SLC4A1 R589H [plasma membrane]

Stable Identifier
R-HSA-5657833
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Band 3 anion transport protein, B3AT_HUMAN
Icon
SLC4A1 R589H [plasma membrane] icon
SLC4A1 R589H [plasma membrane] icon
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:P02730 SLC4A1
Gene Names
SLC4A1, AE1, DI, EPB3
Chain
chain:1-911
Reference Genes
BioGPS Gene:6521 SLC4A1
COSMIC (genes):SLC4A1 SLC4A1
CTD Gene:6521 SLC4A1
dbSNP Gene:6521 SLC4A1
ENSEMBL:ENSG00000004939 SLC4A1
ENSEMBL_homo_sapiens_GENE:ENSG00000004939.16 SLC4A1
HGNC:11027 SLC4A1
KEGG Gene (Homo sapiens):6521 SLC4A1
Monarch:6521 SLC4A1
NCBI Gene:6521 SLC4A1
UCSC:P02730 SLC4A1
Reference Transcript
Other Identifiers
11726489_at
11726490_a_at
11726491_at
11758430_s_at
1552713_PM_a_at
1552713_a_at
16845623
205592_PM_at
205592_at
33336_at
3759020
3759021
3759022
3759023
3759024
3759025
3759026
3759027
3759029
3759032
3759034
3759036
3759037
3759039
3759040
3759042
3759043
3759044
3759045
3759046
3759048
3759049
3759050
3759051
3759053
3759054
6521
8015991
A_23_P89380
A_24_P385190
A_33_P3400217
GE62780
GO:0002376
GO:0003014
GO:0005215
GO:0005452
GO:0005515
GO:0005576
GO:0005615
GO:0005856
GO:0005886
GO:0005975
GO:0006091
GO:0006811
GO:0006820
GO:0006821
GO:0006873
GO:0007596
GO:0008092
GO:0008509
GO:0009898
GO:0015106
GO:0015108
GO:0015291
GO:0015297
GO:0015701
GO:0016020
GO:0016323
GO:0017121
GO:0022853
GO:0030018
GO:0030154
GO:0030492
GO:0030506
GO:0030863
GO:0035811
GO:0042060
GO:0042803
GO:0043226
GO:0043495
GO:0045852
GO:0048821
GO:0048856
GO:0051453
GO:0055085
GO:0055086
GO:0060090
GO:0061024
GO:0070062
GO:0072562
GO:0072659
GO:0098660
GO:0140900
GO:0170014
GO:1901135
GO:1902476
GO:1904539
HMNXSV003000115
Hs.185923.0.S2_3p_at
Hs2.185923.1.S1_3p_s_at
ILMN_1772809
M27819_at
PH_hs_0025935
TC17001577.hg
X77737_at
Participates
as a member of
Other forms of this molecule
SLC4A1 G701D [plasma membrane]
SLC4A1 E90K [plasma membrane]
SLC4A1 S613F [plasma membrane]
SLC4A1 R589C [plasma membrane]
SLC4A1 V488M [plasma membrane]
SLC4A1 V850del [plasma membrane]
SLC4A1 [plasma membrane]
Modified Residues
Name
L-arginine 589 replaced with L-histidine
Coordinate
589
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-histidine residue [MOD:00018]
A protein modification that effectively converts a source amino acid residue to an L-histidine.
Disease
Name Identifier Synonyms
renal tubular acidosis DOID:14219
Cross References
RefSeq
Guide to Pharmacology - Targets
904
OpenTargets
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
Interactors (2)
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