AHI1 Gene Summary [Human]
This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
Details
| Type | Processed Transcript |
| Official Symbol | AHI1 |
| Official Name | Abelson helper integration site 1 [Source:HGNC Symbol;Acc:HGNC:21575] |
| Ensembl ID | ENSG00000135541 |
| Bio databases IDs | |
| Aliases | Abelson helper integration site 1, Jouberin |
| Synonyms | 1700015F03Rik, Abelson helper integration site 1, D10Bwg0629e, dJ71N10.1, JBTS3, LOC103690149, ORF1 |
| Species | Human, Homo sapiens |
| 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 human 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 human 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