mol. Genet. 2:1971-1972(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT WC-EBS GLU-375 DEL. - Ref.25"Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function."
Rugg E.L., Morley S.M., Smith F.J.D., Boxer M., Tidman M.J., Navsaria H.A., Leigh I.M., Lane E.B.
Nat. Genet. 5:294-300(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT WC-EBS MET-270. - Ref.26"Keratin 14 gene mutations in patients with epidermolysis bullosa simplex."
Chen H., Bonifas J.M., Matsumura K., Ikeda S., Leyden W.A., Epstein E.H. Jr.
J. Invest. Dermatol. 105:629-632(1995) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS WC-EBS ILE-119; ASP-274; ASN-377 AND CYS-388, VARIANTS DM-EBS ARG-120; CYS-125 AND SER-125. - Ref.27"Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex: increased severity of disease in a homozygote."
Hu Z.L., Smith L., Martins S., Bonifas J.M., Chen H., Epstein E.H. Jr.
J. Invest. Dermatol. 109:360-364(1997) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT WC-EBS ILE-119. - Ref.29"Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex."
Mueller F.B., Kuester W., Bruckner-Tuderman L., Korge B.P.
J. Invest. Dermatol. 111:900-902(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT WC-EBS GLY-273. - Ref.32"Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype."
Soerensen C.B., Ladekjaer-Mikkelsen A.-S., Andresen B.S., Brandrup F., Veien N.K., Buus S.K., Anton-Lamprecht I., Kruse T.A., Jensen P.K.A., Eiberg H., Bolund L., Gregersen N.
J. Invest. Dermatol. 112:184-190(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT WC-EBS ASN-116, VARIANT DM-EBS SER-123, VARIANT K-EBS PRO-143, VARIANT THR-94, SEQUENCE REVISION TO 25 AND 43. - Ref.34"Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot analysis."
Hut P.H.L., van der Vlies P., Jonkman M.F., Verlind E., Shimizu H., Buys C.H.C.M., Scheffer H.
J. Invest. Dermatol. 114:616-619(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS DM-EBS CYS-125; HIS-125 AND GLN-419, VARIANTS K-EBS ASP-247 AND HIS-415, VARIANT WC-EBS LYS-422. - Ref.37"Epidermolysis bullosa simplex in Israel: clinical and genetic features."
Ciubotaru D., Bergman R., Baty D., Indelman M., Pfendner E., Petronius D., Moualem H., Kanaan M., Ben Amitai D., McLean W.H.I., Uitto J., Sprecher E.
Arch. Dermatol. 139:498-505(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS WC-EBS HIS-388 AND CYS-415, VARIANT DM-EBS HIS-125. - Ref.38"Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations."
Schuilenga-Hut P.H.L., Vlies P., Jonkman M.F., Waanders E., Buys C.H.C.M., Scheffer H.
Hum. Mutat. 21:447-447(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS DM-EBS PRO-130 AND GLN-419, VARIANT WC-EBS MET-408. - Ref.39"Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients."
Wood P., Baty D.U., Lane E.B., McLean W.H.I.
J. Invest. Dermatol. 120:495-497(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS DM-EBS SER-128 DEL AND PRO-416, VARIANT WC-EBS CYS-148. - Ref.40"Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex."
Csikos M., Szalai Z., Becker K., Sebok B., Schneider I., Horvath A., Karpati S.
Exp. Dermatol. 13:185-191(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS DM-EBS LYS-123 AND GLY-125, VARIANT WC-EBS LEU-133. - Ref.42"Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases."
Yasukawa K., Sawamura D., Goto M., Nakamura H., Jung S.-Y., Kim S.-C., Shimizu H.
Br. J. Dermatol. 155:313-317(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT WC-EBS VAL-119, VARIANTS DM-EBS HIS-125 AND CYS-125. - Ref.43"Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly."
Mueller F.B., Kuester W., Wodecki K., Almeida H. Jr., Bruckner-Tuderman L., Krieg T., Korge B.P., Arin M.J.
Hum. Mutat. 27:719-720(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS DM-EBS LYS-123; CYS-125; HIS-125 AND PRO-417, VARIANTS K-EBS LEU-133; THR-272 AND PRO-384, VARIANTS WC-EBS PRO-211 AND GLU-411 DEL.
Chen M.A., Bonifas J.M., Matsumura K., Blumenfeld A., Epstein E.H. Jr.
Hum. Mol. Genet. 2:1971-1972(1993) [PubMed] [Europe PMC] [Abstract]
Rugg E.L., Morley S.M., Smith F.J.D., Boxer M., Tidman M.J., Navsaria H.A., Leigh I.M., Lane E.B.
Nat. Genet. 5:294-300(1993) [PubMed] [Europe PMC] [Abstract]
Chen H., Bonifas J.M., Matsumura K., Ikeda S., Leyden W.A., Epstein E.H. Jr.
J. Invest. Dermatol. 105:629-632(1995) [PubMed] [Europe PMC] [Abstract]
Hu Z.L., Smith L., Martins S., Bonifas J.M., Chen H., Epstein E.H. Jr.
J. Invest. Dermatol. 109:360-364(1997) [PubMed] [Europe PMC] [Abstract]
Mueller F.B., Kuester W., Bruckner-Tuderman L., Korge B.P.
J. Invest. Dermatol. 111:900-902(1998) [PubMed] [Europe PMC] [Abstract]
Soerensen C.B., Ladekjaer-Mikkelsen A.-S., Andresen B.S., Brandrup F., Veien N.K., Buus S.K., Anton-Lamprecht I., Kruse T.A., Jensen P.K.A., Eiberg H., Bolund L., Gregersen N.
J. Invest. Dermatol. 112:184-190(1999) [PubMed] [Europe PMC] [Abstract]
Hut P.H.L., van der Vlies P., Jonkman M.F., Verlind E., Shimizu H., Buys C.H.C.M., Scheffer H.
J. Invest. Dermatol. 114:616-619(2000) [PubMed] [Europe PMC] [Abstract]
Ciubotaru D., Bergman R., Baty D., Indelman M., Pfendner E., Petronius D., Moualem H., Kanaan M., Ben Amitai D., McLean W.H.I., Uitto J., Sprecher E.
Arch. Dermatol. 139:498-505(2003) [PubMed] [Europe PMC] [Abstract]
Schuilenga-Hut P.H.L., Vlies P., Jonkman M.F., Waanders E., Buys C.H.C.M., Scheffer H.
Hum. Mutat. 21:447-447(2003) [PubMed] [Europe PMC] [Abstract]
Wood P., Baty D.U., Lane E.B., McLean W.H.I.
J. Invest. Dermatol. 120:495-497(2003) [PubMed] [Europe PMC] [Abstract]
Csikos M., Szalai Z., Becker K., Sebok B., Schneider I., Horvath A., Karpati S.
Exp. Dermatol. 13:185-191(2004) [PubMed] [Europe PMC] [Abstract]
Yasukawa K., Sawamura D., Goto M., Nakamura H., Jung S.-Y., Kim S.-C., Shimizu H.
Br. J. Dermatol. 155:313-317(2006) [PubMed] [Europe PMC] [Abstract]
Mueller F.B., Kuester W., Wodecki K., Almeida H. Jr., Bruckner-Tuderman L., Krieg T., Korge B.P., Arin M.J.
Hum. Mutat. 27:719-720(2006) [PubMed] [Europe PMC] [Abstract]
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010438 | 116 | K → N in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031636 | 148 | R → C in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_027718 | 211 | R → P in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_003840 | 270 | V → M in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010448 | 273 | D → G in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010449 | 274 | A → D in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_003842 | 375 | Missing in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010450 | 377 | I → N in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010451 | 388 | R → C in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031637 | 388 | R → H in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_023724 | 408 | L → M in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_027720 | 411 | Missing in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031638 | 415 | Y → C in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010452 | 422 | E → K in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Epidermolysis bullosa simplex, Koebner type (K-EBS)10 Publications
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.9"A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex."
Yamanishi K., Matsuki M., Konishi K., Yasuno H.
Hum. Mol. Genet. 3:1171-1172(1994) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 118-126, VARIANT K-EBS PHE-122. - Ref.10"A novel mutation of cytokeratin 14 in a Japanese epidermolysis bullosa simplex family."
Fujiwara H.
Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databasesCited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 352-424, VARIANT K-EBS THR-413. - Ref.20"Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities."
Bonifas J.M., Rothman A.L., Epstein E.H. Jr.
Science 254:1202-1205(1991) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT K-EBS PRO-384. - Ref.22"A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex."
Humphries M.M., Sheils D.M., Farrar G.J., Kumar-Singh R., Kenna P.F., Mansergh F.C., Jordan S.A., Young M.M., Humphries P.
Hum. Mutat. 2:37-42(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT K-EBS ARG-272. - Ref.31"Genomic keratin 14 mutation detection in epidermolysis bullosa simplex."
Hut P.H.L., van der Vlies P., Jonkman M.F., Shimizu H., Buys C.H.C.M., Scheffer H.
Eur. J. Hum. Genet. Suppl. 7:121-121(1999)Cited for: VARIANT K-EBS HIS-415, VARIANT DM-EBS GLN-419. - Ref.32"Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype."
Soerensen C.B., Ladekjaer-Mikkelsen A.-S., Andresen B.S., Brandrup F., Veien N.K., Buus S.K., Anton-Lamprecht I., Kruse T.A., Jensen P.K.A., Eiberg H., Bolund L., Gregersen N.
J. Invest. Dermatol. 112:184-190(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT WC-EBS ASN-116, VARIANT DM-EBS SER-123, VARIANT K-EBS PRO-143, VARIANT THR-94, SEQUENCE REVISION TO 25 AND 43. - Ref.34"Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot analysis."
Hut P.H.L., van der Vlies P., Jonkman M.F., Verlind E., Shimizu H., Buys C.H.C.M., Scheffer H.
J. Invest. Dermatol. 114:616-619(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS DM-EBS CYS-125; HIS-125 AND GLN-419, VARIANTS K-EBS ASP-247 AND HIS-415, VARIANT WC-EBS LYS-422. - Ref.35"DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex."
Rugg E.L., Baty D., Shemanko C.S., Magee G., Polak S., Bergman R., Kadar T., Boxer M., Falik-Zaccai T., Borochowitz Z., Lane E.B.
Prenat. Diagn. 20:371-377(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS DM-EBS CYS-125 AND HIS-415, VARIANT K-EBS PRO-134. - Ref.36"Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes."
Cummins R.E., Klingberg S., Wesley J., Rogers M., Zhao Y., Murrell D.F.
J. Invest. Dermatol. 117:1103-1107(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT DM-EBS THR-119, VARIANT K-EBS VAL-119. - Ref.43"Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly."
Mueller F.B., Kuester W., Wodecki K., Almeida H. Jr., Bruckner-Tuderman L., Krieg T., Korge B.P., Arin M.J.
Hum. Mutat. 27:719-720(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS DM-EBS LYS-123; CYS-125; HIS-125 AND PRO-417, VARIANTS K-EBS LEU-133; THR-272 AND PRO-384, VARIANTS WC-EBS PRO-211 AND GLU-411 DEL.
Yamanishi K., Matsuki M., Konishi K., Yasuno H.
Hum. Mol. Genet. 3:1171-1172(1994) [PubMed] [Europe PMC] [Abstract]
Fujiwara H.
Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
Bonifas J.M., Rothman A.L., Epstein E.H. Jr.
Science 254:1202-1205(1991) [PubMed] [Europe PMC] [Abstract]
Humphries M.M., Sheils D.M., Farrar G.J., Kumar-Singh R., Kenna P.F., Mansergh F.C., Jordan S.A., Young M.M., Humphries P.
Hum. Mutat. 2:37-42(1993) [PubMed] [Europe PMC] [Abstract]
Hut P.H.L., van der Vlies P., Jonkman M.F., Shimizu H., Buys C.H.C.M., Scheffer H.
Eur. J. Hum. Genet. Suppl. 7:121-121(1999)
Soerensen C.B., Ladekjaer-Mikkelsen A.-S., Andresen B.S., Brandrup F., Veien N.K., Buus S.K., Anton-Lamprecht I., Kruse T.A., Jensen P.K.A., Eiberg H., Bolund L., Gregersen N.
J. Invest. Dermatol. 112:184-190(1999) [PubMed] [Europe PMC] [Abstract]
Hut P.H.L., van der Vlies P., Jonkman M.F., Verlind E., Shimizu H., Buys C.H.C.M., Scheffer H.
J. Invest. Dermatol. 114:616-619(2000) [PubMed] [Europe PMC] [Abstract]
Rugg E.L., Baty D., Shemanko C.S., Magee G., Polak S., Bergman R., Kadar T., Boxer M., Falik-Zaccai T., Borochowitz Z., Lane E.B.
Prenat. Diagn. 20:371-377(2000) [PubMed] [Europe PMC] [Abstract]
Cummins R.E., Klingberg S., Wesley J., Rogers M., Zhao Y., Murrell D.F.
J. Invest. Dermatol. 117:1103-1107(2001) [PubMed] [Europe PMC] [Abstract]
Mueller F.B., Kuester W., Wodecki K., Almeida H. Jr., Bruckner-Tuderman L., Krieg T., Korge B.P., Arin M.J.
Hum. Mutat. 27:719-720(2006) [PubMed] [Europe PMC] [Abstract]
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031635 | 134 | R → P in K-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010446 | 143 | L → P in K-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010447 | 247 | A → D in K-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_003841 | 272 | M → R in K-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_027719 | 272 | M → T in K-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_003843 | 384 | L → P in K-EBS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_023725 | 413 | A → T in K-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_003844 | 415 | Y → H in K-EBS. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1)1 Publication
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.24"A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex."
Hovnanian A., Pollack E., Hilal L., Rochat A., Prost C., Barrandon Y., Goossens M.
Nat. Genet. 3:327-331(1993) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT EBSB1 ALA-144.
Hovnanian A., Pollack E., Hilal L., Rochat A., Prost C., Barrandon Y., Goossens M.
