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SLC24A4 S499C [plasma membrane]
Stable Identifier
R-HSA-5626243
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Sodium/potassium/calcium exchanger 4, NCKX4_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI) (Homo sapiens)
Defective SLC24A4 does not exchange extracellular 4Na+ for cytosolic Ca2+, K+ (Homo sapiens)
SLC24A4 mutants [plasma membrane] (Homo sapiens)
SLC24A4 S499C [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q8NFF2 SLC24A4
Gene Names
SLC24A4, NCKX4
Chain
signal peptide:1-38, chain:39-622
Reference Genes
BioGPS Gene:123041 SLC24A4
COSMIC (genes):SLC24A4 SLC24A4
CTD Gene:123041 SLC24A4
dbSNP Gene:123041 SLC24A4
ENSEMBL:ENSG00000140090 SLC24A4
HGNC:10978 SLC24A4
KEGG:hsa:123041 SLC24A4
Monarch:123041 SLC24A4
NCBI Gene:123041 SLC24A4
OMIM:609840 SLC24A4
UCSC:Q8NFF2 SLC24A4
Reference Transcript
RefSeq:NM_153648.3 SLC24A4
RefSeq:NM_153646.3 SLC24A4
RefSeq:NM_153647.3 SLC24A4
RefSeq:XM_011536442.2 SLC24A4
RefSeq:XM_011536441.2 SLC24A4
Other Identifiers
11735593_a_at
11735594_a_at
123041
1568870_PM_at
1568870_at
1568922_PM_at
1568922_at
16787564
243969_PM_at
243969_at
3548853
3548854
3548855
3548856
3548857
3548858
3548859
3548860
3548861
3548862
3548863
3548864
3548868
3548869
3548883
3548885
3548886
3548888
3548889
3548890
3548891
3548892
3548893
3548894
3548895
3548896
3548897
3548898
3548899
3548900
3548902
3548903
3548904
3548906
3548907
3548912
3548914
3548916
3548917
3548920
3548923
3548924
3548925
3548927
3548928
7976263
86080_at
A_14_P127959
A_23_P503010
A_33_P3318148
GE526582
GE795459
GO:0005215
GO:0005262
GO:0005516
GO:0005737
GO:0005886
GO:0006811
GO:0006813
GO:0006814
GO:0006816
GO:0006874
GO:0007602
GO:0007608
GO:0008273
GO:0008277
GO:0009644
GO:0010628
GO:0015293
GO:0015297
GO:0016020
GO:0016324
GO:0021630
GO:0031982
GO:0035725
GO:0036368
GO:0042756
GO:0043226
GO:0048306
GO:0048856
GO:0050849
GO:0050877
GO:0050911
GO:0055074
GO:0055085
GO:0070166
GO:0070588
GO:0071486
GO:0071805
GO:0086009
GO:0097186
GO:0098703
GO:0120199
GO:1903998
GO:1990034
GO:1990680
GO:1990834
HMNXSV003008725
Hs.177386.0.A1_3p_at
Hs2.385530.1.S1_3p_at
Hs2.385743.1.S1_3p_at
ILMN_1675391
ILMN_1815949
ILMN_2370738
PH_hs_0010544
TC14000570.hg
TC14001815.hg
Participates
as a member of
SLC24A4 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC24A4 A146V [plasma membrane]
SLC24A4 R339* [plasma membrane]
SLC24A4 [plasma membrane]
Modified Residues
Name
L-serine 499 replaced with L-cysteine
Coordinate
499
PsiMod
L-serine removal [MOD:01646]
A protein modification that effectively removes or replaces an L-serine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Disease
Name
Identifier
Synonyms
amelogenesis imperfecta
DOID:2187
Cross References
Guide to Pharmacology - Targets
1048
ENSEMBL
ENST00000532405
,
ENST00000393265
,
ENSP00000502715
,
ENST00000676001
,
ENST00000531433
,
ENSP00000376948
,
ENSP00000433302
,
ENSP00000431840
OpenTargets
ENSG00000140090
HPA
ENSG00000140090-SLC24A4
PRO
Q8NFF2
Pharos - Targets
Q8NFF2
GlyGen
Q8NFF2
Orphanet
SLC24A4
HMDB Protein
HMDBP03054
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