InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Slc4a1

Summary

InnateDB Gene

IDBG-212590.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Slc4a1

Gene Name

solute carrier family 4 (anion exchanger), member 1

Synonyms

Ae1; CD233; Empb3; l11Jus51

Species

Mus musculus

Ensembl Gene

ENSMUSG00000006574

Encoded Proteins

IDBP-212592

solute carrier family 4 (anion exchanger), member 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000004939:
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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 11:102348824-102366203

Strand

Reverse strand

Band

Transcripts

ENSMUST00000006749	ENSMUSP00000006749
ENSMUST00000149993
ENSMUST00000145636
ENSMUST00000128405
ENSMUST00000151050

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.

Experimentally validated
Total	15 [view]
Protein-Protein	15 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	10 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005215	transporter activity
GO:0005452	inorganic anion exchanger activity
GO:0005515	protein binding
GO:0008022	protein C-terminus binding
GO:0008509	anion transmembrane transporter activity
GO:0015106	bicarbonate transmembrane transporter activity
GO:0015108	chloride transmembrane transporter activity
GO:0015301	anion:anion antiporter activity
GO:0030506	ankyrin binding
GO:0042803	protein homodimerization activity

Biological Process

GO:0006810	transport
GO:0006820	anion transport
GO:0006821	chloride transport
GO:0015701	bicarbonate transport
GO:1902476	chloride transmembrane transport

Cellular Component

GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016323	basolateral plasma membrane
GO:0030018	Z disc
GO:0030863	cortical cytoskeleton
GO:0070062	extracellular vesicular exosome
GO:0072562	blood microparticle