Nat. Genet. 3:327-331(1993) [PubMed] [Europe PMC] [Abstract]
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_003839 | 144 | E → A in EBSB1. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Naegeli-Franceschetti-Jadassohn syndrome (NFJS)1 Publication
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.41"Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14."
Lugassy J., Itin P., Ishida-Yamamoto A., Holland K., Huson S., Geiger D., Hennies H.C., Indelman M., Bercovich D., Uitto J., Bergman R., McGrath J.A., Richard G., Sprecher E.
Am. J. Hum. Genet. 79:724-730(2006) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN NFJS, INVOLVEMENT IN DPR.
Lugassy J., Itin P., Ishida-Yamamoto A., Holland K., Huson S., Geiger D., Hennies H.C., Indelman M., Bercovich D., Uitto J., Bergman R., McGrath J.A., Richard G., Sprecher E.
Am. J. Hum. Genet. 79:724-730(2006) [PubMed] [Europe PMC] [Abstract]
Dermatopathia pigmentosa reticularis (DPR)1 Publication
<p>Manually curated information for which there is published experimental evidence.</p>
<p><a href="/manual/evidences#ECO:0000269">More...</a></p>
Manual assertion based on experiment ini
- Ref.41"Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14."
Lugassy J., Itin P., Ishida-Yamamoto A., Holland K., Huson S., Geiger D., Hennies H.C., Indelman M., Bercovich D., Uitto J., Bergman R., McGrath J.A., Richard G., Sprecher E.
Am. J. Hum. Genet. 79:724-730(2006) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN NFJS, INVOLVEMENT IN DPR.
Lugassy J., Itin P., Ishida-Yamamoto A., Holland K., Huson S., Geiger D., Hennies H.C., Indelman M., Bercovich D., Uitto J., Bergman R., McGrath J.A., Richard G., Sprecher E.
Am. J. Hum. Genet. 79:724-730(2006) [PubMed] [Europe PMC] [Abstract]
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Diseasei
Disease mutation, Ectodermal dysplasia, Epidermolysis bullosa, Palmoplantar keratodermaOrganism-specific databases
DisGeNET More...DisGeNETi | 3861 |
GeneReviews a resource of expert-authored, peer-reviewed disease descriptions. More...GeneReviewsi | KRT14 |
MalaCards human disease database More...MalaCardsi | KRT14 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 125595 phenotype 131760 phenotype 131800 phenotype 131900 phenotype 161000 phenotype 601001 phenotype |
Open Targets More...OpenTargetsi | ENSG00000186847 |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 86920 Dermatopathia pigmentosa reticularis 79397 Epidermolysis bullosa simplex with mottled pigmentation 79396 Epidermolysis bullosa simplex, Dowling-Meara type 79399 Generalized epidermolysis bullosa simplex, non-Dowling-Meara type 89838 KRT14-related epidermolysis bullosa simplex 79400 Localized epidermolysis bullosa simplex 69087 Naegeli-Franceschetti-Jadassohn syndrome |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA30203 |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | KRT14 |
Domain mapping of disease mutations (DMDM) More...DMDMi | 229463044 |
<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi
Molecule processing
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000063653 | 1 – 472 | Keratin, type I cytoskeletal 14Add BLAST | 472 |
Amino acid modifications
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi | 367 | Interchain1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| ||
| <p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei | 435 | PhosphoserineBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi | 1 |
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.18"Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility."
Lin Z., Li S., Feng C., Yang S., Wang H., Ma D., Zhang J., Gou M., Bu D., Zhang T., Kong X., Wang X., Sarig O., Ren Y., Dai L., Liu H., Zhang J., Li F. , Hu Y., Padalon-Brauch G., Vodo D., Zhou F., Chen T., Deng H., Sprecher E., Yang Y., Tan X.
Nat. Genet. 48:1508-1516(2016) [PubMed] [Europe PMC] [Abstract]Cited for: UBIQUITINATION BY THE BCR(KLHL24) COMPLEX, INTERACTION WITH KLHL24.
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - PTMi
Disulfide bond, Phosphoprotein, Ubl conjugationProteomic databases
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | P02533 |
PeptideAtlas More...PeptideAtlasi | P02533 |
PRoteomics IDEntifications database More...PRIDEi | P02533 |
ProteomicsDB human proteome resource More...ProteomicsDBi | 51528 |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | P02533 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | P02533 |
SwissPalm database of S-palmitoylation events More...SwissPalmi | P02533 |
<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni
<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.11"Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle."
Bowden P.E., Hainey S.D., Parker G., Jones D.O., Zimonjic D., Popescu N., Hodgins M.B.
