Homo sapiens Protein: RHAG
Summary
InnateDB Protein IDBP-90205.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RHAG
Protein Name Rh-associated glycoprotein
Synonyms CD241; RH2; Rh50; RH50A; Rh50GP; SLC42A1;
Species Homo sapiens
Ensembl Protein ENSP00000360217
InnateDB Gene IDBG-90203 (RHAG)
Protein Structure
UniProt Annotation
Function Associated with rhesus blood group antigen expression. May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane. {ECO:0000269PubMed:11062476, ECO:0000269PubMed:11861637}.
Subcellular Localization Membrane; Multi-pass membrane protein.
Disease Associations Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]: Form of chronic hemolytic anemia in which the red blood cells have a stomatocytosis and spherocytosis morphology, an increased osmotic fragility, an altered ion transport system, and abnormal membrane phospholipid organization. {ECO:0000269PubMed:10467273, ECO:0000269PubMed:8563755, ECO:0000269PubMed:9454778, ECO:0000269PubMed:9716608}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Erythrocytes. {ECO:0000269PubMed:9473510}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0008519 ammonium transmembrane transporter activity
GO:0030506 ankyrin binding
Biological Process
GO:0006873 cellular ion homeostasis
GO:0015670 carbon dioxide transport
GO:0015696 ammonium transport
GO:0015701 bicarbonate transport
GO:0044281 small molecule metabolic process
GO:0048821 erythrocyte development
GO:0055085 transmembrane transport
GO:0060586 multicellular organismal iron ion homeostasis
GO:0072488 ammonium transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
Protein Structure and Domains
PDB ID
InterPro IPR002229 Blood group Rhesus C/E/D polypeptide
IPR024041 Ammonium transporter AmtB-like domain
PFAM PF00909
PRINTS PR00342
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q02094
PhosphoSite PhosphoSite-
TrEMBL Q9UL98
UniProt Splice Variant
Entrez Gene 6005
UniGene Hs.603931
RefSeq NP_000315
HUGO HGNC:10006
OMIM 180297
CCDS CCDS4927
HPRD 01582
IMGT
EMBL AB036993 AF031548 AF031549 AF031550 AF031551 AF178842 AF178844 AF179686 AF237382 AF237383 AF237384 AF237385 AF237386 AF237387 AK313505 AL121950 AL590244 CH471081 X64594
GenPept AAC04247 AAC04248 AAC04249 AAC04250 AAD56366 AAD56368 AAF23101 AAF78209 BAB00642 BAG36285 CAA45883 CAC10519 CAI13085 EAX04337 EAX04338