Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9187
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 24 member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC24A1
Synonyms (NCBI Gene) Gene synonyms aliases
CSNB1D, HsT17412, NCKX, NCKX1, RODX
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CSNB1D
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q22.31
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs766780281 ATCT>- Pathogenic Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs777989874 AT>- Pathogenic Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1410075831 G>T Pathogenic Genic downstream transcript variant, coding sequence variant, downstream transcript variant, stop gained
rs1555403793 TCT>- Pathogenic Inframe deletion, coding sequence variant, genic upstream transcript variant
rs1555407654 A>C Pathogenic Genic downstream transcript variant, missense variant, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1354757 hsa-miR-15a CLIP-seq
MIRT1354758 hsa-miR-15b CLIP-seq
MIRT1354759 hsa-miR-16 CLIP-seq
MIRT1354760 hsa-miR-195 CLIP-seq
MIRT1354761 hsa-miR-2116 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005262 Function Calcium channel activity IBA 21873635
GO:0005515 Function Protein binding IPI 17474147
GO:0005886 Component Plasma membrane IDA 26631410
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603617 10975 ENSG00000074621
Protein
UniProt ID O60721
Protein name Sodium/potassium/calcium exchanger 1 (Na(+)/K(+)/Ca(2+)-exchange protein 1) (Retinal rod Na-Ca+K exchanger) (Solute carrier family 24 member 1)
Protein 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 d
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01699 Na_Ca_ex 458 602 Sodium/calcium exchanger protein Family
PF01699 Na_Ca_ex 936 1087 Sodium/calcium exchanger protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the retina, particularly in the inner segment, outer and inner nuclear layers, and ganglion cell layer. {ECO:0000269|PubMed:20850105}.
Sequence
MGKLIRMGPQERWLLRTKRLHWSRLLFLLGMLIIGSTYQHLRRPRGLSSLWAAVSSHQPI
KLASRDLSSEEMMMMSSSPSKPSSEMGGKMLVPQASVGSDEATLSMTVENIPSMPKRTAK
MIPTTTKNNYSPTAAGTERRKEDTPTSSRTLTYYTSTSSRQIVKKYTPTPRGEMKSYSPT
QVREKVKYTPSPRGRRVGTYVPSTFMTMETSHAITPRTTVKDSDITATYKILETNSLKRI
MEETTPTTLKGMFDSTPTFLTHEVEANVLTSPRSVMEKNNLFPPRRVESNSSAHPWGLVG
KSNPKTPQGTVLLHTPATSEGQVTISTMTGSSPAETKAFTAAWSLRNPSPRTSVSAIKTA
PAIVWRLAKKPSTAPSTSTTPTVRAKLTMQVHHCVVVKPTPAMLTTPSPSLTTALLPEEL
SPSPSVLPPSLPDLHPKGEYPPDLFSVEERRQGWVVLHVFGMMYVFVALAIVCDEYFVPA
LGVITDKLQISEDVAGATFMAAGGSAPELFTSLIGVFISHSNVGIGTIVGSAVFNILFVI
GTCSLFSREILNLTWWPLFRDVSFYILDLIMLILFFLDSLIAWWESLLLLLAYAFYVFTM
KW
NKHIEVWVKEQLSRRPVAKVMALEDLSKPGDGAIAVDELQDNKKLKLPSLLTRGSSST
SLHNSTIRSTIYQLMLHSLDPLREVRLAKEKEEESLNQGARAQPQAKAESKPEEEEPAKL
PAVTVTPAPVPDIKGDQKENPGGQEDVAEAESTGEMPGEEGETAGEGETEEKSGGETQPE
GEGETETQGKGEECEDENEAEGKGDNEGEDEGEIHAEDGEMKGNEGETESQELSAENHGE
AKNDEKGVEDGGGSDGGDSEEEEEEEEEQEEEEEEEEQEEEEEEEEEEEEKGNEEPLSLD
WPETRQKQAIYLFLLPIVFPLWLTVPDVRRQESRKFFVFTFLGSIMWIAMFSYLMVWWAH
QVGETIGISEEIMGLTILAAGTSIPDLITSVIVARKGLGDMAVSSSVGSNIFDITVGLPV
PWLLFSLINGLQPVPVSSNGLFCAIVLLFLMLLFVISSIASCKWRMNKILGFTMFLLYFV
FLIISVM
LEDRIISCPVSV
Sequence length 1099
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Phototransduction   Sodium/Calcium exchangers
Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Congenital stationary night blindness Cone-rod synaptic disorder, congenital nonprogressive, Congenital stationary night blindness rs786205249, rs80338903, rs62638214, rs62638624, rs62638202, rs62638197, rs766862238, rs267607140, rs267607141, rs62638191, rs62638193, rs62637021, rs62637027, rs104894910, rs104894911
View all (100 more)
Myopia Severe myopia rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805
View all (6 more)
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Retinitis pigmentosa Retinitis Pigmentosa rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114
View all (1830 more)
Unknown
Disease term Disease name Evidence References Source
Congenital stationary night blindness, x-linked X-Linked Csnb ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Night blindness congenital stationary Associate 35486108
Pigmentation Disorders Associate 27129268
Retinitis Pigmentosa Associate 27624628, 35486108
Seizures Associate 27129268