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RHAG A363Lfs*15 [plasma membrane]
Stable Identifier
R-HSA-5623025
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Ammonium transporter Rh type A, RHAG_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) (Homo sapiens)
Defective RHAG does not transport NH4+ from cytosol to extracellular region (rbc) (Homo sapiens)
RHAG mutants [plasma membrane] (Homo sapiens)
RHAG A363Lfs*15 [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q02094 RHAG
Gene Names
RHAG, RH50
Chain
chain:1-409
Reference Genes
BioGPS Gene:6005 RHAG
COSMIC (genes):RHAG RHAG
CTD Gene:6005 RHAG
dbSNP Gene:6005 RHAG
ENSEMBL:ENSG00000112077 RHAG
HGNC:10006 RHAG
KEGG:hsa:6005 RHAG
Monarch:6005 RHAG
NCBI Gene:6005 RHAG
OMIM:180297 RHAG
UCSC:Q02094 RHAG
Reference Transcript
RefSeq:NM_000324.2 RHAG
Other Identifiers
11729757_a_at
11758545_s_at
17019847
206145_PM_at
206145_at
206146_PM_s_at
206146_s_at
211254_PM_x_at
211254_x_at
2956507
2956508
2956509
2956510
2956511
2956512
2956514
2956517
2956518
2956519
2956520
2956521
2956522
2956523
2956524
2956525
2956526
2956527
2956528
2956529
2956531
2956532
2956533
32663_at
6005
8126878
85776_s_at
A_23_P256572
GE631770
GE80905
GO:0005215
GO:0005515
GO:0005886
GO:0006873
GO:0008092
GO:0008519
GO:0015200
GO:0015670
GO:0015701
GO:0016020
GO:0022840
GO:0030506
GO:0035378
GO:0035379
GO:0048821
GO:0048856
GO:0055085
GO:0060586
GO:0072488
GO:0072489
GO:0097272
GO:0098662
GO:0170014
HMNXSV003013668
ILMN_1811410
PH_hs_0024061
TC06001783.hg
X64594_at
g2909820_3p_a_at
g4506522_3p_at
g5853261_3p_a_at
Participates
as a member of
RHAG mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
RHAG [plasma membrane]
RHAG P52Dfs*57 [plasma membrane]
RHAG V270I [plasma membrane]
RHAG S79N [plasma membrane]
RHAG G280R [plasma membrane]
RHAG G380V [plasma membrane]
Modified Residues
Name
Replacement of residues 363 to 376 by LHWVPLSEQQLLEV
Disease
Name
Identifier
Synonyms
Rh deficiency syndrome
DOID:0050641
Cross References
Guide to Pharmacology - Targets
1198
OpenTargets
ENSG00000112077
ENSEMBL
ENSP00000494709
,
ENST00000371175
,
ENST00000646939
,
ENSP00000360217
HPA
ENSG00000112077-RHAG
PRO
Q02094
Pharos - Targets
Q02094
Orphanet
RHAG
GlyGen
Q02094
PDB
7V0S
,
8CS9
,
8CSX
,
8CTE
,
8CRT
,
8CSL
,
7V0K
,
7UZQ
HMDB Protein
HMDBP01947
Interactors (5)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q8N6K0 TEX29
0.556
3
UniProt:Q86WB7-2 UNC93A
0.556
3
UniProt:Q9Y282 ERGI3
0.556
3
UniProt:Q5JX71 F209A
0.556
3
UniProt:Q68CJ9 CREB3L3
10
CREB3L3(1-?) [nucleoplasm]
(R-HSA-6784629)
CREB3L3(1-?) [cytosol]
(R-HSA-6784654)
CREB3L3 [endoplasmic reticulum membrane]
(R-HSA-6784669)
CREB3L3(?-461) [endoplasmic reticulum membrane]
(R-HSA-6784710)
CREB3L3 [Golgi membrane]
(R-HSA-8874144)
CREB3L3(365-461) [Golgi membrane]
(R-HSA-8874130)
CREB3L3(1-364) [Golgi membrane]
(R-HSA-8874158)
CREB3L3(1-323) [cytosol]
(R-HSA-8874214)
CREB3L3(1-323) [nucleoplasm]
(R-HSA-8874217)
CREB3L3(324-364) [Golgi membrane]
(R-HSA-8874183)
0.556
3
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