InnateDB Protein
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IDBP-14939.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SLC45A2
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Protein Name
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solute carrier family 45, member 2
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000296589
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InnateDB Gene
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IDBG-14935 (SLC45A2)
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Protein Structure
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Function |
Melanocyte differentiation antigen. May transport substances required for melanin biosynthesis (By similarity). {ECO:0000250}.
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Subcellular Localization |
Melanosome membrane {ECO:0000269PubMed:17081065}; Multi-pass membrane protein {ECO:0000269PubMed:17081065}.
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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.
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Tissue Specificity |
Expressed in most melanoma cell lines and melanocytes.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
0
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR011701
Major facilitator superfamily
IPR016196
Major facilitator superfamily domain, general substrate transporter
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PFAM |
PF07690
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9UMX9
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PhosphoSite |
PhosphoSite-Q9UMX9
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
51151
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UniGene |
Hs.278962
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RefSeq |
NP_057264
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HUGO |
HGNC:16472
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OMIM |
606202
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CCDS |
CCDS3901
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HPRD |
05865
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IMGT |
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EMBL |
AC139777
AC139783
AF172849
BC003597
BC064405
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GenPept |
AAD51812
AAH03597
AAH64405
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