Gene
atp6v1e1b
- ID
- ZDB-GENE-020419-11
- Name
- ATPase H+ transporting V1 subunit E1b
- Symbol
- atp6v1e1b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Exhibits potassium:proton exchanging ATPase activity. Involved in several processes, including caudal fin development; fin regeneration; and notochord cell vacuolation. Predicted to localize to proton-transporting two-sector ATPase complex, catalytic domain. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IIC. Is expressed in several structures, including digestive system; eye; gonad; heart; and unfertilized egg. Orthologous to several human genes including ATP6V1E1 (ATPase H+ transporting V1 subunit E1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 4 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 |
|---|---|---|---|
| autosomal recessive cutis laxa type IIC | Alliance | Cutis laxa, autosomal recessive, type IIC | 617402 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | V-type ATPase subunit E | V-type ATPase subunit E, C-terminal domain superfamily |
|---|---|---|---|
|
UniProtKB:Q8JHH4
|
226 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
atp6v1e1b-201
(1)
|
Ensembl | 1,330 nt |
Interactions and Pathways
No data available
Plasmids
No data available