J. Invest. Dermatol. 110:158-164(1998) [PubMed] [Europe PMC] [Abstract]Cited for: TISSUE SPECIFICITY.
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000186847 |
CleanEx database of gene expression profiles More...CleanExi | HS_KRT14 |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | P02533 HS |
Organism-specific databases
Human Protein Atlas More...HPAi | CAB000134 HPA000452 HPA000539 HPA023040 |
<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni
<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei
<p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi
4 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.12"Keratin attenuates tumor necrosis factor-induced cytotoxicity through association with TRADD."
Inada H., Izawa I., Nishizawa M., Fujita E., Kiyono T., Takahashi T., Momoi T., Inagaki M.
J. Cell Biol. 155:415-426(2001) [PubMed] [Europe PMC] [Abstract]Cited for: INTERACTION WITH TRADD. - Ref.13"The nonhelical tail domain of keratin 14 promotes filament bundling and enhances the mechanical properties of keratin intermediate filaments in vitro."
Bousquet O., Ma L., Yamada S., Gu C., Idei T., Takahashi K., Wirtz D., Coulombe P.A.
J. Cell Biol. 155:747-754(2001) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, INTERACTION WITH KERATIN FILAMENTS, SUBCELLULAR LOCATION. - Ref.18"Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility."
Lin Z., Li S., Feng C., Yang S., Wang H., Ma D., Zhang J., Gou M., Bu D., Zhang T., Kong X., Wang X., Sarig O., Ren Y., Dai L., Liu H., Zhang J., Li F. , Hu Y., Padalon-Brauch G., Vodo D., Zhou F., Chen T., Deng H., Sprecher E., Yang Y., Tan X.
Nat. Genet. 48:1508-1516(2016) [PubMed] [Europe PMC] [Abstract]Cited for: UBIQUITINATION BY THE BCR(KLHL24) COMPLEX, INTERACTION WITH KLHL24. - Ref.19"Structural basis for heteromeric assembly and perinuclear organization of keratin filaments."
Lee C.H., Kim M.S., Chung B.M., Leahy D.J., Coulombe P.A.
Nat. Struct. Mol. Biol. 19:707-715(2012) [PubMed] [Europe PMC] [Abstract]Cited for: X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF 295-422 IN COMPLEX WITH KRT5, DISULFIDE BOND, SUBCELLULAR LOCATION.
<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi
| With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| KRT5 | P13647 | 8 | EBI-702178,EBI-702187 | |
| PKP1 | Q13835-2 | 2 | EBI-702178,EBI-9087684 | |
| PRPH | P41219 | 4 | EBI-702178,EBI-752074 |
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 110059, 45 interactors |
Database of interacting proteins More...DIPi | DIP-33874N |
Protein interaction database and analysis system More...IntActi | P02533, 44 interactors |
Molecular INTeraction database More...MINTi | P02533 |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000167586 |
<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei
Secondary structure
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Structure’ section is used to indicate the positions of experimentally determined helical regions within the protein sequence.<p><a href='/help/helix' target='_top'>More...</a></p>Helixi | 333 – 418 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei | 86 |
3D structure databases
| Select the link destinations: Protein Data Bank Europe More...PDBeiProtein Data Bank RCSB More...RCSB PDBiProtein Data Bank Japan More...PDBjiLinks Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
| 3TNU | X-ray | 3.00 | A | 295-422 | [»] | |
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | P02533 | |||||
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | P02533 | |||||
Database of comparative protein structure models More...ModBasei | Search... | |||||
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... | |||||
<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi
Domains and Repeats
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini | 115 – 426 | IF rodPROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Add BLAST | 312 |
Region
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni | 1 – 114 | HeadAdd BLAST | 114 | |
| <p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni | 115 – 150 | Coil 1AAdd BLAST | 36 | |
| <p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni | 151 – 168 | Linker 1Add BLAST | 18 | |
| <p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni | 169 – 260 | Coil 1BAdd BLAST | 92 | |
| <p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni | 261 – 283 | Linker 12Add BLAST | 23 | |
| <p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni | 284 – 422 | Coil 2Add BLAST | 139 | |
| <p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni | 423 – 472 | TailAdd BLAST | 50 | |
| <p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni | 425 – 472 | Interaction with Type I keratins and keratin filamentsAdd BLAST | 48 |
<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi
<p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Domaini
Coiled coilPhylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | ENOG410IFTF Eukaryota ENOG410Y9IV LUCA |
Ensembl GeneTree More...GeneTreei | ENSGT00900000140820 |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG013015 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | P02533 |
KEGG Orthology (KO) More...KOi | K07604 |
Identification of Orthologs from Complete Genome Data More...OMAi | SYASNGL |
Database of Orthologous Groups More...OrthoDBi | EOG091G087I |
Database for complete collections of gene phylogenies More...PhylomeDBi | P02533 |
TreeFam database of animal gene trees More...TreeFami | TF332742 |
Family and domain databases
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR001664 IF IPR018039 IF_conserved IPR039008 IF_rod_dom IPR002957 Keratin_I |
The PANTHER Classification System More...PANTHERi | PTHR23239 PTHR23239, 1 hit |
Pfam protein domain database More...Pfami | View protein in Pfam PF00038 Filament, 1 hit |
Protein Motif fingerprint database; a protein domain database More...PRINTSi | PR01248 TYPE1KERATIN |
Simple Modular Architecture Research Tool; a protein domain database More...SMARTi | View protein in SMART SM01391 Filament, 1 hit |
PROSITE; a protein domain and family database More...PROSITEi | View protein in PROSITE PS00226 IF_ROD_1, 1 hit PS51842 IF_ROD_2, 1 hit |
<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei
<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.
10 20 30 40 50
MTTCSRQFTS SSSMKGSCGI GGGIGGGSSR ISSVLAGGSC RAPSTYGGGL
60 70 80 90 100
SVSSSRFSSG GACGLGGGYG GGFSSSSSSF GSGFGGGYGG GLGAGLGGGF
110 120 130 140 150
GGGFAGGDGL LVGSEKVTMQ NLNDRLASYL DKVRALEEAN ADLEVKIRDW
160 170 180 190 200
YQRQRPAEIK DYSPYFKTIE DLRNKILTAT VDNANVLLQI DNARLAADDF
210 220 230 240 250
RTKYETELNL RMSVEADING LRRVLDELTL ARADLEMQIE SLKEELAYLK
260 270 280 290 300
KNHEEEMNAL RGQVGGDVNV EMDAAPGVDL SRILNEMRDQ YEKMAEKNRK
310 320 330 340 350
DAEEWFFTKT EELNREVATN SELVQSGKSE ISELRRTMQN LEIELQSQLS
360 370 380 390 400
MKASLENSLE ETKGRYCMQL AQIQEMIGSV EEQLAQLRCE MEQQNQEYKI
410 420 430 440 450
LLDVKTRLEQ EIATYRRLLE GEDAHLSSSQ FSSGSQSSRD VTSSSRQIRT
460 470
KVMDVHDGKV VSTHEQVLRT KN
Experimental Info
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 26 | G → A (PubMed:6210150).Curated | 1 | |
| <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 26 | G → A in AAB59562 (PubMed:2580298).Curated | 1 | |
| <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 44 | S → N (PubMed:6210150).Curated | 1 | |
| <p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti | 44 | S → N in AAB59562 (PubMed:2580298).Curated | 1 |
Natural variant
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_055347 | 63 | C → Y3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010437 | 94 | A → T3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010438 | 116 | K → N in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010439 | 119 | M → I in WC-EBS at heterozygosity; more severe phenotype is associated with homozygosity. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010440 | 119 | M → T in DM-EBS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_023719 | 119 | M → V in K-EBS and WC-EBS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010441 | 120 | Q → R in DM-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010442 | 122 | L → F in DM-EBS and K-EBS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_023720 | 123 | N → K in DM-EBS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010443 | 123 | N → S in DM-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_003837 | 125 | R → C in DM-EBS. 7 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_023721 | 125 | R → G in DM-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_003838 | 125 | R → H in DM-EBS. 7 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010444 | 125 | R → S in DM-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031634 | 128 | Missing in DM-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010445 | 129 | Y → D in DM-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_023722 | 130 | L → P in DM-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_033496 | 133 | V → A. Corresponds to variant dbSNP:rs56798071EnsemblClinVar. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_023723 | 133 | V → L in WC-EBS and K-EBS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031635 | 134 | R → P in K-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010446 | 143 | L → P in K-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_003839 | 144 | E → A in EBSB1. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031636 | 148 | R → C in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_027718 | 211 | R → P in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_049784 | 215 | E → K. Corresponds to variant dbSNP:rs11551755Ensembl. | 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010447 | 247 | A → D in K-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_003840 | 270 | V → M in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_003841 | 272 | M → R in K-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_027719 | 272 | M → T in K-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010448 | 273 | D → G in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010449 | 274 | A → D in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_003842 | 375 | Missing in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010450 | 377 | I → N in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_003843 | 384 | L → P in K-EBS. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010451 | 388 | R → C in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031637 | 388 | R → H in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_023724 | 408 | L → M in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_027720 | 411 | Missing in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_023725 | 413 | A → T in K-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031638 | 415 | Y → C in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_003844 | 415 | Y → H in K-EBS. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031639 | 416 | R → P in DM-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_027721 | 417 | R → P in DM-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_071705 | 418 | L → Q Probable disease-associated mutation found in epidermolysis bullosa simplex with variable phenotype. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_003845 | 419 | L → Q in DM-EBS. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 | |
