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; otic vesicle development; and photoreceptor cell outer segment organization. Used to study Joubert syndrome. Human ortholog(s) of this gene implicated in Joubert syndrome 3; Joubert syndrome 4; and autism spectrum disorder. Is expressed in several structures, including Kupffer's vesicle; digestive system; nervous system; optic vesicle; and pleuroperitoneal region. 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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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

Human Disease	Fish	Conditions	Citations
Joubert syndrome	ahi1^lri46/lri46	standard conditions	Lessieur et al., 2017

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	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	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

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	ahi1-201 (1) Ensembl	Ensembl	3,983 nt	Select Tool ZFIN BLAST
mRNA	ahi1-202 (1) Ensembl	Ensembl	3,955 nt	Select Tool
mRNA	ahi1-204 (1) Ensembl	Ensembl	3,686 nt	Select Tool
ncRNA	ahi1-003 (1) Ensembl	Ensembl	545 nt	Select Tool

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