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 ZFIN BLAST
mRNA	ahi1-204 (1) Ensembl	Ensembl	3,686 nt	Select Tool ZFIN BLAST
ncRNA	ahi1-003 (1) Ensembl	Ensembl	545 nt	Select Tool ZFIN BLAST

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