Source: hRBCD ; ID: IPI00022361
BGMUT ; ID: diego
Marked as 'Integral membrane protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)

Gene names: SLC4A1 , AE1, DI, EPB3
Protein names and data: B3AT_HUMAN , Band 3 anion transport protein , Anion exchange protein 1; AE 1; Anion exchanger 1; Solute carrier family 4 member 1; CD233 Lenght: 911 a.a.
Mass: 101792 Da
fasta formatted sequence

Function: Band 3 is the major integral glycoprotein of the erythrocyte membrane. Band 3 has two functional domains. Its integral domain mediates a 1:1 exchange of inorganic anions across the membrane, whereas its cytoplasmic domain provides binding sites for cytoskeletal proteins, glycolytic enzymes, and hemoglobin.
Cellular location: Membrane; Multi-pass membrane protein.
Tissue specificity: Erythrocytes.

Genetic variants

SLC4A1 is responsible for the Diego blood group system. The molecular basis of the Di(a)=Di1/Di(b)/Di2 blood group antigens is a single variation in position 854; Leu-854 corresponds to Di(a) and Pro-854 to Di(b). The molecular basis of the Wr(a)=Di3/Wr(b)/Di4 blood group antigens is a single variation in position 658; Lys-658 corresponds to Wr(a) and Glu-658 to Wr(b). The blood group antigens Wd(a)=Di5 (Waldner-type) has Met- 557; Rb(a)=Di6 has Leu-548 and WARR=Di7 has Ile-552. SLC4A1 is responsible for the Swann blood group system (SW) [MIM:601550]. Sw(a+) has a Gln or a Trp at position 646 and Sw(a-) has an Arg. SLC4A1 is responsible for the Froese blood group system (FR) [MIM:601551]. FR(a+) has a Lys at position 480 and FR(a-) has a Glu. Genetic variations in SLC4A1 are involved in resistance to malaria [MIM:611162].

Database cross-references

UniProt: P02730
Ensembl: ENST00000262418
MIM: 109270
MIM: 110500
MIM: 112010
MIM: 112050
MIM: 130600
MIM: 179800
MIM: 601550
MIM: 601551
MIM: 611162
MIM: 611590
MIM: 612653
neXtProt: NX_P02730
Antibodypedia: P02730 (may not find the protein thus also not any antibody)
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