InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: SLC4A1

Summary

InnateDB Gene

IDBG-53601.6

Last Modified

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

Gene Symbol

SLC4A1

Gene Name

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

Synonyms

AE1; BND3; CD233; DI; EMPB3; EPB3; FR; RTA1A; SW; WD; WD1; WR

Species

Homo sapiens

Ensembl Gene

ENSG00000004939

Encoded Proteins

IDBP-53603

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

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 17:44248385-44268141

Strand

Reverse strand

Band

q21.31

Transcripts

ENST00000262418	ENSP00000262418
ENST00000497360
ENST00000471005
ENST00000498270

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	23 [view]
Protein-Protein	19 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [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
GO:0043495	protein anchor

Biological Process

GO:0006810	transport
GO:0006811	ion transport
GO:0006820	anion transport
GO:0006821	chloride transport
GO:0006873	cellular ion homeostasis
GO:0015701	bicarbonate transport
GO:0044281	small molecule metabolic process
GO:0055085	transmembrane transport
GO:1902476	chloride transmembrane transport

Cellular Component

GO:0005886	plasma membrane
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

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000006574

View Gene Order

ENSBTAG00000001610

Not yet available

Pathways

NETPATH

REACTOME

REACT_19298

Bicarbonate transporters pathway

REACT_19397

Transport of inorganic cations/anions and amino acids/oligopeptides pathway

REACT_121380

Erythrocytes take up oxygen and release carbon dioxide pathway

REACT_121329

Erythrocytes take up carbon dioxide and release oxygen pathway

REACT_15518

Transmembrane transport of small molecules pathway

REACT_120969

O2/CO2 exchange in erythrocytes pathway

REACT_111217

Metabolism pathway

REACT_19118

SLC-mediated transmembrane transport pathway

KEGG

hsa04966

Collecting duct acid secretion pathway

INOH

PID NCI

Cross-References

SwissProt

P02730

TrEMBL

E2J824 E2RVJ0 P78488 Q6LDU9

UniProt Splice Variant

Entrez Gene

6521

UniGene

Hs.443948 Hs.636303

RefSeq

NM_000342 XM_005257592 XM_005257593

HUGO

HGNC:11027

OMIM

109270

CCDS

CCDS11481

HPRD

IMGT

EMBL

AB526447 BC096106 BC096107 BC099628 BC099629 BC101570 BC101574 CH471178 DQ072115 DQ419529 GQ981383 GQ981384 HQ014594 HQ014595 HQ014596 HQ014597 HQ014598 M16978 M16979 M27819 S68680 X12609

GenPept

AAA35514 AAA51670 AAA51671 AAC60608 AAH96106 AAH96107 AAH99628 AAH99629 AAI01571 AAI01575 AAY57324 ABD74692 ADN22950 ADN22951 ADN22952 ADN22953 ADN22954 ADN39420 ADN39421 BAJ22989 CAA31128 EAW51614

RNA Seq Atlas

6521