Ahi1 Gene Summary [Mouse]
Predicted to enable identical protein binding activity. Involved in several processes, including camera-type eye photoreceptor cell differentiation; 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; gonad; olfactory epithelium; and retina. 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, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ahi1 |
| Official Name | Abelson helper integration site 1 [Source:MGI Symbol;Acc:MGI:87971] |
| Ensembl ID | ENSMUSG00000019986 |
| Bio databases IDs | |
| Aliases | Abelson helper integration site 1 |
| Synonyms | 1700015F03Rik, Abelson helper integration site 1, D10Bwg0629e, dJ71N10.1, JBTS3, LOC103690149, ORF1 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Ahi1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- WD40 repeats
- WD domain, G-beta repeat
- WD40
- protein binding
- identical protein binding
- Src Homology 3 domain superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- multiple sclerosis
- Joubert syndrome type 1
- Joubert syndrome 3
- rheumatoid arthritis
- retinal dystrophy
- Joubert syndrome
- asthma
- retinitis pigmentosa
- Joubert syndrome with retinopathy
role in cell
- expression in
- apoptosis
- phosphorylation in
- lack
- differentiation
- development
- assembly
- extension
- stabilization in
- degeneration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- ciliary transition zone
- non-motile cilium
- cilia
- Nucleus
- basal bodies
- centrosome
- centriole
- axonemes
- intercellular junctions
- cytosol
- photoreceptor outer segments
- perikaryon
- cell-cell adherens junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ahi1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- positive regulation of receptor internalization
- specification of axis polarity
- protein localization
- transmembrane receptor protein tyrosine kinase signaling pathway
- positive regulation of transcription from RNA polymerase II promoter
- motile cilium assembly
- regulation of behavior
- vesicle-mediated transport
- central nervous system development
- hindbrain development
- negative regulation of apoptotic process
- cloaca development
- retina layer formation
- heart looping
- photoreceptor cell outer segment organization
- morphogenesis of a polarized epithelium
- otic vesicle development
- positive regulation of polarized epithelial cell differentiation
- pronephric nephron tubule morphogenesis
Cellular Component
Where in the cell the gene product is active
- adherens junction
- centrosome
- cell-cell junction
- centriole
- cilium basal body
- cilium
- cytosol
- TCTN-B9D complex
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding