RBCC Red Blood Cell Collection

RHAG_HUMAN

Source: hRBCD ; ID: IPI00024094
PM19886704
PM23856902
BGMUT ; ID: rhag
BSc_CH
Marked as 'Integral membrane protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)
Gene names: RHAG , RH50
Protein names and data: RHAG_HUMAN , Ammonium transporter Rh type A , Erythrocyte membrane glycoprotein Rh50; Erythrocyte plasma membrane 50 kDa glycoprotein; Rh50A; Rhesus blood group family type A glycoprotein; Rh family type A glycoprotein; Rh type A glycoprotein; Rhesus blood group-associated ammonia channel; Rhesus blood group-associated glycoprotein; CD241 Lenght: 409 a.a.
Mass: 44198 Da
fasta formatted sequence
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.
Disease: ( OMIM: 180297 268150 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Membrane; Multi-pass membrane protein.
Tissue specificity: Erythrocytes.

Genetic variants

79 - 79 S -> N (in RHN). VAR_006921
242 - 242 N -> D (in dbSNP:rs1058063). VAR_047999 1058063
270 - 270 V -> I (in RHN; dbSNP:rs16879498). VAR_015855 16879498
279 - 279 G -> E (in RHN; dbSNP:rs28933991). VAR_015856 28933991
280 - 280 G -> R (in RHN). VAR_015857
380 - 380 G -> V (in RHN). VAR_015858

Database cross-references

UniProt: Q02094
Ensembl: ENST00000229810
Ensembl: ENST00000371175
MIM: 180297
MIM: 268150
neXtProt: NX_Q02094
Antibodypedia: Q02094 (may not find the protein thus also not any antibody)
Local full text data: click here

Users' comments

Login to add a comment.

© Hegelab and Biomembrane 2013; Powered by TurboGears 2