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RHAG P52Dfs*57
Stable Identifier
R-HSA-5623046
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Ammonium transporter Rh type A, RHAG_HUMAN
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 P52Dfs*57 [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 Gene (Homo sapiens):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
0002680538
11729757_a_at
11758545_s_at
17019847
206145_at
206146_s_at
211254_x_at
2956507
2956508
2956511
2956512
2956514
2956517
2956520
2956523
2956524
2956527
2956528
2956529
2956531
32663_at
55331
6005
8126878
85776_s_at
A_23_P256572
CCDS4927
ENSG00000112077
ENSP00000360217
ENST00000371175
EntrezGene:6005
g2909820_3p_a_at
g4506522_3p_at
g5853261_3p_a_at
GE80905
GO:0005886
GO:0005887
GO:0006810
GO:0006873
GO:0008519
GO:0015670
GO:0015672
GO:0015695
GO:0015696
GO:0015701
GO:0016020
GO:0016021
GO:0022840
GO:0030506
GO:0035378
GO:0035379
GO:0048821
GO:0060586
GO:0072488
HGNC:10006
HPA055331
Hs.120950
ILMN_1811410
LRG_822
LRG_822t1
MIM:180297
MIM:185000
MIM:268150
NM_000324
NP_000315
PF00909
PH_hs_0024061
PR00342
RHAG
RHAG-202
TC06001783.hg
uc003ozk.5
UPI000006D18F
X64594_at
Participant Of
hasMember
RHAG mutants [plasma membrane]
Other forms of this molecule
RHAG G380V [plasma membrane]
RHAG G280R [plasma membrane]
RHAG S79N [plasma membrane]
RHAG V270I [plasma membrane]
RHAG A363Lfs*15 [plasma membrane]
RHAG [plasma membrane]
Modified Residues
Name
Replacement of residues 52 to 107 by DVPRCTCYDICWVWLPHDLPEEIWLQQCGYQPTRCCFGPPVGHYCTGNPAKPGTEI
Disease
Name
Identifier
Synonyms
Rh deficiency syndrome
0050641
Cross References
RefSeq
NP_000315.2
GeneCards
Q02094
PRO
Q02094
Orphanet
15209
HMDB Protein
HMDBP01947
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q68CJ9 CREB3L3
10
CREB3L3(1-?) [cytosol]
(R-HSA-6784654)
CREB3L3(1-?) [nucleoplasm]
(R-HSA-6784629)
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)
0.488
2
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