SLC4A1

GENE INFORMATION

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Gene name

SLC4A1 (HGNC Symbol)

Synonyms

AE1, CD233, DI, EPB3, FR, RTA1A, SW, WD, WR

Description

solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008]

Chromosome

17 (Chromosome progress)

Cytoband

q21.31

Chromosome location (bp)

42325753 - 42345509

Ensembl

ENSG00000004939 (version 73.37)

Entrez gene

6521

UniProt

P02730 (UniProt - Evidence at protein level)

neXtProt

NX_P02730

Antibodypedia

SLC4A1 antibodies
 

PROTEIN VIEW

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SLC4A1-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SLC4A1-001 ENSP00000262418
ENST00000262418
P02730
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