SLC4A1 - solute carrier family 4 member 1 (Diego blood group) Gene
Also Known as DI; FR; SW; WD; WR; AE1; CHC; SAO; WD1; BND3; EPB3; SPH4; CD233; EMPB3; RTA1A
Species: Homo sapiens
About SLC4A1
This gene has 4 transcripts (splice variants), 279 orthologues, 9 paralogues and is associated with 20 phenotypes. Restricted expression toward bone marrow (RPKM 157.0).
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]
SLC4A1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000342.4 | NP_000333.1 | band 3 anion transport protein |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| enables ankyrin binding |
IPI
IPI: Inferred from physical interaction
|
379653 | GOA |
| enables bicarbonate transmembrane transporter activity |
IDA
IDA: Inferred from direct assay
|
24121512 | GOA |
| enables chloride:bicarbonate antiporter activity |
IDA
IDA: Inferred from direct assay
|
28387307 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
2204832 | GOA |
| enables protein homodimerization activity |
IPI
IPI: Inferred from physical interaction
|
379653 | GOA |
| enables solute:inorganic anion antiporter activity |
IDA
IDA: Inferred from direct assay
|
14734552 | GOA |
| Biological Process GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| involved in bicarbonate transport |
IDA
IDA: Inferred from direct assay
|
24121512 | GOA |
| involved in chloride transmembrane transport |
IDA
IDA: Inferred from direct assay
|
14734552 | GOA |
| Cellular Component GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| part of ankyrin-1 complex |
IDA
IDA: Inferred from direct assay
|
35835865 | GOA |
| located in basolateral plasma membrane |
IDA
IDA: Inferred from direct assay
|
12539048 | GOA |
| located in cortical cytoskeleton |
IDA
IDA: Inferred from direct assay
|
16669616 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
379653 | GOA |
SLC4A1 Protein Structure
Band_3_cyto: Band 3 cytoplasmic domain (90 - 328)
HCO3_cotransp: HCO3- transporter family (371 - 557)
HCO3_cotransp: HCO3- transporter family (564 - 839)
- 0
- 200
- 400
- 600
- 800
- 911 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
band 3 anion transport protein |
|
SLC4A1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Références |
|---|---|---|---|---|---|---|---|
|
Intra
|
SLC4A1 | P02730 | ADAM33 | Homo sapiens | Q08AM2 | 32296183 | |
|
Intra
|
SLC4A1 | P02730 | CFHR5 | Homo sapiens | Q9BXR6 | 32296183 | |
|
Intra
|
SLC4A1 | P02730 | STOM | Homo sapiens | P27105 | 23219802 | |
|
Intra
|
SLC4A1 | P02730 | STOM | Homo sapiens | P27105 | 23219802 | |
|
Intra
|
SLC4A1 | P02730 | TMEM60 | Homo sapiens | Q9H2L4 | 32296183 | |
|
Intra
|
SLC4A1 | P02730 | GYPA | Homo sapiens | P02724 | 23219802 | |
|
Intra
|
SLC4A1 | P02730 | ATP1B1 | Homo sapiens | P05026 | 25012180 | |
|
Intra
|
SLC4A1 | P02730 | ATP1B1 | Homo sapiens | P05026 | 25012180 | |
|
Intra
|
SLC4A1 | P02730 | ATP1B1 | Homo sapiens | P05026 | 25012180 | |
|
Intra
|
SLC4A1 | P02730 | ATP1B1 | Homo sapiens | P05026 | 25012180 |
SLC4A1 Anticorps
| Cat. No. | Nom du produit | Application | Reactivity |
|---|---|---|---|
| HY-P82074 | Band 3 Antibody (YA1819) | WB, IHC-P, ICC/IF | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Renal Tubular Acidosis, Distal, 1 |
|
|
| Cryohydrocytosis |
|
|
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
|
| Ovalocytosis, Southeast Asian |
|
|
| Spherocytosis, Type 4 |
|
|
| Malaria |
|
|
| Blood Group, Diego System |
|
|
| Blood Group--Swann System |
|
|
| Blood Group--Wright Antigen |
|
|
| Renal Tubular Acidosis |
|
|
| Distal Renal Tubular Acidosis |
|
|
| Distal Renal Tubular Acidosis With Hemolytic Anemia |
|
|
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
|
| Hereditary Spherocytosis |
|
|
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
|
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
|
| Nephrocalcinosis |
|
|
| Hemolytic Anemia |
|
|
| Hereditary Elliptocytosis |
|
|
| Blood Group Incompatibility |
|
|
| Metabolic Acidosis |
|
|
| Kernicterus |
|
|
| Tetanus Neonatorum |
|
|
| Corneal Endothelial Dystrophy |
|
|
| Priapism |
|
|
| Respiratory Failure |
|
|
| Congenital Dyserythropoietic Anemia |
|
|
| Corneal Dystrophy And Perceptive Deafness |
|
|
| Thalassemia |
|
|
| Pendred Syndrome |
|
|
| Glutamate-Cysteine Ligase Deficiency |
|
|
| Plasmodium Falciparum Malaria |
|
|
| Nephrolithiasis |
|
|
| Rift Valley Fever |
|
|
| Renal Tubular Transport Disease |
|
|
| Osteopetrosis, Autosomal Recessive 3 |
|
|
| Overhydrated Hereditary Stomatocytosis |
|
|
| Beta-Thalassemia |
|
|
| Splenomegaly |
|
|
| Osteopetrosis, Autosomal Recessive 6 |
|
|
| Congenital Hemolytic Anemia |
|
|
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
|
| Amelanotic Melanoma |
|
|
| Glucosephosphate Dehydrogenase Deficiency |
|
|
| Deficiency Anemia |
|
|
| Fuchs' Endothelial Dystrophy |
|
|
| Gilbert Syndrome |
|
|
| Alpha-Thalassemia |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | SLC4A1 | VGNC | VGNC:49095 |
| Bos taurus | SLC4A1 | VGNC | VGNC:55870 |
| Macaca mulatta | SLC4A1 | VGNC | VGNC:99259 |
| Rattus norvegicus | SLC4A1 | RGD | RGD:3710 |
| Felis catus | SLC4A1 | VGNC | VGNC:99454 |
| Mus musculus | SLC4A1 | MGD | MGI:109393 |
| Others | SLC4A1 | NCBI |