RHAG
entrez
6005
canonical
uniprot
Q02094
canonical
ensembl
ENSG00000112077
resolver
ensp
ENSP00000360217
resolver
genesymbol
RHAG
resolver
genesymbol_syn
RH50
resolver
hgnc
HGNC:10006
resolver
uniprot
B2R8T8
resolver
uniprot
O43514
resolver
uniprot
O43515
resolver
uniprot
Q7L8L3
resolver
uniprot
Q96E98
resolver
uniprot
Q9H454
resolver
uniprot_entry
Q96E98_HUMAN
resolver
uniprot_entry
RHAG_HUMAN
resolver
uniprot_sec
B2R8T8
resolver
uniprot_sec
O43514
resolver
uniprot_sec
O43515
resolver
uniprot_sec
Q7L8L3
resolver
uniprot_sec
Q9H454
resolver
amino_acid_sequence
MRFTFPLMAIVLEIAMIVLFGLFVEYETDQTVLEQLNITKPTDMGIFFELYPLFQDVHVMIFVGFGFLMTFLKKYGFSSVGINLLVAALGLQWGTIVQGILQSQGQKFNIGIKNMINADFSAATVLISFGAVLGKTSPTQMLIMTILEIVFFAHNEYLVSEIFKASDIGASMTIHAFGAYFGLAVAGILYRSGLRKGHENEESAYYSDLFAMIGTLFLWMFWPSFNSAIAEPGDKQCRAIVNTYFSLAACVLTAFAFSSLVEHRGKLNMVHIQNATLAGGVAVGTCADMAIHPFGSMIIGSIAGMVSVLGYKFLTPLFTTKLRIHDTCGVHNLHGLPGVVGGLAGIVAVAMGASNTSMAMQAAALGSSIGTAVVGGLMTGLILKLPLWGQPSDQNCYDDSVYWKVPKTR
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:10467273, ECO:0000269|PubMed:8563755, ECO:0000269|PubMed:9454778, ECO:0000269|PubMed:9716608}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Overhydrated hereditary stomatocytosis (OHST) [MIM:185000]: An autosomal dominant disorder of red cell membrane permeability to monovalent cations, characterized by macrocytic hemolytic anemia of fluctuating severity, circulating erythrocytes with slit-like lucencies (stomata) evident on fixed, stained peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell sodium content with reduced potassium content. The disease is marked by splenomegaly or hepatosplenomegaly, cholelithiasis and a strong tendency for iron overload. {ECO:0000269|PubMed:18931342, ECO:0000269|PubMed:21849667, ECO:0000269|PubMed:22012326}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane (PubMed:35835865). Heterotrimer with RHCE (RHAG)2(RHCE), that transports ammonium and its related derivative methylammonium, in both neutral and ionic forms, across the erythrocyte membrane (PubMed:11062476, PubMed:11861637, PubMed:15572441, PubMed:15856280, PubMed:19273840, PubMed:21849667, PubMed:22012326, PubMed:24077989, PubMed:26354748). The transport of NH4(+) is electrogenic and masks the NH3 transport (PubMed:26354748). Also, may act as a CO2 channel (PubMed:17712059, PubMed:19273840, PubMed:24077989). In vitro, leaks monovalent cations (PubMed:18931342, PubMed:21849667). Moreover in erythrocyte, regulates RHD membrane expression (PubMed:12130520) and is associated with rhesus blood group antigen expression (PubMed:12130520, PubMed:19744193). {ECO:0000269|PubMed:11062476, ECO:0000269|PubMed:11861637, ECO:0000269|PubMed:12130520, ECO:0000269|PubMed:15572441, ECO:0000269|PubMed:15856280, ECO:0000269|PubMed:17712059, ECO:0000269|PubMed:18931342, ECO:0000269|PubMed:19273840, ECO:0000269|PubMed:19744193, ECO:0000269|PubMed:21849667, ECO:0000269|PubMed:22012326, ECO:0000269|PubMed:24077989, ECO:0000269|PubMed:26354748, ECO:0000269|PubMed:35835865}.
uniprot
proteins
mass_dalton
44198
uniprot
proteins
post_translational_modification
PTM: Glycosylated. {ECO:0000269|PubMed:18931342, ECO:0000269|PubMed:22012326}.
uniprot
proteins
protein_family
Ammonium transporter (TC 2.A.49) family
uniprot
proteins
protein_family
Rh subfamily
uniprot
proteins
pubmed
10467273
uniprot
proteins
pubmed
11062476
uniprot
proteins
pubmed
11861637
uniprot
proteins
pubmed
12130520
uniprot
proteins
pubmed
1417776
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14966114
uniprot
proteins
pubmed
15572441
uniprot
proteins
pubmed
15856280
uniprot
proteins
pubmed
17712059
uniprot
proteins
pubmed
18931342
uniprot
proteins
pubmed
19273840
uniprot
proteins
pubmed
19744193
uniprot
proteins
pubmed
21849667
uniprot
proteins
pubmed
22012326
uniprot
proteins
pubmed
24077989
uniprot
proteins
pubmed
26354748
uniprot
proteins
pubmed
27247322
uniprot
proteins
pubmed
27535533
uniprot
proteins
pubmed
3146980
uniprot
proteins
pubmed
35835865
uniprot
proteins
pubmed
8563755
uniprot
proteins
pubmed
9442063
uniprot
proteins
pubmed
9454778
uniprot
proteins
pubmed
9473510
uniprot
proteins
pubmed
9716608
uniprot
proteins
sequence_length
409
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:15856280, ECO:0000269|PubMed:18931342, ECO:0000269|PubMed:22012326, ECO:0000269|PubMed:27247322}; Multi-pass membrane protein. Note=Localization at the plasma membrane is regulated by ANK1. {ECO:0000269|PubMed:27247322}.
uniprot
proteins
transmembrane_region
TRANSMEM 3..23; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 52..72; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 80..100; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 114..134; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 143..163; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 168..188; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 209..229; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 240..260; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 269..291; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 296..318; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 333..353; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 363..383; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins