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SLC24A5 L454Ffs*33 [trans-Golgi network membrane]
Stable Identifier
R-HSA-5626326
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
trans-Golgi network membrane
Synonyms
Sodium/potassium/calcium exchanger 5, NCKX5_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) (Homo sapiens)
Defective SLC24A5 does not exchange cytosolic 4Na+ for Golgi luminal Ca2+, K+ (Homo sapiens)
SLC24A5 mutants [trans-Golgi network membrane] (Homo sapiens)
SLC24A5 L454Ffs*33 [trans-Golgi network membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q71RS6 SLC24A5
Gene Names
SLC24A5, JSX, NCKX5
Chain
signal peptide:1-29, chain:30-500
Reference Genes
BioGPS Gene:283652 SLC24A5
COSMIC (genes):SLC24A5 SLC24A5
CTD Gene:283652 SLC24A5
dbSNP Gene:283652 SLC24A5
ENSEMBL:ENSG00000188467 SLC24A5
ENSEMBL_homo_sapiens_GENE:ENSG00000188467.11 SLC24A5
HGNC:20611 SLC24A5
KEGG Gene (Homo sapiens):283652 SLC24A5
Monarch:283652 SLC24A5
NCBI Gene:283652 SLC24A5
OMIM:609802 SLC24A5
UCSC:Q71RS6 SLC24A5
Reference Transcript
RefSeq:NM_205850.2 SLC24A5
Other Identifiers
11732581_a_at
16800764
283652
33538_at
3593020
3593021
3593022
3593023
3593032
3593034
3593035
3593037
3593038
3593041
3593045
3593048
3593049
3593050
72087_at
7983553
A_32_P165047
A_33_P3400688
GO:0005215
GO:0005262
GO:0005515
GO:0005794
GO:0005802
GO:0006811
GO:0006813
GO:0006814
GO:0006816
GO:0006874
GO:0008273
GO:0015085
GO:0015293
GO:0015297
GO:0016020
GO:0030154
GO:0030318
GO:0031410
GO:0032588
GO:0034220
GO:0035725
GO:0042438
GO:0042470
GO:0043226
GO:0048022
GO:0050896
GO:0055065
GO:0055085
GO:0070509
GO:0070588
GO:0071805
HMNXSV003012069
ILMN_1786045
TC15000375.hg
Participates
as a member of
SLC24A5 mutants [trans-Golgi network membrane] (Homo sapiens)
Other forms of this molecule
SLC24A5 W591* [trans-Golgi network membrane]
SLC24A5 [trans-Golgi network membrane]
Modified Residues
Name
Replacement of residues 454 to 485 by FSSSLQWLETRQKVGNSLPIIILGACYIISSI
Disease
Name
Identifier
Synonyms
oculocutaneous albinism
DOID:0050632
Cross References
RefSeq
NP_995322.1
Guide to Pharmacology - Targets
1049
OpenTargets
ENSG00000188467
GeneCards
Q71RS6
HPA
ENSG00000188467-SLC24A5
Ensembl
ENST00000341459
,
ENSP00000341550
,
ENSG00000188467
,
ENST00000449382
,
ENSP00000389966
PRO
Q71RS6
Pharos - Targets
Q71RS6
Orphanet
22546
HMDB Protein
HMDBP07835
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q6FHY5 Q6FHY5
0.556
3
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