ZFIN is now using GRCz12tu for Genomic Data
Gene
ahi1
- ID
- ZDB-GENE-060803-1
- Name
- Abelson helper integration site 1
- Symbol
- ahi1 Nomenclature History
- Previous Names
-
- ZAhi-1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Acts upstream of or within several processes, including motile cilium assembly; neuron development; and otic vesicle development. Predicted to be active in ciliary basal body. Is expressed in several structures, including Kupffer's vesicle; digestive system; nervous system; optic vesicle; and pleuroperitoneal region. Used to study Joubert syndrome. Human ortholog(s) of this gene implicated in Joubert syndrome 3; Joubert syndrome 4; and autism spectrum disorder. Orthologous to human AHI1 (Abelson helper integration site 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 16 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Joubert syndrome 3 | Alliance | Joubert syndrome 3 | 608629 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Joubert syndrome | ahi1lri46/lri46 | standard conditions | Lessieur et al., 2017 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR019775 | WD40 repeat, conserved site |
| Domain | IPR001452 | SH3 domain |
| Domain | IPR035832 | Jouberin, SH3 domain |
| Family | IPR052803 | Primary Cilium-Associated Jouberin |
| Homologous_superfamily | IPR015943 | WD40/YVTN repeat-like-containing domain superfamily |
| Homologous_superfamily | IPR036028 | SH3-like domain superfamily |
| Homologous_superfamily | IPR036322 | WD40-repeat-containing domain superfamily |
| Repeat | IPR001680 | WD40 repeat |
Domain Details Per Protein
| Protein | Additional Resources | Length | Jouberin, SH3 domain | Primary Cilium-Associated Jouberin | SH3 domain | SH3-like domain superfamily | WD40 repeat | WD40 repeat, conserved site | WD40-repeat-containing domain superfamily | WD40/YVTN repeat-like-containing domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:F1QX08 | InterPro | 1190 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers