UniProtKB - Q9NSK7 (CS012_HUMAN)
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- BLAST>sp|Q9NSK7|CS012_HUMAN Protein C19orf12 OS=Homo sapiens OX=9606 GN=C19orf12 PE=1 SV=3 MERLKSHKPATMTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPP GLAVGGAVGGLLGAWMTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQLTA LVMGSEALQQQLLAMLVNYVTKELRAEIQYDD
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Protein
Protein C19orf12
Gene
C19orf12
Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:
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>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
- apoptotic process 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
- autophagy 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
- mitochondrial calcium ion homeostasis 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
- response to oxidative stress 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
<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: Protein C19orf12 |
| <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:C19orf12 |
| <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:ENSG00000131943.17 |
Human Gene Nomenclature Database More...HGNCi | HGNC:25443 C19orf12 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 614297 gene |
neXtProt; the human protein knowledge platform More...neXtProti | NX_Q9NSK7 |
<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
Mitochondrion
- Mitochondrion 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
- Ref.6"Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation."
Hartig M.B., Iuso A., Haack T., Kmiec T., Jurkiewicz E., Heim K., Roeber S., Tarabin V., Dusi S., Krajewska-Walasek M., Jozwiak S., Hempel M., Winkelmann J., Elstner M., Oexle K., Klopstock T., Mueller-Felber W., Gasser T. , Trenkwalder C., Tiranti V., Kretzschmar H., Schmitz G., Strom T.M., Meitinger T., Prokisch H.
Am. J. Hum. Genet. 89:543-550(2011) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NBIA4 MET-11; ARG-53; GLU-65 AND ARG-69, VARIANTS GLU-142 AND THR-142, SUBCELLULAR LOCATION, INDUCTION. - Ref.8"A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy."
Horvath R., Holinski-Feder E., Neeve V.C., Pyle A., Griffin H., Ashok D., Foley C., Hudson G., Rautenstrauss B., Nurnberg G., Nurnberg P., Kortler J., Neitzel B., Bassmann I., Rahman T., Keavney B., Loughlin J., Hambleton S. , Schoser B., Lochmuller H., Santibanez-Koref M., Chinnery P.F.
Mov. Disord. 27:789-793(2012) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NBIA4 GLN-121. - Ref.13"Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca(2)(+)."
Venco P., Bonora M., Giorgi C., Papaleo E., Iuso A., Prokisch H., Pinton P., Tiranti V.
Front. Genet. 6:185-185(2015) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS NBIA4 SER-58 AND PRO-96, SUBCELLULAR LOCATION.
- Mitochondrion membrane 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
- Ref.6"Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation."
Hartig M.B., Iuso A., Haack T., Kmiec T., Jurkiewicz E., Heim K., Roeber S., Tarabin V., Dusi S., Krajewska-Walasek M., Jozwiak S., Hempel M., Winkelmann J., Elstner M., Oexle K., Klopstock T., Mueller-Felber W., Gasser T. , Trenkwalder C., Tiranti V., Kretzschmar H., Schmitz G., Strom T.M., Meitinger T., Prokisch H.
Am. J. Hum. Genet. 89:543-550(2011) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NBIA4 MET-11; ARG-53; GLU-65 AND ARG-69, VARIANTS GLU-142 AND THR-142, SUBCELLULAR LOCATION, INDUCTION. - Ref.13"Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca(2)(+)."
Venco P., Bonora M., Giorgi C., Papaleo E., Iuso A., Prokisch H., Pinton P., Tiranti V.
Front. Genet. 6:185-185(2015) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS NBIA4 SER-58 AND PRO-96, SUBCELLULAR LOCATION.
- Mitochondrion 3 Publications
Cytosol
- cytosol 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.13"Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca(2)(+)."
Venco P., Bonora M., Giorgi C., Papaleo E., Iuso A., Prokisch H., Pinton P., Tiranti V.
Front. Genet. 6:185-185(2015) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS NBIA4 SER-58 AND PRO-96, SUBCELLULAR LOCATION.
- cytosol 1 Publication
Endoplasmic reticulum
- Endoplasmic reticulum 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.8"A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy."
Horvath R., Holinski-Feder E., Neeve V.C., Pyle A., Griffin H., Ashok D., Foley C., Hudson G., Rautenstrauss B., Nurnberg G., Nurnberg P., Kortler J., Neitzel B., Bassmann I., Rahman T., Keavney B., Loughlin J., Hambleton S. , Schoser B., Lochmuller H., Santibanez-Koref M., Chinnery P.F.
Mov. Disord. 27:789-793(2012) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NBIA4 GLN-121.
Note: In response to oxidative stress, relocates to the cytosol forming aggregates that partially co-localize with mitochondria.1 Publication- Endoplasmic reticulum 1 Publication
- Ref.13"Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca(2)(+)."
Venco P., Bonora M., Giorgi C., Papaleo E., Iuso A., Prokisch H., Pinton P., Tiranti V.
Front. Genet. 6:185-185(2015) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS NBIA4 SER-58 AND PRO-96, SUBCELLULAR LOCATION.
<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
Cytosol
- cytosol Source: UniProtKB-SubCell
Endoplasmic reticulum
- endoplasmic reticulum 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
Mitochondrion
- mitochondrial membrane 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
- mitochondrion 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
- integral component of membrane Source: UniProtKB-KW
Topology
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei | 51 – 71 | HelicalSequence analysisAdd BLAST | 21 |
<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, Endoplasmic reticulum, Membrane, Mitochondrion<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
Neurodegeneration with brain iron accumulation 4 (NBIA4)11 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.5"A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy."
