Gene
slc4a1b
- ID
- ZDB-GENE-110215-2
- Name
- solute carrier family 4 member 1b (Diego blood group)
- Symbol
- slc4a1b Nomenclature History
- Previous Names
-
- zAE1b (1)
- pers
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Exhibits anion:anion antiporter activity and bicarbonate transmembrane transporter activity. Involved in calcium ion import. Predicted to localize to basolateral plasma membrane. Is expressed in ball; gill; ionocyte; and sensory system. Human ortholog(s) of this gene implicated in congenital hemolytic anemia; hereditary spherocytosis; hereditary spherocytosis type 4; malaria; and renal tubular acidosis. Orthologous to human SLC4A1 (solute carrier family 4 member 1 (Diego blood group)).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 14 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary spherocytosis type 4 | Alliance | Spherocytosis, type 4 | 612653 |
| Cryohydrocytosis | 185020 | ||
| Distal renal tubular acidosis 1 | 179800 | ||
| Distal renal tubular acidosis 4 with hemolytic anemia | 611590 | ||
| Ovalocytosis, SA type | 166900 | ||
| [Blood group, Diego] | 110500 | ||
| [Blood group, Froese] | 601551 | ||
| [Blood group, Swann] | 601550 | ||
| [Blood group, Waldner] | 112010 | ||
| [Blood group, Wright] | 112050 | ||
| {Malaria, resistance to} | 611162 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018241 | Anion exchange, conserved site |
| Domain | IPR011531 | Bicarbonate transporter-like, transmembrane domain |
| Domain | IPR013769 | Band 3 cytoplasmic domain |
| Family | IPR001717 | Anion exchange protein |
| Family | IPR002977 | Anion exchange protein 1 |
| Family | IPR003020 | Bicarbonate transporter, eukaryotic |
| Homologous_superfamily | IPR016152 | Phosphotransferase/anion transporter |
Domain Details Per Protein
| Protein | Length | Anion exchange, conserved site | Anion exchange protein | Anion exchange protein 1 | Band 3 cytoplasmic domain | Bicarbonate transporter, eukaryotic | Bicarbonate transporter-like, transmembrane domain | Phosphotransferase/anion transporter |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:D1FTM8
|
851 | |||||||
|
UniProtKB:A0A8M2B229
|
845 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
slc4a1b-201
(1)
|
Ensembl | 2,938 nt | ||
| mRNA |
slc4a1b-202
(1)
|
Ensembl | 758 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-slc4a1b | polyclonal | Rabbit |
|
2 |
Plasmids
No data available