KIAA0753 Gene Summary [Human]
This gene encodes a subunit of a protein complex that regulates ciliogenesis and cilia maintenance. The encoded protein has also been shown to regulate centriolar duplication. Mutations in this gene cause an orofaciodigital syndrome and a form of Joubert syndrome in human patients. [provided by RefSeq, May 2017]
Details
| Type | Protein Coding |
| Official Symbol | KIAA0753 |
| Official Name | KIAA0753 [Source:HGNC Symbol;Acc:HGNC:29110] |
| Ensembl ID | ENSG00000198920 |
| Bio databases IDs | |
| Aliases | KIAA0753, moonraker, OFD1 and FOR20 interacting protein |
| Synonyms | 4933427D14Rik, 4933427D14Rikl, Gm43951, JBTS38, MNR, OFIP, RGD1304728, RIKEN cDNA 4933427D14 gene, RIKEN cDNA 4933427D14 gene like, SRTD21 |
| 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 KIAA0753 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 moonraker
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- short-rib thoracic dysplasia type 21
- short-rib thoracic dysplasia type 21 without polydactyly
- orofaciodigital syndrome type 15
- Joubert syndrome type 38
- Jeune syndrome
- hereditary disorder
role in cell
- assembly
- duplication
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
- cilia
- basal bodies
- centrosome
- Endoplasmic Reticulum
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KIAA0753 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- centriole replication
- protein localization to centrosome
Cellular Component
Where in the cell the gene product is active
- centrosome
- centriole
- centriolar satellite
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- 2 iron, 2 sulfur cluster binding