OFD1 Gene Summary [Human]
This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016]
Details
| Type | Retained Intron |
| Official Symbol | OFD1 |
| Official Name | OFD1 centriole and centriolar satellite protein [Source:HGNC Symbol;Acc:HGNC:2567] |
| Ensembl ID | ENSG00000046651 |
| Bio databases IDs | |
| Aliases | OFD1 centriole and centriolar satellite protein, Joubert syndrome type 10 |
| Synonyms | 71-7A, CXorf5, DXGgc7e, JBTS10, OFD1 centriole and centriolar satellite protein, OFD1, centriole and centriolar satellite protein, ORF2, RGD1562231, RP23, SGBS2 |
| 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 OFD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- gamma-tubulin binding
- alpha-tubulin binding
- protein binding
- Spc7 kinetochore protein
- LisH
- identical 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
- liver cirrhosis
- hepatocellular carcinoma
- epithelial cancer
- orofaciodigital syndrome type 1
- primary ciliary dyskinesia
- hereditary disorder
- retinal dystrophy
- joubert syndrome type 10
- liver cancer
- cervical cancer
role in cell
- expression in
- adhesion
- apoptosis
- formation
- elongation
- assembly
- length
- degradation in
- elongation in
- ciliogenesis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- detergent resistant lipid raft fraction
- daughter centriole
- mother centriole
- microtubule cytoskeleton
- Cytoplasm
- cilia
- perinuclear region
- basal bodies
- centrosome
- centriole
- cytosol
- pro-centriole
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human OFD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- epithelial cilium movement involved in determination of left/right asymmetry
- cilium morphogenesis
- centriole replication
- embryonic body morphogenesis
- axoneme assembly
- negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation
- mitotic cell cycle
- spindle assembly involved in mitosis
Cellular Component
Where in the cell the gene product is active
- nucleus
- centrosome
- microtubule cytoskeleton
- motile cilium
- cilium basal body
- centriole
- centriolar satellite
- membrane
- cilium
- cytosol
- extracellular region
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- gamma-tubulin binding
- alpha-tubulin binding
- binding, bridging