Schottmann G., Stenzel W., Lutzkendorf S., Schuelke M., Knierim E.
Clin. Genet. 85:290-292(2014) [PubMed] [Europe PMC] [Abstract]Cited for: INVOLVEMENT IN NBIA4. - Ref.6"Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation."
Hartig M.B., Iuso A., Haack T., Kmiec T., Jurkiewicz E., Heim K., Roeber S., Tarabin V., Dusi S., Krajewska-Walasek M., Jozwiak S., Hempel M., Winkelmann J., Elstner M., Oexle K., Klopstock T., Mueller-Felber W., Gasser T. , Trenkwalder C., Tiranti V., Kretzschmar H., Schmitz G., Strom T.M., Meitinger T., Prokisch H.
Am. J. Hum. Genet. 89:543-550(2011) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NBIA4 MET-11; ARG-53; GLU-65 AND ARG-69, VARIANTS GLU-142 AND THR-142, SUBCELLULAR LOCATION, INDUCTION. - Ref.7"C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis."
Deschauer M., Gaul C., Behrmann C., Prokisch H., Zierz S., Haack T.B.
J. Neurol. 259:2434-2439(2012) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NBIA4 MET-11 AND GLY-66 DEL. - Ref.8"A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy."
Horvath R., Holinski-Feder E., Neeve V.C., Pyle A., Griffin H., Ashok D., Foley C., Hudson G., Rautenstrauss B., Nurnberg G., Nurnberg P., Kortler J., Neitzel B., Bassmann I., Rahman T., Keavney B., Loughlin J., Hambleton S. , Schoser B., Lochmuller H., Santibanez-Koref M., Chinnery P.F.
Mov. Disord. 27:789-793(2012) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NBIA4 GLN-121. - Ref.9"C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation."
Panteghini C., Zorzi G., Venco P., Dusi S., Reale C., Brunetti D., Chiapparini L., Zibordi F., Siegel B., Siegel B., Garavaglia B., Simonati A., Bertini E., Nardocci N., Tiranti V.
Semin. Pediatr Neurol. 19:75-81(2012) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NBIA4 SER-58 AND PRO-96. - Ref.10"Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration."
Dogu O., Krebs C.E., Kaleagasi H., Demirtas Z., Oksuz N., Walker R.H., Paisan-Ruiz C.
Clin. Genet. 84:350-355(2013) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NBIA4 MET-11. - Ref.11"New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN."
Hogarth P., Gregory A., Kruer M.C., Sanford L., Wagoner W., Natowicz M.R., Egel R.T., Subramony S.H., Goldman J.G., Berry-Kravis E., Foulds N.C., Hammans S.R., Desguerre I., Rodriguez D., Wilson C., Diedrich A., Green S., Tran H. , Reese L., Woltjer R.L., Hayflick S.J.
Neurology 80:268-275(2013) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NBIA4 PHE-39; PRO-48; ARG-53; LEU-60; GLU-65; VAL-65; ARG-69; LEU-83; SER-98 AND PRO-134, VARIANTS GLU-142; THR-142 AND ARG-149. - Ref.12"Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12."
Landoure G., Zhu P.P., Lourenco C.M., Johnson J.O., Toro C., Bricceno K.V., Rinaldi C., Meilleur K.G., Sangare M., Diallo O., Pierson T.M., Ishiura H., Tsuji S., Hein N., Fink J.K., Stoll M., Nicholson G., Gonzalez M.A. , Speziani F., Durr A., Stevanin G., Biesecker L.G., Accardi J., Landis D.M., Gahl W.A., Traynor B.J., Marques W. Jr., Zuchner S., Blackstone C., Fischbeck K.H., Burnett B.G.
Hum. Mutat. 34:1357-1360(2013) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT SPG43 PRO-63, VARIANTS NBIA4 PRO-63 AND GLY-66 DEL, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS SPG43 PRO-63, CHARACTERIZATION OF VARIANTS NBIA4 PRO-63; GLY-66 DEL AND ARG-69. - Ref.13"Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca(2)(+)."
Venco P., Bonora M., Giorgi C., Papaleo E., Iuso A., Prokisch H., Pinton P., Tiranti V.
Front. Genet. 6:185-185(2015) [PubMed] [Europe PMC] [Abstract]Cited for: CHARACTERIZATION OF VARIANTS NBIA4 SER-58 AND PRO-96, SUBCELLULAR LOCATION. - Ref.14"Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation."
Tschentscher A., Dekomien G., Ross S., Cremer K., Kukuk G.M., Epplen J.T., Hoffjan S.
J. Neurol. Sci. 349:105-109(2015) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NBIA4 MET-11 AND ARG-69. - Ref.15"Behr syndrome with homozygous C19ORF12 mutation."
Kleffner I., Wessling C., Gess B., Korsukewitz C., Allkemper T., Schirmacher A., Young P., Senderek J., Husstedt I.W.
J. Neurol. Sci. 357:115-118(2015) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT NBIA4 LEU-83.
Ref.5
"A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy."
Schottmann G., Stenzel W., Lutzkendorf S., Schuelke M., Knierim E.
Clin. Genet. 85:290-292(2014) [PubMed] [Europe PMC] [Abstract]
Schottmann G., Stenzel W., Lutzkendorf S., Schuelke M., Knierim E.
Clin. Genet. 85:290-292(2014) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN NBIA4.
Ref.6
"Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation."
Hartig M.B., Iuso A., Haack T., Kmiec T., Jurkiewicz E., Heim K., Roeber S., Tarabin V., Dusi S., Krajewska-Walasek M., Jozwiak S., Hempel M., Winkelmann J., Elstner M., Oexle K., Klopstock T., Mueller-Felber W., Gasser T. , Trenkwalder C., Tiranti V., Kretzschmar H., Schmitz G., Strom T.M., Meitinger T., Prokisch H.
Am. J. Hum. Genet. 89:543-550(2011) [PubMed] [Europe PMC] [Abstract]
Hartig M.B., Iuso A., Haack T., Kmiec T., Jurkiewicz E., Heim K., Roeber S., Tarabin V., Dusi S., Krajewska-Walasek M., Jozwiak S., Hempel M., Winkelmann J., Elstner M., Oexle K., Klopstock T., Mueller-Felber W., Gasser T. , Trenkwalder C., Tiranti V., Kretzschmar H., Schmitz G., Strom T.M., Meitinger T., Prokisch H.
Am. J. Hum. Genet. 89:543-550(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NBIA4 MET-11; ARG-53; GLU-65 AND ARG-69, VARIANTS GLU-142 AND THR-142, SUBCELLULAR LOCATION, INDUCTION.
Ref.7
"C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis."
Deschauer M., Gaul C., Behrmann C., Prokisch H., Zierz S., Haack T.B.
J. Neurol. 259:2434-2439(2012) [PubMed] [Europe PMC] [Abstract]
Deschauer M., Gaul C., Behrmann C., Prokisch H., Zierz S., Haack T.B.
J. Neurol. 259:2434-2439(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NBIA4 MET-11 AND GLY-66 DEL.
Ref.8
"A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy."
Horvath R., Holinski-Feder E., Neeve V.C., Pyle A., Griffin H., Ashok D., Foley C., Hudson G., Rautenstrauss B., Nurnberg G., Nurnberg P., Kortler J., Neitzel B., Bassmann I., Rahman T., Keavney B., Loughlin J., Hambleton S. , Schoser B., Lochmuller H., Santibanez-Koref M., Chinnery P.F.
Mov. Disord. 27:789-793(2012) [PubMed] [Europe PMC] [Abstract]
Horvath R., Holinski-Feder E., Neeve V.C., Pyle A., Griffin H., Ashok D., Foley C., Hudson G., Rautenstrauss B., Nurnberg G., Nurnberg P., Kortler J., Neitzel B., Bassmann I., Rahman T., Keavney B., Loughlin J., Hambleton S. , Schoser B., Lochmuller H., Santibanez-Koref M., Chinnery P.F.
Mov. Disord. 27:789-793(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NBIA4 GLN-121.
Ref.9
"C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation."
Panteghini C., Zorzi G., Venco P., Dusi S., Reale C., Brunetti D., Chiapparini L., Zibordi F., Siegel B., Siegel B., Garavaglia B., Simonati A., Bertini E., Nardocci N., Tiranti V.
Semin. Pediatr Neurol. 19:75-81(2012) [PubMed] [Europe PMC] [Abstract]
Panteghini C., Zorzi G., Venco P., Dusi S., Reale C., Brunetti D., Chiapparini L., Zibordi F., Siegel B., Siegel B., Garavaglia B., Simonati A., Bertini E., Nardocci N., Tiranti V.
Semin. Pediatr Neurol. 19:75-81(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NBIA4 SER-58 AND PRO-96.
Ref.10
"Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration."
Dogu O., Krebs C.E., Kaleagasi H., Demirtas Z., Oksuz N., Walker R.H., Paisan-Ruiz C.
Clin. Genet. 84:350-355(2013) [PubMed] [Europe PMC] [Abstract]
Dogu O., Krebs C.E., Kaleagasi H., Demirtas Z., Oksuz N., Walker R.H., Paisan-Ruiz C.
Clin. Genet. 84:350-355(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NBIA4 MET-11.
Ref.11
"New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN."
Hogarth P., Gregory A., Kruer M.C., Sanford L., Wagoner W., Natowicz M.R., Egel R.T., Subramony S.H., Goldman J.G., Berry-Kravis E., Foulds N.C., Hammans S.R., Desguerre I., Rodriguez D., Wilson C., Diedrich A., Green S., Tran H. , Reese L., Woltjer R.L., Hayflick S.J.
Neurology 80:268-275(2013) [PubMed] [Europe PMC] [Abstract]
Hogarth P., Gregory A., Kruer M.C., Sanford L., Wagoner W., Natowicz M.R., Egel R.T., Subramony S.H., Goldman J.G., Berry-Kravis E., Foulds N.C., Hammans S.R., Desguerre I., Rodriguez D., Wilson C., Diedrich A., Green S., Tran H. , Reese L., Woltjer R.L., Hayflick S.J.
Neurology 80:268-275(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NBIA4 PHE-39; PRO-48; ARG-53; LEU-60; GLU-65; VAL-65; ARG-69; LEU-83; SER-98 AND PRO-134, VARIANTS GLU-142; THR-142 AND ARG-149.
Ref.12
"Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12."
Landoure G., Zhu P.P., Lourenco C.M., Johnson J.O., Toro C., Bricceno K.V., Rinaldi C., Meilleur K.G., Sangare M., Diallo O., Pierson T.M., Ishiura H., Tsuji S., Hein N., Fink J.K., Stoll M., Nicholson G., Gonzalez M.A. , Speziani F., Durr A., Stevanin G., Biesecker L.G., Accardi J., Landis D.M., Gahl W.A., Traynor B.J., Marques W. Jr., Zuchner S., Blackstone C., Fischbeck K.H., Burnett B.G.
Hum. Mutat. 34:1357-1360(2013) [PubMed] [Europe PMC] [Abstract]
Landoure G., Zhu P.P., Lourenco C.M., Johnson J.O., Toro C., Bricceno K.V., Rinaldi C., Meilleur K.G., Sangare M., Diallo O., Pierson T.M., Ishiura H., Tsuji S., Hein N., Fink J.K., Stoll M., Nicholson G., Gonzalez M.A. , Speziani F., Durr A., Stevanin G., Biesecker L.G., Accardi J., Landis D.M., Gahl W.A., Traynor B.J., Marques W. Jr., Zuchner S., Blackstone C., Fischbeck K.H., Burnett B.G.
Hum. Mutat. 34:1357-1360(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SPG43 PRO-63, VARIANTS NBIA4 PRO-63 AND GLY-66 DEL, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS SPG43 PRO-63, CHARACTERIZATION OF VARIANTS NBIA4 PRO-63; GLY-66 DEL AND ARG-69.
Ref.13
"Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca(2)(+)."
Venco P., Bonora M., Giorgi C., Papaleo E., Iuso A., Prokisch H., Pinton P., Tiranti V.
Front. Genet. 6:185-185(2015) [PubMed] [Europe PMC] [Abstract]
Venco P., Bonora M., Giorgi C., Papaleo E., Iuso A., Prokisch H., Pinton P., Tiranti V.
Front. Genet. 6:185-185(2015) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS NBIA4 SER-58 AND PRO-96, SUBCELLULAR LOCATION.
Ref.14
"Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation."
Tschentscher A., Dekomien G., Ross S., Cremer K., Kukuk G.M., Epplen J.T., Hoffjan S.
J. Neurol. Sci. 349:105-109(2015) [PubMed] [Europe PMC] [Abstract]
Tschentscher A., Dekomien G., Ross S., Cremer K., Kukuk G.M., Epplen J.T., Hoffjan S.
J. Neurol. Sci. 349:105-109(2015) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NBIA4 MET-11 AND ARG-69.
Ref.15
"Behr syndrome with homozygous C19ORF12 mutation."
Kleffner I., Wessling C., Gess B., Korsukewitz C., Allkemper T., Schirmacher A., Young P., Senderek J., Husstedt I.W.
J. Neurol. Sci. 357:115-118(2015) [PubMed] [Europe PMC] [Abstract]
Kleffner I., Wessling C., Gess B., Korsukewitz C., Allkemper T., Schirmacher A., Young P., Senderek J., Husstedt I.W.
J. Neurol. Sci. 357:115-118(2015) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT NBIA4 LEU-83.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA4 results in speech difficulty, extrapyramidal signs, oromandibular and generalized dystonia, and parkinsonism. Most patients have progressive involvement of the corticospinal tract, with spasticity, hyperreflexia, and extensor plantar responses.
See also OMIM:614298| 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_066617 | 11 | T → M in NBIA4. 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
| 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_069756 | 39 | S → F in NBIA4. 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_069757 | 48 | A → P in NBIA4. 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_066618 | 53 | G → R in NBIA4. 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_076803 | 58 | G → S in NBIA4; predominantly cytosolic distribution with a localization also seen in the mitochondrial matrix; no cytosolic redistribution seen in response to oxidative stress; patient fibroblasts accumulate high levels of mitochondrial calcium and are more prone to oxidative stress-induced apoptosis. 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_069758 | 60 | P → L in NBIA4. 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_066619 | 65 | G → E in NBIA4. 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_069759 | 65 | G → V in NBIA4. 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_070669 | 66 | Missing in NBIA4; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 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_066620 | 69 | G → R in NBIA4; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 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
| 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_069760 | 83 | P → L in NBIA4. 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_076804 | 96 | Q → P in NBIA4; no effect on its subcellular localization; no cytosolic redistribution seen in response to oxidative stress. 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_069761 | 98 | R → S in NBIA4. 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_069762 | 121 | L → Q in NBIA4. 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_069763 | 134 | A → P in NBIA4; unknown pathological significance. 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 |
Spastic paraplegia 43, autosomal recessive (SPG43)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.12"Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12."
Landoure G., Zhu P.P., Lourenco C.M., Johnson J.O., Toro C., Bricceno K.V., Rinaldi C., Meilleur K.G., Sangare M., Diallo O., Pierson T.M., Ishiura H., Tsuji S., Hein N., Fink J.K., Stoll M., Nicholson G., Gonzalez M.A. , Speziani F., Durr A., Stevanin G., Biesecker L.G., Accardi J., Landis D.M., Gahl W.A., Traynor B.J., Marques W. Jr., Zuchner S., Blackstone C., Fischbeck K.H., Burnett B.G.
Hum. Mutat. 34:1357-1360(2013) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT SPG43 PRO-63, VARIANTS NBIA4 PRO-63 AND GLY-66 DEL, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS SPG43 PRO-63, CHARACTERIZATION OF VARIANTS NBIA4 PRO-63; GLY-66 DEL AND ARG-69.
Ref.12
"Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12."
Landoure G., Zhu P.P., Lourenco C.M., Johnson J.O., Toro C., Bricceno K.V., Rinaldi C., Meilleur K.G., Sangare M., Diallo O., Pierson T.M., Ishiura H., Tsuji S., Hein N., Fink J.K., Stoll M., Nicholson G., Gonzalez M.A. , Speziani F., Durr A., Stevanin G., Biesecker L.G., Accardi J., Landis D.M., Gahl W.A., Traynor B.J., Marques W. Jr., Zuchner S., Blackstone C., Fischbeck K.H., Burnett B.G.
Hum. Mutat. 34:1357-1360(2013) [PubMed] [Europe PMC] [Abstract]
Landoure G., Zhu P.P., Lourenco C.M., Johnson J.O., Toro C., Bricceno K.V., Rinaldi C., Meilleur K.G., Sangare M., Diallo O., Pierson T.M., Ishiura H., Tsuji S., Hein N., Fink J.K., Stoll M., Nicholson G., Gonzalez M.A. , Speziani F., Durr A., Stevanin G., Biesecker L.G., Accardi J., Landis D.M., Gahl W.A., Traynor B.J., Marques W. Jr., Zuchner S., Blackstone C., Fischbeck K.H., Burnett B.G.
Hum. Mutat. 34:1357-1360(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SPG43 PRO-63, VARIANTS NBIA4 PRO-63 AND GLY-66 DEL, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS SPG43 PRO-63, CHARACTERIZATION OF VARIANTS NBIA4 PRO-63; GLY-66 DEL AND ARG-69.
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SP43 is characterized by childhood onset of progressive spasticity affecting the lower and upper limbs.
See also OMIM:615043<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, Hereditary spastic paraplegia, NeurodegenerationOrganism-specific databases
DisGeNET More...DisGeNETi | 83636 |
GeneReviews a resource of expert-authored, peer-reviewed disease descriptions. More...GeneReviewsi | C19orf12 |
MalaCards human disease database More...MalaCardsi | C19orf12 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 614298 phenotype 615043 phenotype |
Open Targets More...OpenTargetsi | ENSG00000131943 |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 320370 Autosomal recessive spastic paraplegia type 43 289560 Neurodegeneration with brain iron accumulation due to C19orf12 mutation |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA134981038 |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | C19orf12 |
Domain mapping of disease mutations (DMDM) More...DMDMi | 374095505 |
<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_0000296662 | 1 – 152 | Protein C19orf12Add BLAST | 152 |
Proteomic databases
MaxQB - The MaxQuant DataBase More...MaxQBi | Q9NSK7 |
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | Q9NSK7 |
PeptideAtlas More...PeptideAtlasi | Q9NSK7 |
PRoteomics IDEntifications database More...PRIDEi | Q9NSK7 |
ProteomicsDB human proteome resource More...ProteomicsDBi | 82566 82567 [Q9NSK7-2] 82568 [Q9NSK7-3] 82569 [Q9NSK7-4] |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | Q9NSK7 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | Q9NSK7 |
<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 reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni
Up-regulated during adipocyte differentiation in an in vitro preadipocyte differentiation model.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.6"Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation."
Hartig M.B., Iuso A., Haack T., Kmiec T., Jurkiewicz E., Heim K., Roeber S., Tarabin V., Dusi S., Krajewska-Walasek M., Jozwiak S., Hempel M., Winkelmann J., Elstner M., Oexle K., Klopstock T., Mueller-Felber W., Gasser T. , Trenkwalder C., Tiranti V., Kretzschmar H., Schmitz G., Strom T.M., Meitinger T., Prokisch H.
Am. J. Hum. Genet. 89:543-550(2011) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS NBIA4 MET-11; ARG-53; GLU-65 AND ARG-69, VARIANTS GLU-142 AND THR-142, SUBCELLULAR LOCATION, INDUCTION.
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000131943 |
CleanEx database of gene expression profiles More...CleanExi | HS_C19orf12 |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | Q9NSK7 baseline and differential |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | Q9NSK7 HS |
Organism-specific databases
Human Protein Atlas More...HPAi | HPA046930 |
<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
Protein-protein interaction databases
The Biological General Repository for Interaction Datasets (BioGrid) More...BioGridi | 123700, 2 interactors |
Protein interaction database and analysis system More...IntActi | Q9NSK7, 2 interactors |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000376103 |
<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
3D structure databases
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | Q9NSK7 |
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
<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
Transmembrane, Transmembrane helixPhylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | ENOG410IYJD Eukaryota ENOG410YRIP LUCA |
Ensembl GeneTree More...GeneTreei | ENSGT00390000009077 |
The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms More...HOGENOMi | HOG000007731 |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG054390 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | Q9NSK7 |
Identification of Orthologs from Complete Genome Data More...OMAi | IHPTDVV |
Database of Orthologous Groups More...OrthoDBi | EOG091G13RF |
Database for complete collections of gene phylogenies More...PhylomeDBi | Q9NSK7 |
TreeFam database of animal gene trees More...TreeFami | TF323308 |
Family and domain databases
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR033369 C19orf12 |
The PANTHER Classification System More...PANTHERi | PTHR31493 PTHR31493, 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>Sequences (4)i
<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.
This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basketAdded to basket
Isoform 4 (identifier: Q9NSK7-1) [UniParc]FASTAAdd to basketAdded to basketShow »
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MERLKSHKPA TMTIMVEDIM KLLCSLSGER KMKAAVKHSG KGALVTGAMA
60 70 80 90 100
FVGGLVGGPP GLAVGGAVGG LLGAWMTSGQ FKPVPQILME LPPAEQQRLF
110 120 130 140 150
NEAAAIIRHL EWTDAVQLTA LVMGSEALQQ QLLAMLVNYV TKELRAEIQY
DD
Length:152
Mass (Da):16,286
Last modified:January 25, 2012 - v3
<p>The checksum is a form of redundancy check that is calculated
from the sequence. It is useful for tracking sequence updates.</p>
<p>It should be noted that while, in theory, two different sequences could
have the same checksum value, the likelihood that this would happen
is extremely low.</p>
<p>However UniProtKB may contain entries with identical sequences in case
of multiple genes (paralogs).</p>
<p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64)
using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1.
The algorithm is described in the ISO 3309 standard.
</p>
<p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br />
<strong>Cyclic redundancy and other checksums</strong><br />
<a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p>
Checksum:iF8C1300487F99BD5
Isoform 2 (identifier: Q9NSK7-2) [UniParc]FASTAAdd to basketAdded to basketShow »
The sequence of this isoform differs from the canonical sequence as follows:
1-75: Missing.
10 20 30 40 50
MTSGQFKPVP QILMELPPAE QQRLFNEAAA IIRHLEWTDA VQLTALVMGS
60 70
EALQQQLLAM LVNYVTKELR AEIQYDD
Length:77
Mass (Da):8,756
<p>The checksum is a form of redundancy check that is calculated
from the sequence. It is useful for tracking sequence updates.</p>
<p>It should be noted that while, in theory, two different sequences could
have the same checksum value, the likelihood that this would happen
is extremely low.</p>
<p>However UniProtKB may contain entries with identical sequences in case
of multiple genes (paralogs).</p>
<p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64)
using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1.
The algorithm is described in the ISO 3309 standard.
</p>
<p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br />
<strong>Cyclic redundancy and other checksums</strong><br />
<a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p>
Checksum:iF720F9A34E03590C
Isoform 3 (identifier: Q9NSK7-3) [UniParc]FASTAAdd to basketAdded to basketShow »
The sequence of this isoform differs from the canonical sequence as follows:
1-11: Missing.
109-152: HLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD → PCSSSCWPCW
10 20 30 40 50
MTIMVEDIMK LLCSLSGERK MKAAVKHSGK GALVTGAMAF VGGLVGGPPG
60 70 80 90 100
LAVGGAVGGL LGAWMTSGQF KPVPQILMEL PPAEQQRLFN EAAAIIRPCS
SSCWPCW
Length:107
Mass (Da):11,113
<p>The checksum is a form of redundancy check that is calculated
from the sequence. It is useful for tracking sequence updates.</p>
<p>It should be noted that while, in theory, two different sequences could
have the same checksum value, the likelihood that this would happen
is extremely low.</p>
<p>However UniProtKB may contain entries with identical sequences in case
of multiple genes (paralogs).</p>
<p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64)
using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1.
The algorithm is described in the ISO 3309 standard.
</p>
<p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br />
<strong>Cyclic redundancy and other checksums</strong><br />
<a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p>
Checksum:i6A96E70C52F2EC6F
Isoform 1 (identifier: Q9NSK7-4) [UniParc]FASTAAdd to basketAdded to basketShow »
The sequence of this isoform differs from the canonical sequence as follows:
1-11: Missing.
10 20 30 40 50
MTIMVEDIMK LLCSLSGERK MKAAVKHSGK GALVTGAMAF VGGLVGGPPG
60 70 80 90 100
LAVGGAVGGL LGAWMTSGQF KPVPQILMEL PPAEQQRLFN EAAAIIRHLE
110 120 130 140
WTDAVQLTAL VMGSEALQQQ LLAMLVNYVT KELRAEIQYD D
Length:141
Mass (Da):15,007
<p>The checksum is a form of redundancy check that is calculated
from the sequence. It is useful for tracking sequence updates.</p>
<p>It should be noted that while, in theory, two different sequences could
have the same checksum value, the likelihood that this would happen
is extremely low.</p>
<p>However UniProtKB may contain entries with identical sequences in case
of multiple genes (paralogs).</p>
<p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64)
using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1.
The algorithm is described in the ISO 3309 standard.
</p>
<p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br />
<strong>Cyclic redundancy and other checksums</strong><br />
<a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p>
Checksum:iC6EEA8C17A909E7F
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_066617 | 11 | T → M in NBIA4. 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
| 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_069756 | 39 | S → F in NBIA4. 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_069757 | 48 | A → P in NBIA4. 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_066618 | 53 | G → R in NBIA4. 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_076803 | 58 | G → S in NBIA4; predominantly cytosolic distribution with a localization also seen in the mitochondrial matrix; no cytosolic redistribution seen in response to oxidative stress; patient fibroblasts accumulate high levels of mitochondrial calcium and are more prone to oxidative stress-induced apoptosis. 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_069758 | 60 | P → L in NBIA4. 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_070668 | 63 | A → P in NBIA4 and SPG43; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 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_066619 | 65 | G → E in NBIA4. 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_069759 | 65 | G → V in NBIA4. 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_070669 | 66 | Missing in NBIA4; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 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_066620 | 69 | G → R in NBIA4; impairs subcellular localization to the endoplasmic reticulum or mitochondrion. 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
| 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_069760 | 83 | P → L in NBIA4. 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_076804 | 96 | Q → P in NBIA4; no effect on its subcellular localization; no cytosolic redistribution seen in response to oxidative stress. 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_069761 | 98 | R → S in NBIA4. 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_069762 | 121 | L → Q in NBIA4. 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_069763 | 134 | A → P in NBIA4; unknown pathological significance. 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_066621 | 142 | K → E Found in families with neurodegeneration with brain iron accumulation; uncertain pathological significance. 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_066622 | 142 | K → T2 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_069764 | 149 | Q → R1 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 |
Alternative sequence
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_027227 | 1 – 75 | Missing in isoform 2. 1 Publication <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More...</a></p> Manual assertion based on opinion ini
| 75 | |
| <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_037995 | 1 – 11 | Missing in isoform 1 and isoform 3. 2 Publications <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More...</a></p> Manual assertion based on opinion ini
| 11 | |
| <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_027228 | 109 – 152 | HLEWT…IQYDD → PCSSSCWPCW in isoform 3. 1 Publication <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More...</a></p> Manual assertion based on opinion ini
| 44 |
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 | AK057185 mRNA Translation: BAG51878.1 DA708831 mRNA No translation available. AC010513 Genomic DNA No translation available. BC004957 mRNA Translation: AAH04957.1 BC009946 mRNA Translation: AAH09946.1 BC063518 mRNA Translation: AAH63518.1 BC017211 mRNA Translation: AAH17211.2 AL162066 mRNA Translation: CAB82403.1 |
The Consensus CDS (CCDS) project More...CCDSi | CCDS12418.2 [Q9NSK7-4] CCDS42542.1 [Q9NSK7-1] CCDS59373.1 [Q9NSK7-3] CCDS74325.1 [Q9NSK7-2] |
Protein sequence database of the Protein Information Resource More...PIRi | T47169 |
NCBI Reference Sequences More...RefSeqi | NP_001026896.2, NM_001031726.3 [Q9NSK7-1] NP_001242975.1, NM_001256046.1 [Q9NSK7-3] NP_001242976.1, NM_001256047.1 [Q9NSK7-4] NP_001269858.1, NM_001282929.1 [Q9NSK7-2] NP_001269859.1, NM_001282930.1 [Q9NSK7-2] NP_001269860.1, NM_001282931.1 [Q9NSK7-2] NP_113636.2, NM_031448.4 [Q9NSK7-4] |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.529094 |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000323670; ENSP00000313332; ENSG00000131943 [Q9NSK7-4] ENST00000392276; ENSP00000376102; ENSG00000131943 [Q9NSK7-2] ENST00000392278; ENSP00000376103; ENSG00000131943 [Q9NSK7-1] ENST00000592153; ENSP00000467117; ENSG00000131943 [Q9NSK7-3] ENST00000614091; ENSP00000482097; ENSG00000131943 [Q9NSK7-4] ENST00000623113; ENSP00000485413; ENSG00000131943 [Q9NSK7-2] |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 83636 |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:83636 |
UCSC genome browser More...UCSCi | uc002nsj.4 human [Q9NSK7-1] |
<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
Alternative splicing, 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 | |
|---|---|---|---|---|---|
| Q9NSK7 | Uncharacterized protein | 171 | |||
| Chromosome 19 open reading frame 12 | 158 | ||||
| Chromosome 19 open reading frame 12 | 144 | ||||
| Chromosome 19 open reading frame 12 | 141 | ||||
| Chromosome 19 open reading frame 12 | 141 | ||||
| +36 | |||||
| Q9NSK7-2 | UPI000D0C7964 | 195 | |||
| C19orf12 isoform 2 | 141 | ||||
| Chromosome 19 open reading frame 12 | 141 | ||||
| Uncharacterized protein | 141 | ||||
| Q9NSK7-4 | 141 | ||||
| +6 | |||||
| Q9NSK7-3 | Uncharacterized protein | 110 | |||
| Uncharacterized protein | 110 | ||||
| C19orf12 isoform 5 | 107 | ||||
| Chromosome 19 open reading frame 12 | 107 | ||||
| Chromosome 19 open reading frame 12 | 107 | ||||
| +14 | |||||
| Q9NSK7-4 | UPI000D0C7964 | 195 | |||
| C19orf12 isoform 2 | 141 | ||||
| Chromosome 19 open reading frame 12 | 141 | ||||
| Uncharacterized protein | 141 | ||||
| Protein C19orf12 (Fragment) | 106 | ||||
| +6 | |||||
<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
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 | AK057185 mRNA Translation: BAG51878.1 DA708831 mRNA No translation available. AC010513 Genomic DNA No translation available. BC004957 mRNA Translation: AAH04957.1 BC009946 mRNA Translation: AAH09946.1 BC063518 mRNA Translation: AAH63518.1 BC017211 mRNA Translation: AAH17211.2 AL162066 mRNA Translation: CAB82403.1 |
The Consensus CDS (CCDS) project More...CCDSi | CCDS12418.2 [Q9NSK7-4] CCDS42542.1 [Q9NSK7-1] CCDS59373.1 [Q9NSK7-3] CCDS74325.1 [Q9NSK7-2] |
Protein sequence database of the Protein Information Resource More...PIRi | T47169 |
NCBI Reference Sequences More...RefSeqi | NP_001026896.2, NM_001031726.3 [Q9NSK7-1] NP_001242975.1, NM_001256046.1 [Q9NSK7-3] NP_001242976.1, NM_001256047.1 [Q9NSK7-4] NP_001269858.1, NM_001282929.1 [Q9NSK7-2] NP_001269859.1, NM_001282930.1 [Q9NSK7-2] NP_001269860.1, NM_001282931.1 [Q9NSK7-2] NP_113636.2, NM_031448.4 [Q9NSK7-4] |
UniGene gene-oriented nucleotide sequence clusters More...UniGenei | Hs.529094 |
3D structure databases
Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase More...ProteinModelPortali | Q9NSK7 |
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 | 123700, 2 interactors |
Protein interaction database and analysis system More...IntActi | Q9NSK7, 2 interactors |
STRING: functional protein association networks More...STRINGi | 9606.ENSP00000376103 |
PTM databases
iPTMnet integrated resource for PTMs in systems biology context More...iPTMneti | Q9NSK7 |
Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat. More...PhosphoSitePlusi | Q9NSK7 |
Polymorphism and mutation databases
BioMuta curated single-nucleotide variation and disease association database More...BioMutai | C19orf12 |
Domain mapping of disease mutations (DMDM) More...DMDMi | 374095505 |
Proteomic databases
MaxQB - The MaxQuant DataBase More...MaxQBi | Q9NSK7 |
PaxDb, a database of protein abundance averages across all three domains of life More...PaxDbi | Q9NSK7 |
PeptideAtlas More...PeptideAtlasi | Q9NSK7 |
PRoteomics IDEntifications database More...PRIDEi | Q9NSK7 |
ProteomicsDB human proteome resource More...ProteomicsDBi | 82566 82567 [Q9NSK7-2] 82568 [Q9NSK7-3] 82569 [Q9NSK7-4] |
Protocols and materials databases
| Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembl eukaryotic genome annotation project More...Ensembli | ENST00000323670; ENSP00000313332; ENSG00000131943 [Q9NSK7-4] ENST00000392276; ENSP00000376102; ENSG00000131943 [Q9NSK7-2] ENST00000392278; ENSP00000376103; ENSG00000131943 [Q9NSK7-1] ENST00000592153; ENSP00000467117; ENSG00000131943 [Q9NSK7-3] ENST00000614091; ENSP00000482097; ENSG00000131943 [Q9NSK7-4] ENST00000623113; ENSP00000485413; ENSG00000131943 [Q9NSK7-2] |
Database of genes from NCBI RefSeq genomes More...GeneIDi | 83636 |
KEGG: Kyoto Encyclopedia of Genes and Genomes More...KEGGi | hsa:83636 |
UCSC genome browser More...UCSCi | uc002nsj.4 human [Q9NSK7-1] |
Organism-specific databases
Comparative Toxicogenomics Database More...CTDi | 83636 |
DisGeNET More...DisGeNETi | 83636 |
Eukaryotic Pathogen Database Resources More...EuPathDBi | HostDB:ENSG00000131943.17 |
GeneCards: human genes, protein and diseases More...GeneCardsi | C19orf12 |
GeneReviews a resource of expert-authored, peer-reviewed disease descriptions. More...GeneReviewsi | C19orf12 |
H-Invitational Database, human transcriptome db More...H-InvDBi | HIX0014979 |
Human Gene Nomenclature Database More...HGNCi | HGNC:25443 C19orf12 |
Human Protein Atlas More...HPAi | HPA046930 |
MalaCards human disease database More...MalaCardsi | C19orf12 |
Online Mendelian Inheritance in Man (OMIM) More...MIMi | 614297 gene 614298 phenotype 615043 phenotype |
neXtProt; the human protein knowledge platform More...neXtProti | NX_Q9NSK7 |
Open Targets More...OpenTargetsi | ENSG00000131943 |
Orphanet; a database dedicated to information on rare diseases and orphan drugs More...Orphaneti | 320370 Autosomal recessive spastic paraplegia type 43 289560 Neurodegeneration with brain iron accumulation due to C19orf12 mutation |
The Pharmacogenetics and Pharmacogenomics Knowledge Base More...PharmGKBi | PA134981038 |
GenAtlas: human gene database More...GenAtlasi | Search... |
Phylogenomic databases
evolutionary genealogy of genes: Non-supervised Orthologous Groups More...eggNOGi | ENOG410IYJD Eukaryota ENOG410YRIP LUCA |
Ensembl GeneTree More...GeneTreei | ENSGT00390000009077 |
The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms More...HOGENOMi | HOG000007731 |
The HOVERGEN Database of Homologous Vertebrate Genes More...HOVERGENi | HBG054390 |
InParanoid: Eukaryotic Ortholog Groups More...InParanoidi | Q9NSK7 |
Identification of Orthologs from Complete Genome Data More...OMAi | IHPTDVV |
Database of Orthologous Groups More...OrthoDBi | EOG091G13RF |
Database for complete collections of gene phylogenies More...PhylomeDBi | Q9NSK7 |
TreeFam database of animal gene trees More...TreeFami | TF323308 |
Miscellaneous databases
Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens More...GenomeRNAii | 83636 |
Protein Ontology More...PROi | PR:Q9NSK7 |
The Stanford Online Universal Resource for Clones and ESTs More...SOURCEi | Search... |
Gene expression databases
Bgee dataBase for Gene Expression Evolution More...Bgeei | ENSG00000131943 |
CleanEx database of gene expression profiles More...CleanExi | HS_C19orf12 |
ExpressionAtlas, Differential and Baseline Expression More...ExpressionAtlasi | Q9NSK7 baseline and differential |
Genevisible search portal to normalized and curated expression data from Genevestigator More...Genevisiblei | Q9NSK7 HS |
Family and domain databases
Integrated resource of protein families, domains and functional sites More...InterProi | View protein in InterPro IPR033369 C19orf12 |
The PANTHER Classification System More...PANTHERi | PTHR31493 PTHR31493, 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 | CS012_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 | Q9NSK7Primary (citable) accession number: Q9NSK7 Secondary accession number(s): B3KQ16 , Q0D2Q0, Q6P4C5, Q9BSL7 | |
| <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 24, 2007 |
| Last sequence update: | January 25, 2012 | |
| Last modified: | June 20, 2018 | |
| This is version 101 of the entry and version 3 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
Complete proteome, Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: 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
