Slc4a1 Gene Summary [Mouse]
Enables ankyrin binding activity; chloride:bicarbonate antiporter activity; and hemoglobin binding activity. Involved in chloride transport. Acts upstream of or within several processes, including bicarbonate transport; negative regulation of glycolytic process through fructose-6-phosphate; and pH elevation. Located in basolateral plasma membrane; cortical cytoskeleton; and cytoplasmic side of plasma membrane. Is expressed in several structures, including blood; cardiovascular system; liver; lung; and metanephros. Used to study hereditary spherocytosis type 4 and renal tubular acidosis. Human ortholog(s) of this gene implicated in congenital hemolytic anemia; hereditary spherocytosis; and renal tubular acidosis. Orthologous to human SLC4A1 (solute carrier family 4 member 1 (Diego blood group)). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Slc4a1 |
| Official Name | solute carrier family 4 (anion exchanger), member 1 [Source:MGI Symbol;Acc:MGI:109393] |
| Ensembl ID | ENSMUSG00000006574 |
| Bio databases IDs | |
| Aliases | solute carrier family 4 (anion exchanger), member 1 |
| Synonyms | AE1, Band 3, BND3, CD233, CHC, DI, EL4, EMPB3, EPB3, FR, KB3, l11Jus51, LOC100131164, RTA1A, SAO, solute carrier family 4 (anion exchanger), member 1, solute carrier family 4 member 1 (Diego blood group), SPH4, SW, WD, WD1, WR |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Slc4a1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ectoplasmic loop
- protein binding activity, bridging
- enzyme binding
- protein binding
- anion exchange protein
- chloride transporter
- bicarbonate transporter
- anion transporter
- HCO3- transporter family
- Band 3 cytoplasmic domain
- binding protein
- cytoplasmic domain
- ankyrin binding
- actin binding
- transmembrane domain
- antiporter
- protein homodimerization
- extracellular loop
- hemoglobin binding
- inorganic anion exchanger
- carbonic anhydrase 2 binding domain
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hemolysis
- growth failure
- autosomal dominant distal renal tubular acidosis
- hereditary spherocytosis
- microcytosis
- hereditary disorder
- hypercalciuria
- distal renal tubular acidosis
- distal renal tubular acidosis with hemolytic anemia type 4
- cryohydrocytosis
phenotypes
- abnormal blood homeostasis
- abnormal bone marrow cell number
- abnormal definitive hematopoiesis
- abnormal erythroblast morphology
- abnormal erythrocyte cell number
- abnormal erythrocyte morphology
- abnormal heart shape
- abnormal hemoglobin
- abnormal immune system organ morphology
- abnormal kidney physiology
- abnormal mean corpuscular hemoglobin
- abnormal mean corpuscular volume
- abnormal physiological response to xenobiotic
- abnormal proerythroblast morphology
- abnormal splenic cell ratio
- abnormal urine homeostasis
- absent erythroid progenitor cell
- acidemia
- anemia
- binucleate
- cardiac hypertrophy
- cardiac interstitial fibrosis
- decreased body size
- decreased body weight
- decreased circulating bicarbonate level
- decreased creatinine clearance
- decreased erythrocyte cell number
- decreased hematocrit
- decreased hemoglobin content
- decreased mean corpuscular volume
- decreased survivor rate
- decreased urine osmolality
- decreased ventricle muscle contractility
- dehydration
- dilated heart left ventricle
- enlarged spleen
- hemolysis
- hemolytic anemia
- hyperchromasia
- increased blood osmolality
- increased blood urea nitrogen level
- increased circulating chloride level
- increased circulating phosphate level
- increased erythrocyte osmotic fragility
- increased heart rate
- increased mean corpuscular volume
- increased nucleated erythrocyte cell number
- increased sensitivity to xenobiotic induced morbidity/mortality
- increased urine calcium level
- increased urine pH
- kidney medulla atrophy
- low mean erythrocyte cell number
- macrocytic anemia
- metabolic acidosis
- microcytic anemia
- microcytosis
- nephrocalcinosis
- pallor
- poikilocytosis
- polychromatophilia
- polyuria
- postnatal growth retardation
- postnatal lethality complete penetrance
- postnatal lethality incomplete penetrance
- premature death
- reticulocytopenia
- reticulocytosis
- slow postnatal weight gain
- spherocytosis
- stomatocytosis
- thrombocytopenia
- weight loss
role in cell
- number
- proliferation
- expression in
- growth
- adhesion
- binding
- differentiation
- quantity
- mean corpuscular volume
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cortical cytoskeleton
- cilia
- cell surface
- intracellular space
- cellular membrane
- Nucleus
- vesicles
- intercellular junctions
- basolateral cell surfaces
- cytoplasmic face of plasma membrane
- basolateral membrane
- Z line
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Slc4a1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transmembrane transport
- pH elevation
- erythrocyte development
- blood coagulation
- anion transport
- chloride transport
- cellular ion homeostasis
- regulation of intracellular pH
- phospholipid scrambling
- negative regulation of urine volume
- bicarbonate transport
- protein localization in plasma membrane
Cellular Component
Where in the cell the gene product is active
- Z disc
- extracellular vesicular exosome
- blood microparticle
- membrane
- basolateral plasma membrane
- plasma membrane
- cortical cytoskeleton
- internal side of plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein homodimerization activity
- ankyrin binding
- protein anchor
- anion transmembrane transporter activity
- hemoglobin binding
- inorganic anion exchanger activity
- chloride transmembrane transporter activity
- bicarbonate transmembrane transporter activity