ahi1 Abelson helper integration site 1 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: ahi1provided by ZNC
Official Full Name: Abelson helper integration site 1provided by ZNC
Primary source: ZFIN:ZDB-GENE-060803-1
See related: Ensembl:ENSDARG00000044056 AllianceGenome:ZFIN:ZDB-GENE-060803-1
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Summary: 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). [provided by Alliance of Genome Resources, Jan 2025]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 17

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	17	NC_007128.7 (8229868..8268406, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	17	NC_007128.6 (8072690..8111228, complement)

Chromosome 17 - NC_007128.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The ahi1lri46 mutation in zebrafish resulted in shorter cone outer segments but did not affect visual behavior at 5 days after fertilization (dpf).
Title: The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival.
We cloned the full cDNA sequence of Ahi-1 homologous in zebrafish.RT-PCR reveal that ZAhi-1 expressed highest in the mature gonad. In situ hybridization results of zebrafish gonad show that ZAhi-1 only expressed in the early stages' gamete cells.[ZAhi-1]
Title: Molecular cloning of a novel gene ZAhi-1 and its expression analysis during zebrafish gametogenesis.
a role for Ahi1 in epithelial cell organization and ciliary formation and explain the ciliopathy phenotype of AHI1 mutations in man.
Title: Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development.
Results describe spatiotemporal expression patterns of AHI1 and orthologs throughout development, in human, mouse, and zebrafish, and suggest roles for AHI1 in neurodevelopmental processes behind most of the neuroanatomical defects in Joubert syndrome.
Title: Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies.

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General gene information

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Gene Ontology Provided by ZFIN

Process	Evidence Code	Pubs
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within otic vesicle development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within photoreceptor cell outer segment organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retinal ganglion cell axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: jouberin

Names: ZAhi-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001319989.1 → NP_001306918.1 jouberin

Status: VALIDATED

Source sequence(s)

BX248131, CR407704, EB855290, EB931323, EH466743

UniProtKB/TrEMBL

A0A8M1P8J8, F1QX08

Related

ENSDARP00000064667.6, ENSDART00000064668.7

Conserved Domains (4) summary

cd11812
Location:1026 → 1077

SH3_AHI-1; Src Homology 3 domain of Abelson helper integration site-1 (AHI-1)

COG2319
Location:486 → 901

WD40; WD40 repeat [General function prediction only]

cd00200
Location:540 → 840

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:549 → 589

7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

NC_007128.7 Reference GRCz11 Primary Assembly

Range

8229868..8268406 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001077561.1: Suppressed sequence

Description

NM_001077561.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.