Gene
tcirg1a
- ID
- ZDB-GENE-090311-31
- Name
- T cell immune regulator 1, ATPase H+ transporting V0 subunit a3a
- Symbol
- tcirg1a Nomenclature History
- Previous Names
-
- tcirg1
- si:dkey-9i23.9
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have ATPase binding activity and proton-transporting ATPase activity, rotational mechanism. Predicted to be involved in vacuolar acidification. Predicted to localize to plasma membrane and vacuolar proton-transporting V-type ATPase complex. Human ortholog(s) of this gene implicated in autosomal recessive osteopetrosis 1. Orthologous to human TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive osteopetrosis 1 | Alliance | Osteopetrosis, autosomal recessive 1 | 259700 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | ATPase, V0 complex, subunit 116kDa, eukaryotic | V-type ATPase, V0 complex, 116kDa subunit family |
|---|---|---|---|
|
UniProtKB:B8A655
|
823 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
tcirg1a-201
(1)
|
Ensembl | 3,339 nt | ||
| mRNA |
tcirg1a-202
(1)
|
Ensembl | 2,469 nt |
Interactions and Pathways
No data available
Plasmids
No data available