| <p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_010452 | 422 | E → K in WC-EBS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
| 1 |
Sequence databases
| Select the link destinations: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks Updated | J00124 Genomic DNA Translation: AAB59562.1 BT007186 mRNA Translation: AAP35850.1 AC019349 Genomic DNA No translation available. BC002690 mRNA Translation: AAH02690.1 BC019097 mRNA Translation: AAH19097.1 BC042437 mRNA Translation: AAH42437.1 BC094830 mRNA Translation: AAH94830.1 D28807 Genomic DNA Translation: BAA05967.1 AF186085 Genomic DNA Translation: AAF04034.1 AF186086 Genomic DNA Translation: AAF04035.1 AF186087 Genomic DNA Translation: AAF04036.1 AF186088 Genomic DNA Translation: AAF04037.1 AF186089 Genomic DNA Translation: AAF04038.1 AF186090 Genomic DNA Translation: AAF04039.1 |
The Consensus CDS (CCDS) project More...CCDSi | CCDS11400.1 |
Protein sequence database of the Protein Information Resource More...PIRi | A26763 KRHUE |
NCBI Reference Sequences More...RefSeqi | NP_000517.2, NM_000526.4 |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.654380 |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000167586; ENSP00000167586; ENSG00000186847 |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 3861 |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:3861 |
UCSC genome browser More...UCSCi | uc002hxf.3 human |
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Coding sequence diversityi
Polymorphism<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi
| Protein | Similar proteins | Species | Score | Length | |
|---|---|---|---|---|---|
| P02533 | UPI0002C566C8 | 526 | |||
| Keratin 14 | 514 | ||||
| Keratin 14 | 504 | ||||
| keratin, type I cytoskeletal 14 | 488 | ||||
| UPI000939C940 | 486 | ||||
| +81 | |||||
| Protein | Similar proteins | Species | Score | Length | |
|---|---|---|---|---|---|
| P02533 | UPI0002C566C8 | 526 | |||
| Keratin 14 | 514 | ||||
| Keratin 14 | 504 | ||||
| keratin, type I cytoskeletal 14 | 488 | ||||
| UPI000939C940 | 486 | ||||
| +304 | |||||
<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi
<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi
| Human Intermediate Filament Mutation Database |
Sequence databases
| Select the link destinations: EMBL nucleotide sequence database More...EMBLiGenBank nucleotide sequence database More...GenBankiDNA Data Bank of Japan; a nucleotide sequence database More...DDBJiLinks Updated | J00124 Genomic DNA Translation: AAB59562.1 BT007186 mRNA Translation: AAP35850.1 AC019349 Genomic DNA No translation available. BC002690 mRNA Translation: AAH02690.1 BC019097 mRNA Translation: AAH19097.1 BC042437 mRNA Translation: AAH42437.1 BC094830 mRNA Translation: AAH94830.1 D28807 Genomic DNA Translation: BAA05967.1 AF186085 Genomic DNA Translation: AAF04034.1 AF186086 Genomic DNA Translation: AAF04035.1 AF186087 Genomic DNA Translation: AAF04036.1 AF186088 Genomic DNA Translation: AAF04037.1 AF186089 Genomic DNA Translation: AAF04038.1 AF186090 Genomic DNA Translation: AAF04039.1 |
The Consensus CDS (CCDS) project More...CCDSi | CCDS11400.1 |
Protein sequence database of the Protein Information Resource More...PIRi | A26763 KRHUE |
NCBI Reference Sequences More...RefSeqi | NP_000517.2, NM_000526.4 |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.654380 |
3D structure databases
| Select the link destinations: Protein Data Bank Europe More...PDBeiProtein Data Bank RCSB More...RCSB PDBiProtein Data Bank Japan More...PDBjiLinks Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
| 3TNU | X-ray | 3.00 | A | 295-422 | [»] | |
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | P02533 | |||||
SWISS-MODEL Repository - a database of annotated 3D protein structure models More...SMRi | P02533 | |||||
Database of comparative protein structure models More...ModBasei | Search... | |||||
MobiDB: a database of protein disorder and mobility annotations More...MobiDBi | Search... | |||||
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 110059, 45 interactors |
Database of interacting proteins More...DIPi | DIP-33874N |
Protein interaction database and analysis system More...IntActi | P02533, 44 interactors |
Molecular INTeraction database More...MINTi | P02533 |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000167586 |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | P02533 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | P02533 |
SwissPalm database of S-palmitoylation events More...SwissPalmi | P02533 |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | KRT14 |
Domain mapping of disease mutations (DMDM) More...DMDMi | 229463044 |
Proteomic databases
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | P02533 |
PeptideAtlas More...PeptideAtlasi | P02533 |
PRoteomics IDEntifications database More...PRIDEi | P02533 |
ProteomicsDB human proteome resource More...ProteomicsDBi | 51528 |
Protocols and materials databases
The DNASU plasmid repository More...DNASUi | 3861 |
| Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000167586; ENSP00000167586; ENSG00000186847 |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 3861 |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:3861 |
UCSC genome browser More...UCSCi | uc002hxf.3 human |
Organism-specific databases
Comparative Toxicogenomics Database More...CTDi | 3861 |
DisGeNET More...DisGeNETi | 3861 |
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000186847.5 |
GeneCards: human genes, protein and diseases More...GeneCardsi | KRT14 |
GeneReviews a resource of expert-authored, peer-reviewed disease descriptions. More...GeneReviewsi | KRT14 |
Human Gene Nomenclature Database More...HGNCi | HGNC:6416 KRT14 |
Human Protein Atlas More...HPAi | CAB000134 HPA000452 HPA000539 HPA023040 |
MalaCards human disease database More...MalaCardsi | KRT14 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 125595 phenotype 131760 phenotype 131800 phenotype 131900 phenotype 148066 gene 161000 phenotype 601001 phenotype |
neXtProt; the human protein knowledge platform More...neXtProti | NX_P02533 |
Open Targets More...OpenTargetsi | ENSG00000186847 |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 86920 Dermatopathia pigmentosa reticularis 79397 Epidermolysis bullosa simplex with mottled pigmentation 79396 Epidermolysis bullosa simplex, Dowling-Meara type 79399 Generalized epidermolysis bullosa simplex, non-Dowling-Meara type 89838 KRT14-related epidermolysis bullosa simplex 79400 Localized epidermolysis bullosa simplex 69087 Naegeli-Franceschetti-Jadassohn syndrome |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA30203 |
GenAtlas: human gene database More...GenAtlasi | Search... |
Phylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | ENOG410IFTF Eukaryota ENOG410Y9IV LUCA |
Ensembl GeneTree More...GeneTreei | ENSGT00900000140820 |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG013015 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | P02533 |
KEGG Orthology (KO) More...KOi | K07604 |
Identification of Orthologs from Complete Genome Data More...OMAi | SYASNGL |
Database of Orthologous Groups More...OrthoDBi | EOG091G087I |
Database for complete collections of gene phylogenies More...PhylomeDBi | P02533 |
TreeFam database of animal gene trees More...TreeFami | TF332742 |
Enzyme and pathway databases
Reactome - a knowledgebase of biological pathways and processes More...Reactomei | R-HSA-446107 Type I hemidesmosome assembly R-HSA-6805567 Keratinization R-HSA-6809371 Formation of the cornified envelope |
SIGNOR Signaling Network Open Resource More...SIGNORi | P02533 |
Miscellaneous databases
ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data More...ChiTaRSi | KRT14 human |
The Gene Wiki collection of pages on human genes and proteins More...GeneWikii | Keratin_14 |
Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens More...GenomeRNAii | 3861 |
Protein Ontology More...PROi | PR:P02533 |
The Stanford Online Universal Resource for Clones and ESTs More...SOURCEi | Search... |
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000186847 |
CleanEx database of gene expression profiles More...CleanExi | HS_KRT14 |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | P02533 HS |
Family and domain databases
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR001664 IF IPR018039 IF_conserved IPR039008 IF_rod_dom IPR002957 Keratin_I |
The PANTHER Classification System More...PANTHERi | PTHR23239 PTHR23239, 1 hit |
Pfam protein domain database More...Pfami | View protein in Pfam PF00038 Filament, 1 hit |
Protein Motif fingerprint database; a protein domain database More...PRINTSi | PR01248 TYPE1KERATIN |
Simple Modular Architecture Research Tool; a protein domain database More...SMARTi | View protein in SMART SM01391 Filament, 1 hit |
PROSITE; a protein domain and family database More...PROSITEi | View protein in PROSITE PS00226 IF_ROD_1, 1 hit PS51842 IF_ROD_2, 1 hit |
ProtoNet; Automatic hierarchical classification of proteins More...ProtoNeti | Search... |
<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi
| <p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry namei | K1C14_HUMAN | |
| <p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>Accessioni | P02533Primary (citable) accession number: P02533 Secondary accession number(s): Q14715 , Q53XY3, Q9BUE3, Q9UBN2, Q9UBN3, Q9UCY4 | |
| <p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 21, 1986 |
| Last sequence update: | May 5, 2009 | |
| Last modified: | June 20, 2018 | |
| This is version 201 of the entry and version 4 of the sequence. See complete history. | ||
| <p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
| Annotation program | Chordata Protein Annotation Program | |
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | |
<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi
<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Technical termi
3D-structure, Complete proteome, Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families
