Ahi1 - Abelson helper integration site 1 Gene

Mus musculus

Also known as Ahi-1; D10Bwg0629e; 1700015F03Rik

Gene ID: 52906 | Gene type: protein coding

About Ahi1

Summary

Predicted to enable identical protein binding activity. Involved in several processes, including animal organ development; positive regulation of cellular component organization; and positive regulation of polarized epithelial cell differentiation. Acts upstream of or within several processes, including non-motile cilium assembly; photoreceptor cell outer segment organization; and retina development in camera-type eye. Located in microtubule organizing center and photoreceptor cell cilium. Part of MKS complex. Is expressed in several structures, including brain; ganglia; olfactory epithelium; retina; and trigeminal nerve. Used to study Joubert syndrome 3 and nephronophthisis. 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, Apr 2022]

Ahi1 Products(3)

mRNA	Protein	Name
NM_001177776.1	NP_001171247.1	jouberin isoform 2
NM_001358561.1	NP_001345490.1	jouberin isoform 3
NM_026203.3	NP_080479.2	jouberin isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21146532	MGI

Biological Process GO Annotation	Evidence	Reference	Source
involved in cell surface receptor protein tyrosine kinase signaling pathway	IMP IMP: Inferred from mutant phenotype	20956301	MGI
acts upstream of or within cilium assembly	IMP IMP: Inferred from mutant phenotype	20592197	MGI
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	19625297	MGI
involved in eye photoreceptor cell development	IDA IDA: Inferred from direct assay	20081859	MGI
involved in morphogenesis of a polarized epithelium	IMP IMP: Inferred from mutant phenotype	21959375	MGI
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	20081859	MGI
acts upstream of or within non-motile cilium assembly	IMP IMP: Inferred from mutant phenotype	19625297	MGI
involved in photoreceptor cell outer segment organization	IGI IGI: Inferred from genetic interaction	20081859	MGI
acts upstream of or within photoreceptor cell outer segment organization	IMP IMP: Inferred from mutant phenotype	20592197	MGI
acts upstream of or within positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	20592197	MGI
involved in positive regulation of growth	IDA IDA: Inferred from direct assay	18936234	MGI
involved in positive regulation of neuron projection development	IMP IMP: Inferred from mutant phenotype	18636121	MGI
involved in positive regulation of polarized epithelial cell differentiation	IMP IMP: Inferred from mutant phenotype	21959375	MGI
involved in positive regulation of receptor internalization	IMP IMP: Inferred from mutant phenotype	20956301	MGI
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	20956301	MGI
involved in protein localization	IGI IGI: Inferred from genetic interaction	20081859	MGI
acts upstream of or within protein localization to organelle	IMP IMP: Inferred from mutant phenotype	19625297	MGI
involved in regulation of behavior	IMP IMP: Inferred from mutant phenotype	20956301	MGI
involved in regulation of protein secretion	IMP IMP: Inferred from mutant phenotype	18636121	MGI
acts upstream of or within retina development in camera-type eye	IMP IMP: Inferred from mutant phenotype	20592197	MGI
involved in retinal cone cell development	IMP IMP: Inferred from mutant phenotype	20081859	MGI
involved in retinal rod cell development	IMP IMP: Inferred from mutant phenotype	20081859	MGI
acts upstream of or within vesicle targeting	IMP IMP: Inferred from mutant phenotype	20592197	MGI
acts upstream of or within vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	19625297	MGI
involved in vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	19625297	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
part of MKS complex	IDA IDA: Inferred from direct assay	22179047	MGI
located in centriole	IDA IDA: Inferred from direct assay	19625297	MGI
located in ciliary basal body	IDA IDA: Inferred from direct assay	19625297	MGI
located in cilium	IDA IDA: Inferred from direct assay	20081859	MGI
located in non-motile cilium	IDA IDA: Inferred from direct assay	19625297	MGI
located in photoreceptor distal connecting cilium	IDA IDA: Inferred from direct assay	29899041	MGI
located in photoreceptor outer segment	IDA IDA: Inferred from direct assay	20592197	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

jouberin

abelson helper integration site 1 protein

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00480	AHI1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Ahi1	NCBI	NCBI:54806

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