Ahi1 - Abelson helper integration site 1 Gene

Also Known as Ahi-1; D10Bwg0629e; 1700015F03Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 52906

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
21146532 MGI
Biological Process GO Annotation Evidence References 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 References 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

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