SLC24A5
entrez
283652
canonical
uniprot
Q71RS6
canonical
ensembl
ENSG00000188467
resolver
ensp
ENSP00000341550
resolver
genesymbol
SLC24A5
resolver
genesymbol_syn
JSX
resolver
genesymbol_syn
NCKX5
resolver
hgnc
HGNC:20611
resolver
uniprot
A5X8Z8
resolver
uniprot
A5X8Z9
resolver
uniprot
Q14CT4
resolver
uniprot
Q6DKH3
resolver
uniprot_entry
NCKX5_HUMAN
resolver
uniprot_sec
A5X8Z8
resolver
uniprot_sec
A5X8Z9
resolver
uniprot_sec
Q14CT4
resolver
uniprot_sec
Q6DKH3
resolver
amino_acid_sequence
MQTKGGQTWARRALLLGILWATAHLPLSGTSLPQRLPRATGNSTQCVISPSSEFPEGFFTRQERRDGGIIIYFLIIVYMFMAISIVCDEYFLPSLEIISESLGLSQDVAGTTFMAAGSSAPELVTAFLGVFITKGDIGISTILGSAIYNLLGICAACGLLSNTVSTLSCWPLFRDCAAYTISAAAVLGIIYDNQVYWYEGALLLLIYGLYVLVLCFDIKINQYIIKKCSPCCACLAKAMERSEQQPLMGWEDEGQPFIRRQSRTDSGIFYEDSGYSQLSISLHGLSQVSEDPPSVFNMPEADLKRIFWVLSLPIITLLFLTTPDCRKKFWKNYFVITFFMSAIWISAFTYILVWMVTITGETLEIPDTVMGLTLLAAGTSIPDTIASVLVARKGKGDMAMSNIVGSNVFDMLCLGIPWFIKTAFINGSAPAEVNSRGLTYITISLNISIIFLFLAVHFNGWKLDRKLGIVCLLSYLGLATLSVLYELGIIGNNKIRGCGG
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:23364476}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+) (PubMed:18166528). Involved in pigmentation, possibly by participating in ion transport in melanosomes (PubMed:16357253, PubMed:18166528). Predominant sodium-calcium exchanger in melanocytes (PubMed:16357253, PubMed:18166528). {ECO:0000269|PubMed:16357253, ECO:0000269|PubMed:18166528}.
uniprot
proteins
mass_dalton
54888
uniprot
proteins
protein_family
Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family
uniprot
proteins
protein_family
SLC24A subfamily
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16357253
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
17081065
uniprot
proteins
pubmed
17999355
uniprot
proteins
pubmed
18166528
uniprot
proteins
pubmed
23364476
uniprot
proteins
sequence_length
500
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:18166528}; Multi-pass membrane protein {ECO:0000255}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Enriched in late-stage melanosomes. {ECO:0000269|PubMed:17081065}.
uniprot
proteins
transmembrane_region
TRANSMEM 67..87; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 112..132; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 137..157; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 170..190; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 196..216; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 303..323; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 334..354; /note="Helical; Name=7"; /evidence="ECO:0000255"; TRANSMEM 369..389; /note="Helical; Name=8"; /evidence="ECO:0000255"; TRANSMEM 400..420; /note="Helical; Name=9"; /evidence="ECO:0000255"; TRANSMEM 438..458; /note="Helical; Name=10"; /evidence="ECO:0000255"; TRANSMEM 469..489; /note="Helical; Name=11"; /evidence="ECO:0000255
uniprot
proteins