Gene
arl6
- ID
- ZDB-GENE-041219-2
- Name
- ARF like GTPase 6
- Symbol
- arl6 Nomenclature History
- Previous Names
-
- bbs3 (1)
- zgc:101762
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have GTP binding activity. Involved in several processes, including Kupffer's vesicle development; melanosome transport; and regulation of Notch signaling pathway. Predicted to localize to axoneme. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 1; Bardet-Biedl syndrome 3; and retinitis pigmentosa 55. Is expressed in adipose tissue; brain; eye; heart; and retina. Orthologous to human ARL6 (ADP ribosylation factor like GTPase 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:101762 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Bardet-Biedl syndrome 1 | Alliance | {Bardet-Biedl syndrome 1, modifier of} | 209900 |
| Bardet-Biedl syndrome 3 | Alliance | Bardet-Biedl syndrome 3 | 600151 |
| retinitis pigmentosa 55 | Alliance | Retinitis pigmentosa 55 | 613575 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR005225 | Small GTP-binding domain |
| Family | IPR006689 | Small GTPase superfamily, ARF/SAR type |
| Family | IPR024156 | Small GTPase superfamily, ARF type |
| Family | IPR041839 | ADP-ribosylation factor-like protein 6 |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Domain Details Per Protein
| Protein | Length | ADP-ribosylation factor-like protein 6 | P-loop containing nucleoside triphosphate hydrolase | Small GTPase superfamily, ARF/SAR type | Small GTPase superfamily, ARF type | Small GTP-binding domain |
|---|---|---|---|---|---|---|
|
UniProtKB:B2GRI2
|
186 | |||||
|
UniProtKB:A0A8M9PSD0
|
194 | |||||
|
UniProtKB:Q5M9P8
|
186 |
Interactions and Pathways
No data available
Plasmids
No data available