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
Description
Involved in several processes, including motile cilium assembly; neuron development; and otic vesicle development. 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
Expression
All Expression Data
8 figures from 6 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
16 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ahi1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Joubert syndrome 3 Alliance Joubert syndrome 3 608629
Associated With ahi1 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR019775 WD40 repeat, conserved site
Domain IPR001452 SH3 domain
Domain IPR017986 WD40-repeat-containing domain
Domain IPR035832 Jouberin, SH3 domain
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 Length Jouberin, SH3 domain SH3 domain SH3-like domain superfamily WD40 repeat WD40 repeat, conserved site WD40-repeat-containing domain WD40-repeat-containing domain superfamily WD40/YVTN repeat-like-containing domain superfamily
UniProtKB:Q07DM1 934
UniProtKB:F1QX08 1190
UniProtKB:F8W3V6 1193
UniProtKB:B3DJG1 1076
UniProtKB:F8W4S4 1091
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations