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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
Acts upstream of or within 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
Comparative Information
Expression
All Expression Data
8 figures from 6 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression 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:F8W3V6 1193
UniProtKB:F8W4S4 1091
UniProtKB:B3DJG1 1076
UniProtKB:Q07DM1 934
UniProtKB:F1QX08 1190
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations