Version 5.4
Homo sapiens Protein: C10orf11
Summary
InnateDB Protein IDBP-79589.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol C10orf11
Protein Name chromosome 10 open reading frame 11
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000361577
InnateDB Gene IDBG-79585 (C10orf11)
Protein Structure
UniProt Annotation
Function Required for melanocyte differentiation. {ECO:0000269PubMed:23395477}.
Subcellular Localization
Disease Associations Albinism, oculocutaneous, 7 (OCA7) [MIM:615179]: A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus. {ECO:0000269PubMed:23395477}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity In the embryo, expressed in melanoblasts. In the fetus, expressed in melanocytes. Not detected in retinal pigment epithelial cells. {ECO:0000269PubMed:23395477}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0030318 melanocyte differentiation
Cellular Component
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9H2I8
PhosphoSite PhosphoSite-Q9H2I8
TrEMBL
UniProt Splice Variant
Entrez Gene 83938
UniGene Hs.698311
RefSeq NP_114413
HUGO HGNC:23405
OMIM 614537
CCDS CCDS7351
HPRD 12560
IMGT
EMBL AC012047 AC013286 AC024603 AF267860 AL731568 CH471083
GenPept AAG44729 CAH73047 EAW54585

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca