KIAA0586 Gene Summary [Human]
This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Aug 2016]
Details
| Type | Protein Coding |
| Official Symbol | KIAA0586 |
| Official Name | KIAA0586 [Source:HGNC Symbol;Acc:HGNC:19960] |
| Ensembl ID | ENSG00000100578 |
| Bio databases IDs | |
| Aliases | KIAA0586 |
| Synonyms | 2700049A03Rik, JBTS23, KIAA0586 homolog, mKIAA0586, RGD1311562, RIKEN cDNA 2700049A03 gene, SRTD14, Ta3, Talpid3 |
| 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 KIAA0586 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- Hedgehog signalling target
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Jeune syndrome
- joubert syndrome type 23
- hereditary disorder
- neurodevelopmental disorder
- Joubert syndrome related disorder
- ciliopathy
- Joubert syndrome type 1
- retinal dystrophy
- short-rib thoracic dysplasia type 14 with polydactyly
- Cogan-type congenital oculomotor apraxia
role in cell
- migration
- proliferation
- formation
- anchoring
- assembly
- abnormal morphology
- lack
- mislocalization
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
- basal bodies
- centrosome
- centriole
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KIAA0586 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- smoothened signaling pathway
- regulation of establishment of protein localization
Cellular Component
Where in the cell the gene product is active
- centrosome
- cytoplasm
- cilium basal body
- centriole
- photoreceptor inner segment
Molecular Function
What the gene product does at the molecular level
- protein binding