SLC24A1
entrez
9187
canonical
uniprot
O60721
canonical
ensembl
ENSG00000074621
resolver
ensp
ENSP00000261892
resolver
ensp
ENSP00000381991
resolver
ensp
ENSP00000439190
resolver
ensp
ENSP00000439693
resolver
ensp
ENSP00000445163
resolver
ensp
ENSP00000599594
resolver
enst
ENST00000537259
resolver
enst
ENST00000544319
resolver
genesymbol
SLC24A1
resolver
genesymbol_syn
KIAA0702
resolver
genesymbol_syn
NCKX1
resolver
hgnc
HGNC:10975
resolver
uniprot
B4DUG1
resolver
uniprot
B4E1W0
resolver
uniprot
F5H127
resolver
uniprot
F5H483
resolver
uniprot
O43485
resolver
uniprot
O75184
resolver
uniprot
Q17RM9
resolver
uniprot_entry
B4DUG1_HUMAN
resolver
uniprot_entry
B4E1W0_HUMAN
resolver
uniprot_entry
F5H127_HUMAN
resolver
uniprot_entry
F5H483_HUMAN
resolver
uniprot_entry
NCKX1_HUMAN
resolver
uniprot_sec
O43485
resolver
uniprot_sec
O75184
resolver
uniprot_sec
Q17RM9
resolver
amino_acid_sequence
MGKLIRMGPQERWLLRTKRLHWSRLLFLLGMLIIGSTYQHLRRPRGLSSLWAAVSSHQPIKLASRDLSSEEMMMMSSSPSKPSSEMGGKMLVPQASVGSDEATLSMTVENIPSMPKRTAKMIPTTTKNNYSPTAAGTERRKEDTPTSSRTLTYYTSTSSRQIVKKYTPTPRGEMKSYSPTQVREKVKYTPSPRGRRVGTYVPSTFMTMETSHAITPRTTVKDSDITATYKILETNSLKRIMEETTPTTLKGMFDSTPTFLTHEVEANVLTSPRSVMEKNNLFPPRRVESNSSAHPWGLVGKSNPKTPQGTVLLHTPATSEGQVTISTMTGSSPAETKAFTAAWSLRNPSPRTSVSAIKTAPAIVWRLAKKPSTAPSTSTTPTVRAKLTMQVHHCVVVKPTPAMLTTPSPSLTTALLPEELSPSPSVLPPSLPDLHPKGEYPPDLFSVEERRQGWVVLHVFGMMYVFVALAIVCDEYFVPALGVITDKLQISEDVAGATFMAAGGSAPELFTSLIGVFISHSNVGIGTIVGSAVFNILFVIGTCSLFSREILNLTWWPLFRDVSFYILDLIMLILFFLDSLIAWWESLLLLLAYAFYVFTMKWNKHIEVWVKEQLSRRPVAKVMALEDLSKPGDGAIAVDELQDNKKLKLPSLLTRGSSSTSLHNSTIRSTIYQLMLHSLDPLREVRLAKEKEEESLNQGARAQPQAKAESKPEEEEPAKLPAVTVTPAPVPDIKGDQKENPGGQEDVAEAESTGEMPGEEGETAGEGETEEKSGGETQPEGEGETETQGKGEECEDENEAEGKGDNEGEDEGEIHAEDGEMKGNEGETESQELSAENHGEAKNDEKGVEDGGGSDGGDSEEEEEEEEEQEEEEEEEEQEEEEEEEEEEEEKGNEEPLSLDWPETRQKQAIYLFLLPIVFPLWLTVPDVRRQESRKFFVFTFLGSIMWIAMFSYLMVWWAHQVGETIGISEEIMGLTILAAGTSIPDLITSVIVARKGLGDMAVSSSVGSNIFDITVGLPVPWLLFSLINGLQPVPVSSNGLFCAIVLLFLMLLFVISSIASCKWRMNKILGFTMFLLYFVFLIISVMLEDRIISCPVSV
uniprot
proteins
disease_involvement
DISEASE: Night blindness, congenital stationary, 1D (CSNB1D) [MIM:613830]: An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision. CSNB1D is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients have visual acuity within the normal range and no symptoms of myopia and/or nystagmus. {ECO:0000269|PubMed:20850105}. 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(+) in exchange for 4 Na(+) (PubMed:26631410). Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness (PubMed:20850105). Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation (PubMed:20850105). {ECO:0000269|PubMed:20850105, ECO:0000269|PubMed:26631410}.
uniprot
proteins
mass_dalton
121374
uniprot
proteins
post_translational_modification
PTM: The uncleaved signal sequence is required for efficient membrane targeting and proper membrane integration. {ECO:0000269|PubMed:10608890}.
uniprot
proteins
protein_family
Ca(2+):cation antiporter (CaCA) (TC 2.A.19) family
uniprot
proteins
protein_family
SLC24A subfamily
uniprot
proteins
pubmed
10608890
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20850105
uniprot
proteins
pubmed
26631410
uniprot
proteins
pubmed
9478004
uniprot
proteins
pubmed
9734811
uniprot
proteins
pubmed
9856482
uniprot
proteins
sequence_length
1099
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26631410}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 453..473; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 498..518; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 523..543; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 564..584; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 586..606; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 908..928; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 936..956; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 972..992; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1011..1031; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1040..1060; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1069..1089; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins