Reviewed,
UniProtKB/Swiss-Prot P02533 (K1C14_HUMAN)
Last modified
July 7, 2009.
Version 110.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Keratin, type I cytoskeletal 14 Alternative name(s): Cytokeratin-14 Short name=CK-14 Keratin-14 Short name=K14 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Complete proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 472 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro. Ref.13 |
| Subunit structure | Heterotetramer of two type I and two type II keratins. keratin-14 associates with keratin-5. Interacts with TRADD and with keratin filaments. Associates with other type I keratins. Ref.13 Ref.12 |
| Subcellular location | Cytoplasm. Nucleus. Note: Expressed in both as a filamentous pattern. Ref.13 |
| Tissue specificity | Detected in the basal layer, lowered within the more apically located layers specifically in the stratum spinosum, stratum granulosum but is not detected in stratum corneum. Strongly expressed in the outer root sheath of anagen follicles but not in the germinative matrix, inner root sheath or hair. Found in keratinocytes surrounding the club hair during telogen. Ref.11 |
| Involvement in disease | Defects in KRT14 are a cause of epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]. DM-EBS is a severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement. Ref.7 Ref.8 Ref.18 Ref.21 Ref.23 Ref.25 Ref.27 Ref.28 Ref.29 Ref.30 Ref.31 Ref.32 Ref.34 Ref.35 Ref.36 Ref.38 Ref.39 Defects in KRT14 are a cause of epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]. WC-EBS is a form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin. Defects in KRT14 are a cause of epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]. K-EBS is a form of intraepidermal epidermolysis bullosa characterized by generalized skin blistering. The phenotype is not fundamentally distinct from the Dowling-Meara type, althought it is less severe. Defects in KRT14 are the cause of epidermolysis bullosa simplex autosomal recessive (AREBS) [MIM:601001]. AREBS is an intraepidermal epidermolysis bullosa characterized by localized blistering on the dorsal, lateral and plantar surfaces of the feet. Ref.19 Defects in KRT14 are the cause of Naegeli-Franceschetti-Jadassohn syndrome (NFJS) [MIM:161000]; also known as Naegeli syndrome. NFJS is a rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects. Ref.37 Defects in KRT14 are the cause of dermatopathia pigmentosa reticularis (DPR) [MIM:125595]. DPR is a rare ectodermal dysplasia characterized by lifelong persistant reticulate hyperpigmentation, noncicatricial alopecia, and nail dystrophy. Ref.37 |
| Miscellaneous | There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa). |
| Sequence similarities | Belongs to the intermediate filament family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Intermediate filament Keratin Nucleus |
| Coding sequence diversity | Polymorphism |
| Disease | Disease mutation Ectodermal dysplasia Epidermolysis bullosa Palmoplantar keratoderma |
| Domain | Coiled coil |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | epidermis development Traceable author statement. Source: ProtInc intermediate filament bundle assembly Ref.13Inferred from mutant phenotype. Source: UniProtKB |
| Cellular component | cytoplasm Ref.13 Inferred from direct assay. Source: UniProtKB keratin filamentInferred from direct assay. Source: MGI nucleus Ref.13Inferred from direct assay. Source: UniProtKB |
| Molecular function | protein binding Ref.12 Inferred from physical interaction. Source: UniProtKB structural constituent of cytoskeletonTraceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed By similarity | ||||||
| Chain | 2 – 472 | 471 | Keratin, type I cytoskeletal 14 | PRO_0000063653 | |||||
Regions | |||||||||
| Region | 2 – 114 | 113 | Head | ||||||
| Region | 115 – 422 | 308 | Rod | ||||||
| Region | 115 – 150 | 36 | Coil 1A | ||||||
| Region | 151 – 168 | 18 | Linker 1 | ||||||
| Region | 169 – 260 | 92 | Coil 1B | ||||||
| Region | 261 – 283 | 23 | Linker 12 | ||||||
| Region | 284 – 422 | 139 | Coil 2 | ||||||
| Region | 423 – 472 | 50 | Tail | ||||||
| Region | 425 – 472 | 48 | Interaction with Type I keratins and keratin filaments | ||||||
Sites | |||||||||
| Site | 364 | 1 | Stutter | ||||||
Natural variations | |||||||||
| Natural variant | 63 | 1 | C → Y: dbSNP rs6503640. | VAR_055347 | |||||
| Natural variant | 94 | 1 | A → T: dbSNP rs3826550. Ref.27 Ref.3 Ref.5 | VAR_010437 | |||||
| Natural variant | 116 | 1 | K → N in WC-EBS. Ref.27 | VAR_010438 | |||||
| Natural variant | 119 | 1 | M → I in WC-EBS at heterozygosity; more severe phenotype is associated with homozygosity. | VAR_010439 | |||||
| Natural variant | 119 | 1 | M → T in DM-EBS. Ref.23 Ref.31 | VAR_010440 | |||||
| Natural variant | 119 | 1 | M → V in K-EBS and WC-EBS. | VAR_023719 | |||||
| Natural variant | 120 | 1 | Q → R in DM-EBS. Ref.21 | VAR_010441 | |||||
| Natural variant | 122 | 1 | L → F in DM-EBS and K-EBS. | VAR_010442 | |||||
| Natural variant | 123 | 1 | N → K in DM-EBS. Ref.27 Ref.36 Ref.39 | VAR_023720 | |||||
| Natural variant | 123 | 1 | N → S in DM-EBS. Ref.27 Ref.36 Ref.39 | VAR_010443 | |||||
| Natural variant | 125 | 1 | R → C in DM-EBS. Ref.8 Ref.18 Ref.21 Ref.25 Ref.28 Ref.29 Ref.30 Ref.32 Ref.36 Ref.38 Ref.39 | VAR_003837 | |||||
| Natural variant | 125 | 1 | R → G in DM-EBS. Ref.8 Ref.18 Ref.21 Ref.25 Ref.28 Ref.29 Ref.30 Ref.32 Ref.36 Ref.38 Ref.39 | VAR_023721 | |||||
| Natural variant | 125 | 1 | R → H in DM-EBS. Ref.8 Ref.18 Ref.21 Ref.25 Ref.28 Ref.29 Ref.30 Ref.32 Ref.36 Ref.38 Ref.39 | VAR_003838 | |||||
| Natural variant | 125 | 1 | R → S in DM-EBS. Ref.8 Ref.18 Ref.21 Ref.25 Ref.28 Ref.29 Ref.30 Ref.32 Ref.36 Ref.38 Ref.39 | VAR_010444 | |||||
| Natural variant | 128 | 1 | Missing in DM-EBS. Ref.35 | VAR_031634 | |||||
| Natural variant | 129 | 1 | Y → D in DM-EBS. Ref.7 | VAR_010445 | |||||
| Natural variant | 130 | 1 | L → P in DM-EBS. Ref.34 | VAR_023722 | |||||
| Natural variant | 133 | 1 | V → A: dbSNP rs642601. Ref.36 Ref.39 | VAR_033496 | |||||
| Natural variant | 133 | 1 | V → L in WC-EBS and K-EBS. | VAR_023723 | |||||
| Natural variant | 134 | 1 | R → P in K-EBS. Ref.30 | VAR_031635 | |||||
| Natural variant | 143 | 1 | L → P in K-EBS. Ref.27 | VAR_010446 | |||||
| Natural variant | 144 | 1 | E → A in AREBS. Ref.19 | VAR_003839 | |||||
| Natural variant | 148 | 1 | R → C in WC-EBS. Ref.35 | VAR_031636 | |||||
| Natural variant | 211 | 1 | R → P in WC-EBS. Ref.39 | VAR_027718 | |||||
| Natural variant | 215 | 1 | E → K: dbSNP rs11551755. | VAR_049784 | |||||
| Natural variant | 247 | 1 | A → D in K-EBS. Ref.29 | VAR_010447 | |||||
| Natural variant | 270 | 1 | V → M in WC-EBS. Ref.20 | VAR_003840 | |||||
| Natural variant | 272 | 1 | M → R in K-EBS. Ref.39 Ref.17 | VAR_003841 | |||||
| Natural variant | 272 | 1 | M → T in K-EBS. Ref.39 Ref.17 | VAR_027719 | |||||
| Natural variant | 273 | 1 | D → G in WC-EBS. Ref.24 | VAR_010448 | |||||
| Natural variant | 274 | 1 | A → D in WC-EBS. Ref.21 | VAR_010449 | |||||
| Natural variant | 375 | 1 | Missing in WC-EBS. Ref.16 | VAR_003842 | |||||
| Natural variant | 377 | 1 | I → N in WC-EBS. Ref.21 | VAR_010450 | |||||
| Natural variant | 384 | 1 | L → P in K-EBS. Ref.39 Ref.15 | VAR_003843 | |||||
| Natural variant | 388 | 1 | R → C in WC-EBS. Ref.21 Ref.32 | VAR_010451 | |||||
| Natural variant | 388 | 1 | R → H in WC-EBS. Ref.21 Ref.32 | VAR_031637 | |||||
| Natural variant | 408 | 1 | L → M in WC-EBS. Ref.34 | VAR_023724 | |||||
| Natural variant | 411 | 1 | Missing in WC-EBS. Ref.39 | VAR_027720 | |||||
| Natural variant | 413 | 1 | A → T in K-EBS. Ref.9 | VAR_023725 | |||||
| Natural variant | 415 | 1 | Y → C in WC-EBS. Ref.32 | VAR_031638 | |||||
| Natural variant | 415 | 1 | Y → H in K-EBS. Ref.25 Ref.29 | VAR_003844 | |||||
| Natural variant | 416 | 1 | R → P in DM-EBS. Ref.35 | VAR_031639 | |||||
| Natural variant | 417 | 1 | R → P in DM-EBS. Ref.39 | VAR_027721 | |||||
