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SLC24A1 F538Cfs*23 [plasma membrane]
Stable Identifier
R-HSA-5625836
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Sodium/potassium/calcium exchanger 1, NCKX1_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D) (Homo sapiens)
Defective SLC24A1 does not exchange extracellular 4Na+ for cytosolic Ca2+, K+ (Homo sapiens)
SLC24A1 F538Cfs*23 [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:O60721 SLC24A1
Gene Names
SLC24A1, KIAA0702, NCKX1
Chain
chain:1-1099, signal peptide:1-
Reference Genes
BioGPS Gene:9187 SLC24A1
COSMIC (genes):SLC24A1 SLC24A1
CTD Gene:9187 SLC24A1
dbSNP Gene:9187 SLC24A1
ENSEMBL:ENSG00000074621 SLC24A1
HGNC:10975 SLC24A1
KEGG:hsa:9187 SLC24A1
Monarch:9187 SLC24A1
NCBI Gene:9187 SLC24A1
OMIM:603617 SLC24A1
UCSC:O60721 SLC24A1
Reference Transcript
RefSeq:XM_005254778.3 SLC24A1
RefSeq:NM_004727.2 SLC24A1
RefSeq:XM_011522219.1 SLC24A1
RefSeq:XM_011522221.2 SLC24A1
RefSeq:NM_001301033.1 SLC24A1
RefSeq:NM_001301032.1 SLC24A1
RefSeq:XM_011522220.2 SLC24A1
RefSeq:NM_001301031.1 SLC24A1
Other Identifiers
11725840_at
11755366_a_at
16802120
206081_PM_at
206081_at
210420_PM_at
210420_at
210421_PM_s_at
210421_s_at
211842_PM_s_at
211842_s_at
3598431
3598432
3598433
3598434
3598435
3598436
3598437
3598438
3598439
3598440
3598441
3598442
3598443
3598444
3598448
3598449
3598452
3598453
3598454
3598455
3598456
3598457
3598458
3598459
3598460
3598461
3598462
3598463
3598464
3598465
3598466
3598467
3598468
3598469
3598473
38538_at
38539_at
7984276
9187
A_14_P101980
A_23_P205910
A_23_P205913
A_24_P401921
A_33_P3417670
GE53401
GE85972
GO:0005215
GO:0005262
GO:0005515
GO:0005886
GO:0006811
GO:0006816
GO:0006874
GO:0007601
GO:0008273
GO:0009642
GO:0009986
GO:0015293
GO:0015297
GO:0016020
GO:0019867
GO:0035725
GO:0043025
GO:0050877
GO:0055085
GO:0060291
GO:0060292
GO:0070588
GO:0071805
GO:0098703
HMNXSV003004803
HMNXSV003005371
ILMN_1747395
PH_hs_0010376
PH_hs_0037524
TC15000607.hg
g3327217_3p_a_at
g4759127_3p_at
Other forms of this molecule
SLC24A1 [plasma membrane]
Modified Residues
Name
Replacement of residues 538 to 559 by CHWHLFPLLPRDPQPHLVALIP
Disease
Name
Identifier
Synonyms
congenital stationary night blindness
DOID:0050534
Cross References
Guide to Pharmacology - Targets
1045
ENSEMBL
ENST00000339868
,
ENST00000546330
,
ENSP00000341837
,
ENSP00000381991
,
ENSP00000261892
,
ENST00000399033
,
ENSP00000439190
,
ENST00000261892
OpenTargets
ENSG00000074621
HPA
ENSG00000074621-SLC24A1
PRO
O60721
Pharos - Targets
O60721
GlyGen
O60721
Orphanet
SLC24A1
HMDB Protein
HMDBP03126
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