Entity Details

Primary name SLC24A1
Entity type gene
Source Source Link

Details

PrimaryID9187
RefseqGeneNG_031968
SymbolSLC24A1
Namesolute carrier family 24 member 1
Chromosome15
Location15q22.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-02-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsNCKX1_HUMAN

GO terms

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GOName
GO:0005262 calcium channel activity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0006874 cellular calcium ion homeostasis
GO:0007601 visual perception
GO:0008273 calcium, potassium:sodium antiporter activity
GO:0009642 response to light intensity
GO:0015293 symporter activity
GO:0016020 membrane
GO:0019867 outer membrane
GO:0035725 sodium ion transmembrane transport
GO:0043025 neuronal cell body
GO:0060291 long-term synaptic potentiation
GO:0060292 long-term synaptic depression
GO:0070588 calcium ion transmembrane transport
GO:0071805 potassium ion transmembrane transport
GO:0098703 calcium ion import across plasma membrane

Diseases

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Disease IDSourceNameDescription
613830 OMIMNight blindness, congenital stationary, 1D (CSNB1D)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

8 interactions