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
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 D
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
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
SLC-mediated transmembrane transport pathway
Transport of inorganic cations/anions and amino acids/oligopeptides pathway
Bicarbonate transporters pathway
Metabolism pathway
Erythrocytes take up carbon dioxide and release oxygen pathway
O2/CO2 exchange in erythrocytes pathway
Transmembrane transport of small molecules pathway
Erythrocytes take up oxygen and release carbon dioxide pathway
KEGG
Collecting duct acid secretion pathway
INOH
PID BIOCARTA
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
O2/CO2 exchange in erythrocytes pathway
Erythrocytes take up oxygen and release carbon dioxide pathway
Bicarbonate transporters pathway
Erythrocytes take up carbon dioxide and release oxygen pathway
Transport of inorganic cations/anions and amino acids/oligopeptides pathway
Metabolism pathway
SLC-mediated transmembrane transport pathway
KEGG
Collecting duct acid secretion pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P04919
TrEMBL Q3TNH7 Q3TZ12 Q3TZ29 Q53ZN9
UniProt Splice Variant
Entrez Gene 20533
UniGene Mm.416386 Mm.7248
RefSeq NM_011403
OMIM
CCDS CCDS25496
HPRD
IMGT
MGI ID MGI:109393
MGI Symbol Slc4a1
EMBL AK137542 AK158143 AK158184 AK158243 AK158453 AK162616 AK165267 AK172316 AK172395 AK172569 AY296129 BC052419 BC053429 CH466558 J02756 M29379 X02677 X03917
GenPept AAA37187 AAA37278 AAH52419 AAH53429 AAP51174 BAE23401 BAE34381 BAE34398 BAE34420 BAE34515 BAE36992 BAE38112 BAE42941 BAE42983 BAE43071 CAA26506 CAA27555 EDL34115 EDL34116 EDL34117
RNA Seq Atlas 20533