Version 5.4
Homo sapiens Protein: SLC45A2
Summary
InnateDB Protein IDBP-14939.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC45A2
Protein Name solute carrier family 45, member 2
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000296589
InnateDB Gene IDBG-14935 (SLC45A2)
Protein Structure
UniProt Annotation
Function Melanocyte differentiation antigen. May transport substances required for melanin biosynthesis (By similarity). {ECO:0000250}.
Subcellular Localization Melanosome membrane {ECO:0000269PubMed:17081065}; Multi-pass membrane protein {ECO:0000269PubMed:17081065}.
Disease Associations Albinism, oculocutaneous, 4 (OCA4) [MIM:606574]: 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:11574907, ECO:0000269PubMed:14722913, ECO:0000269PubMed:14961451, ECO:0000269PubMed:15656822, ECO:0000269PubMed:17768386}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in most melanoma cell lines and melanocytes.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 0
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0007601 visual perception
GO:0042438 melanin biosynthetic process
GO:0048066 developmental pigmentation
GO:0050896 response to stimulus
GO:0055085 transmembrane transport
Cellular Component
GO:0016021 integral component of membrane
GO:0033162 melanosome membrane
Protein Structure and Domains
PDB ID
InterPro IPR011701 Major facilitator superfamily
IPR016196 Major facilitator superfamily domain, general substrate transporter
PFAM PF07690
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9UMX9
PhosphoSite PhosphoSite-Q9UMX9
TrEMBL
UniProt Splice Variant
Entrez Gene 51151
UniGene Hs.278962
RefSeq NP_057264
HUGO HGNC:16472
OMIM 606202
CCDS CCDS3901
HPRD 05865
IMGT
EMBL AC139777 AC139783 AF172849 BC003597 BC064405
GenPept AAD51812 AAH03597 AAH64405

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