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SLC4A1 R589C [plasma membrane]
Stable Identifier
R-HSA-5657843
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Band 3 anion transport protein, B3AT_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) (Homo sapiens)
Defective SLC4A1 does not exchange Cl- for HCO3- (in erythrocytes) (Homo sapiens)
SLC4A1 mutants [plasma membrane] (Homo sapiens)
SLC4A1 R589C [plasma membrane] (Homo sapiens)
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
RefSeq:NM_000342.3 SLC4A1
RefSeq:XM_005257593.4 SLC4A1
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
SLC4A1 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC4A1 R589H [plasma membrane]
SLC4A1 G701D [plasma membrane]
SLC4A1 E90K [plasma membrane]
SLC4A1 S613F [plasma membrane]
SLC4A1 V488M [plasma membrane]
SLC4A1 V850del [plasma membrane]
SLC4A1 [plasma membrane]
Modified Residues
Name
L-arginine 589 replaced with L-cysteine
Coordinate
589
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Disease
Name
Identifier
Synonyms
renal tubular acidosis
DOID:14219
Cross References
RefSeq
NP_000333.1
,
XP_005257650.1
Guide to Pharmacology - Targets
904
OpenTargets
ENSG00000004939
HPA
ENSG00000004939-SLC4A1
GeneCards
P02730
Ensembl
ENSP00000262418
,
ENSG00000004939
,
ENST00000262418
PRO
P02730
Pharos - Targets
P02730
Orphanet
15512
PDB
2BTB
,
1HYN
,
7TY6
,
8T6U
,
8CTE
,
1BTQ
,
7TY4
,
7V07
,
2BTA
,
7TW6
,
7V19
,
7UZ3
,
7TW5
,
8CS9
,
1BH7
,
7V0Y
,
7V0U
,
3BTB
,
4YZF
,
8CRT
,
8CSY
,
7TW3
,
8CRR
,
7UZV
,
8CT3
,
7TW2
,
7TYA
,
8CRQ
,
7V0T
,
4KY9
,
1BTS
,
7TW0
,
7UZU
,
8CSV
,
7V0M
,
1BTT
,
7TW1
,
7TVZ
,
1BTR
,
8CSL
,
1BZK
,
7V0K
,
7TY8
,
1BNX
,
7TY7
,
8T6V
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P42771 CDKN2A
20
p16INK4A D84G [cytosol]
(R-HSA-9632461)
p16INK4A E88* [cytosol]
(R-HSA-9632588)
p16INK4A R87P [cytosol]
(R-HSA-9632335)
p16INK4A V126D [cytosol]
(R-HSA-9631055)
p16INK4A W110* [cytosol]
(R-HSA-9632585)
p16INK4A D84H [cytosol]
(R-HSA-9632489)
p16INK4A R80* [cytosol]
(R-HSA-9632586)
p16INK4A P114L [cytosol]
(R-HSA-9630916)
p16INK4A R58* [cytosol]
(R-HSA-9632582)
p16INK4A D84N [cytosol]
(R-HSA-9632483)
p16INK4A M53I [cytosol]
(R-HSA-9630911)
p16INK4A D84Y [cytosol]
(R-HSA-9632478)
p16INK4A G101W [cytosol]
(R-HSA-9631257)
p16INK4A P81L [cytosol]
(R-HSA-9632280)
p16INK4A A20P [cytosol]
(R-HSA-9630805)
p16INK4A D84V [cytosol]
(R-HSA-9632465)
p16INK4A P81T [cytosol]
(R-HSA-9632275)
p16INK4A P81H [cytosol]
(R-HSA-9632293)
p16INK4A D84A [cytosol]
(R-HSA-9632486)
p16INK4A P81R [cytosol]
(R-HSA-9632294)
0.602
5
UniProt:P18031 PTPN1
2
PTPN1 [cytosol]
(R-HSA-210625)
PTPN1 [endosome membrane]
(R-HSA-9815895)
0.499
2
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