InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC24A5

Summary

InnateDB Protein

IDBP-10778.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC24A5

Protein Name

solute carrier family 24, member 5

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000341550

InnateDB Gene

IDBG-10776 (SLC24A5)

Protein Structure

UniProt Annotation

Function

Cation exchanger involved in pigmentation, possibly by participating in ion transport in melanosomes. Predominant sodium- Calcium exchanger in melanocytes. Probably transports 1 Ca(2+) and 1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+). {ECO:0000269PubMed:16357253, ECO:0000269PubMed:18166528}.

Subcellular Localization

Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Melanosome. Note=Enriched in late-stage melanosomes.

Disease Associations

Albinism, oculocutaneous, 6 (OCA6) [MIM:113750]: A disorder characterized by a reduction or complete loss of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus. {ECO:0000269PubMed:23364476}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

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
GO:0008273	calcium, potassium:sodium antiporter activity
GO:0015293	symporter activity

Biological Process

GO:0006811	ion transport
GO:0006813	potassium ion transport
GO:0006816	calcium ion transport
GO:0034220	ion transmembrane transport
GO:0035725	sodium ion transmembrane transport
GO:0048022	negative regulation of melanin biosynthetic process
GO:0050896	response to stimulus
GO:0055085	transmembrane transport