InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC4A1

Summary

InnateDB Protein

IDBP-53603.6

Last Modified

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

Gene Symbol

SLC4A1

Protein 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 Protein

ENSP00000262418

InnateDB Gene

IDBG-53601 (SLC4A1)

Protein Structure

UniProt Annotation

Function

Functions both as a transporter that mediates electroneutral anion exchange across the cell membrane and as a structural protein. Major integral membrane glycoprotein of the erythrocyte membrane; required for normal flexibility and stability of the erythrocyte membrane and for normal erythrocyte shape via the interactions of its cytoplasmic domain with cytoskeletal proteins, glycolytic enzymes, and hemoglobin. Functions as a transporter that mediates the 1:1 exchange of inorganic anions across the erythrocyte membrane. Mediates chloride-bicarbonate exchange in the kidney, and is required for normal acidification of the urine. {ECO:0000269PubMed:10926824, ECO:0000269PubMed:14734552, ECO:0000269PubMed:1538405, ECO:0000269PubMed:20151848, ECO:0000269PubMed:24121512}.

Subcellular Localization

Cell membrane; Multi-pass membrane protein. Basolateral cell membrane; Multi-pass membrane protein. Note=Detected in the erythrocyte cell membrane and on the basolateral membrane of alpha-intercalated cells in the collecting duct in the kidney.

Disease Associations

Elliptocytosis 4 (EL4) [MIM:109270]: A Rhesus-unlinked form of hereditary elliptocytosis, a genetically heterogeneous, autosomal dominant hematologic disorder. It is characterized by variable hemolytic anemia and elliptical or oval red cell shape. {ECO:0000269PubMed:1538405, ECO:0000269PubMed:1722314}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spherocytosis 4 (SPH4) [MIM:612653]: Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. {ECO:0000269PubMed:10580570, ECO:0000269PubMed:10745622, ECO:0000269PubMed:10942416, ECO:0000269PubMed:11380459, ECO:0000269PubMed:1378323, ECO:0000269PubMed:15813913, ECO:0000269PubMed:16227998, ECO:0000269PubMed:7530501, ECO:0000269PubMed:8547122, ECO:0000269PubMed:8640229, ECO:0000269PubMed:8943874, ECO:0000269PubMed:9012689, ECO:0000269PubMed:9207478, ECO:0000269PubMed:9233560, ECO:0000269PubMed:9973643}. Note=The disease is caused by mutations affecting the gene represented in this entry.Renal tubular acidosis, distal, autosomal dominant (AD- dRTA) [MIM:179800]: An autosomal dominant disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha- intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. Note=The disease is caused by mutations affecting the gene represented in this entry.Renal tubular acidosis, distal, with hemolytic anemia (dRTA-HA) [MIM:611590]: A disease characterized by the association of hemolytic anemia with distal renal tubular acidosis, the reduced ability to acidify urine resulting in variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. {ECO:0000269PubMed:10926824, ECO:0000269PubMed:15211439, ECO:0000269PubMed:9854053}. Note=The disease is caused by mutations affecting the gene represented in this entry.Renal tubular acidosis, distal, with normal red cell morphology (dRTA-NRC) [MIM:611590]: A disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha- intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. {ECO:0000269PubMed:15211439}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in erythrocytes (at protein level). Erythrocytes. {ECO:0000269PubMed:10926824, ECO:0000269PubMed:1538405, ECO:0000269PubMed:23219802}.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR001717 Anion exchange protein
IPR002977 Anion exchange protein 1
IPR003020 Bicarbonate transporter, eukaryotic
IPR011531 Bicarbonate transporter, C-terminal
IPR013769 Band 3 cytoplasmic domain
IPR016152 Phosphotransferase/anion transporter

PFAM

PF00955
PF07565

PRINTS

PR00165
PR01187
PR01231

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P02730