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 integral component of membrane. Human ortholog(s) of this gene implicated in congenital hemolytic anemia; hereditary spherocytosis; hereditary spherocytosis type 4; malaria; and renal tubular acidosis. Is expressed in ball; gill; ionocyte; and sensory system. 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