| Natural variant | 419 | 1 | L → Q in DM-EBS. Ref.25 Ref.29 Ref.34 | VAR_003845 | |||||
| Natural variant | 422 | 1 | E → K in WC-EBS. Ref.29 | VAR_010452 | |||||
Experimental info | |||||||||
| Sequence conflict | 26 | 1 | G → A Ref.1 | ||||||
| Sequence conflict | 26 | 1 | G → A in AAB59562. Ref.2 | ||||||
| Sequence conflict | 44 | 1 | S → N Ref.1 | ||||||
| Sequence conflict | 44 | 1 | S → N in AAB59562. Ref.2 | ||||||
Sequences
| ||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "Remarkable conservation of structure among intermediate filament genes." Marchuk D., McCrohon S., Fuchs E. Cell 39:491-498(1984) [PubMed: 6210150] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [2] | "Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene." Marchuk D., McCrohon S., Fuchs E. Proc. Natl. Acad. Sci. U.S.A. 82:1609-1613(1985) [PubMed: 2580298] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT TYR-63. |
| [3] | "Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS TYR-63 AND THR-94. |
| [4] | "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. Nusbaum C.Nature 440:1045-1049(2006) [PubMed: 16625196] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS TYR-63 AND THR-94. Tissue: Brain, Pancreas and Skin. |
| [6] | "The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins." Hanukoglu I., Fuchs E. Cell 31:243-252(1982) [PubMed: 6186381] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 64-472. Tissue: Epidermis. |
| [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: 8601736] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 117-132, VARIANT DM-EBS ASP-129. |
| [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: 1717157] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 118-126, VARIANTS DM-EBS PHE-122; CYS-125 AND HIS-125. |
| [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: 7526926] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 118-126, VARIANT K-EBS PHE-122. |
| [10] | "A novel mutation of cytokeratin 14 in a Japanese epidermolysis bullosa simplex family." Fujiwara H. Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 352-424, VARIANT K-EBS THR-413. |
| [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: 9457912] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [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: 11684708] [Abstract] Cited for: INTERACTION WITH TRADD. |
| [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: 11724817] [Abstract] Cited for: FUNCTION, INTERACTION WITH KERATIN FILAMENTS, SUBCELLULAR LOCATION. |
| [14] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [15] | "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: 1720261] [Abstract] Cited for: VARIANT K-EBS PRO-384. |
| [16] | "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: 7506606] [Abstract] Cited for: VARIANT WC-EBS GLU-375 DEL. |
| [17] | "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: 7682883] [Abstract] Cited for: VARIANT K-EBS ARG-272. |
| [18] | "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: 7688405] [Abstract] Cited for: VARIANT DM-EBS HIS-125. |
| [19] | "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: 7526933] [Abstract] Cited for: VARIANT AREBS ALA-144. |
| [20] | "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: 7506097] [Abstract] Cited for: VARIANT WC-EBS MET-270. |
| [21] | "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: 7561171] [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. |
| [22] | "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: 9284105] [Abstract] Cited for: VARIANT WC-EBS ILE-119. |
| [23] | "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: 9804355] [Abstract] Cited for: VARIANT DM-EBS THR-119. |
| [24] | "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: 9804357] [Abstract] Cited for: VARIANT WC-EBS GLY-273. |
| [25] | "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: 10583131] [Abstract] Cited for: VARIANT DM-EBS CYS-125. |
| [26] | "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. |
