SLC4A4 W516* [plasma membrane]

Stable Identifier
R-HSA-5656234
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Electrogenic sodium bicarbonate cotransporter 1, S4A4_HUMAN
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:Q9Y6R1 SLC4A4
Gene Names
SLC4A4, NBC, NBC1, NBCE1
Chain
chain:1-1079
Reference Genes
BioGPS Gene:8671 SLC4A4
COSMIC (genes):SLC4A4 SLC4A4
CTD Gene:8671 SLC4A4
dbSNP Gene:8671 SLC4A4
ENSEMBL:ENSG00000080493 SLC4A4
ENSEMBL_homo_sapiens_GENE:ENSG00000080493.19 SLC4A4
HGNC:11030 SLC4A4
KEGG Gene (Homo sapiens):8671 SLC4A4
Monarch:8671 SLC4A4
NCBI Gene:8671 SLC4A4
OMIM:603345 SLC4A4
UCSC:Q9Y6R1 SLC4A4
Reference Transcript
Other Identifiers
11717820_a_at
11717821_a_at
11717822_a_at
11742188_a_at
11763519_a_at
1554027_PM_a_at
1554027_a_at
16967631
203908_PM_at
203908_at
210738_PM_s_at
210738_s_at
210739_PM_x_at
210739_x_at
211494_PM_s_at
211494_s_at
2730739
2730751
2730752
2730760
2730768
2730769
2730780
2730781
2730782
2730783
2730784
2730790
2730792
2730793
2730794
2730795
2730796
2730799
2730800
2730801
2730802
2730803
2730804
2730805
2730806
2730807
2730808
2730810
2730811
2730813
2730814
2730817
2730818
2730819
2730820
2730821
35285_at
35871_s_at
8095585
8671
87069_at
A_14_P100967
A_14_P103730
A_14_P107050
A_14_P138558
A_23_P22205
A_32_P349145
A_32_P358887
GE54086
GO:0003013
GO:0005215
GO:0005452
GO:0005515
GO:0005576
GO:0005615
GO:0005886
GO:0005975
GO:0006091
GO:0006811
GO:0006814
GO:0006820
GO:0008509
GO:0008510
GO:0009986
GO:0015106
GO:0015291
GO:0015293
GO:0015698
GO:0015701
GO:0016020
GO:0016323
GO:0016328
GO:0022853
GO:0034220
GO:0035725
GO:0036376
GO:0042391
GO:0042802
GO:0043226
GO:0045821
GO:0051453
GO:0055085
GO:0055086
GO:0070062
GO:0098656
GO:0098660
GO:0150104
GO:1901135
HMNXSV003017848
Hs2.5462.2.A1_3p_a_at
Hs2.5462.2.A1_3p_s_at
ILMN_1734897
ILMN_2184556
PH_hs_0000563
TC04000396.hg
g3298567_3p_a_at
g4507024_3p_at
g8886014_3p_a_at
Participates
as a member of
Other forms of this molecule
SLC4A4 S427L [plasma membrane]
SLC4A4 T485S [plasma membrane]
SLC4A4 A799V [plasma membrane]
SLC4A4 S982Nfs*4 [plasma membrane]
SLC4A4 R298S [plasma membrane]
SLC4A4 [plasma membrane]
SLC4A4 Q29* [plasma membrane]
SLC4A4 R510H [plasma membrane]
SLC4A4 L522P [plasma membrane]
Modified Residues
Name
Nonsense mutation at L-tryptophan 516
Coordinate
516
PsiMod
L-tryptophan removal [MOD:01648]
A protein modification that effectively removes or replaces an L-tryptophan.
Disease
Name Identifier Synonyms
renal tubular acidosis DOID:14219
Cross References
RefSeq
Guide to Pharmacology - Targets
908
OpenTargets
GeneCards
HPA
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
HMDB Protein
Interactors (1)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P22748 CA4  1 0.463 2
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