Seroatlas · Human Serome Atlas

SLC24A5

Sodium/potassium/calcium exchanger 5

Also known as: JSX, NCKX5_HUMAN, OCA6

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q71RS6
Gene: SLC24A5
Ensembl: ENSG00000188467
Chromosome: 15
Canonical length: 500 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

500 residues, UniProt reviewed canonical sequence.

>Q71RS6|SLC24A5
     1  MQTKGGQTWA RRALLLGILW ATAHLPLSGT SLPQRLPRAT GNSTQCVISP SSEFPEGFFT
    61  RQERRDGGII IYFLIIVYMF MAISIVCDEY FLPSLEIISE SLGLSQDVAG TTFMAAGSSA
   121  PELVTAFLGV FITKGDIGIS TILGSAIYNL LGICAACGLL SNTVSTLSCW PLFRDCAAYT
   181  ISAAAVLGII YDNQVYWYEG ALLLLIYGLY VLVLCFDIKI NQYIIKKCSP CCACLAKAME
   241  RSEQQPLMGW EDEGQPFIRR QSRTDSGIFY EDSGYSQLSI SLHGLSQVSE DPPSVFNMPE
   301  ADLKRIFWVL SLPIITLLFL TTPDCRKKFW KNYFVITFFM SAIWISAFTY ILVWMVTITG
   361  ETLEIPDTVM GLTLLAAGTS IPDTIASVLV ARKGKGDMAM SNIVGSNVFD MLCLGIPWFI
   421  KTAFINGSAP AEVNSRGLTY ITISLNISII FLFLAVHFNG WKLDRKLGIV CLLSYLGLAT
   481  LSVLYELGII GNNKIRGCGG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC24A5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 11
Mean surface accessibility (rSASA): 0.32
Highest tissue expression: 7.8 nTPM

Expression across tissuesHPA

Tissue

skin: 7.8 nTPM
testis: 1.6 nTPM
midbrain: 0.6 nTPM
pituitary gland: 0.4 nTPM
hypothalamus: 0.3 nTPM
retina: 0.3 nTPM

Single-cell type

melanocytes: 199 nCPM
late spermatids: 66 nCPM
early spermatids: 62 nCPM
retinal horizontal cells: 44 nCPM
cardiomyocytes: 42 nCPM
retinal pigment epithelial cells: 38 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

midbrain: 2.1 nTPM
thalamus: 2.1 nTPM
hypothalamus: 1.3 nTPM
amygdala: 1 nTPM
cerebellum: 0.9 nTPM
choroid plexus: 0.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC24A5.

Disease | AllUniProt

Conditions SLC24A5 is implicated in, by any mechanism.

Albinism, oculocutaneous, 6 (OCA6) MIM:113750

Disease | GeneticClinVar

39 pathogenic / likely-pathogenic of 290 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Oculocutaneous albinism type 6
SLC24A5-related disorder
Skin/hair/eye pigmentation, variation in, 4
Oculocutaneous albinism
Uveal melanoma

Disease | ImmuneIEDB

Conditions an epitope on SLC24A5 was assayed in.

skin melanoma T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.16
gnomAD pLI: 0
gnomAD missense Z: 0.32
DepMap mean gene effect: 0.07
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC24A5 as an antibody target. Whether an autoantibody or antibody against SLC24A5 could matter depends on whether native SLC24A5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC24A5 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SLC24A5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...