| [27] | "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: 9989794] [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. |
| [28] | "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: 10730767] [Abstract] Cited for: VARIANT DM-EBS HIS-125. |
| [29] | "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: 10733662] [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. |
| [30] | "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: 10820403] [Abstract] Cited for: VARIANTS DM-EBS CYS-125 AND HIS-415, VARIANT K-EBS PRO-134. |
| [31] | "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: 11710919] [Abstract] Cited for: VARIANT DM-EBS THR-119, VARIANT K-EBS VAL-119. |
| [32] | "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: 12707098] [Abstract] Cited for: VARIANTS WC-EBS HIS-388 AND CYS-415, VARIANT DM-EBS HIS-125. |
| [33] | Erratum 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. 139:1084-1084(2003) |
| [34] | "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: 12655565] [Abstract] Cited for: VARIANTS DM-EBS PRO-130 AND GLN-419, VARIANT WC-EBS MET-408. |
| [35] | "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: 12603865] [Abstract] Cited for: VARIANTS DM-EBS SER-128 DEL AND PRO-416, VARIANT WC-EBS CYS-148. |
| [36] | "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: 14987259] [Abstract] Cited for: VARIANTS DM-EBS LYS-123 AND GLY-125, VARIANT WC-EBS LEU-133. |
| [37] | "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: 16960809] [Abstract] Cited for: INVOLVEMENT IN NFJS, INVOLVEMENT IN DPR. |
| [38] | "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: 16882168] [Abstract] Cited for: VARIANT WC-EBS VAL-119, VARIANTS DM-EBS HIS-125 AND CYS-125. |
| [39] | "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: 16786515] [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. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| 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. | |
| IPI | IPI00384444. |
| PIR | KRHUE. A26763. |
| RefSeq | NP_000517.2. |
| UniGene | Hs.654380 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1GK7 based on UniProtKB P08670. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | P02533. 7 interactions. |
PTM databases | |
| PhosphoSite | P02533. |
2-D gel databases | |
| Aarhus/Ghent-2DPAGE | 7305. IEF. |
Proteomic databases | |
| PRIDE | P02533. |
Genome annotation databases | |
| Ensembl | ENSG00000186847. Homo sapiens. [Contig view] |
| GeneID | 3861. |
| KEGG | hsa:3861. |
| UCSC | uc002hxf.1. human. |
Organism-specific databases | |
| GeneCards | GC17M036993. |
| H-InvDB | HIX0013809. |
| HGNC | HGNC:6416. KRT14. |
| HPA | CAB000134. HPA000452. |
| MIM | 125595. phenotype. 131760. phenotype. 131800. phenotype. 131900. phenotype. 148066. gene. 161000. phenotype. 601001. phenotype. |
| Orphanet | 86920. Dermatopathia pigmentosa reticularis. 89838. Epidermolysis bullosa simplex, autosomal recessive. 79396. Epidermolysis bullosa simplex, Dowling-Meara type. 79399. Epidermolysis bullosa simplex, Koebner type. 79400. Epidermolysis bullosa simplex, Weber-Cockayne type. 304. Epidermolysis bullosa, epidermolytic. 69087. Naegeli-Franceschetti-Jadassohn syndrome. |
| PharmGKB | PA30203. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | P02533. |
Gene expression databases | |
| ArrayExpress | P02533. |
| Bgee | P02533. |
| CleanEx | HS_KRT14. |
| GermOnline | ENSG00000186847. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR016044. F. IPR001664. IF. IPR018039. Intermediate_filament_CS. IPR002957. Keratin_I. [Graphical view] |
| PANTHER | PTHR23239. IF. 1 hit. |
| Pfam | PF00038. Filament. 1 hit. [Graphical view] |
| PRINTS | PR01248. TYPE1KERATIN. |
| PROSITE | PS00226. IF. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 15195. |
| SOURCE | Search... |
Entry information
| Entry name | K1C14_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P02533 Secondary accession number(s): Q14715 Q9UCY4 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with


