Ofd1 Gene Summary [Mouse]
Enables alpha-tubulin binding activity and gamma-tubulin binding activity. Involved in several processes, including embryonic body morphogenesis; epithelial cilium movement involved in determination of left/right asymmetry; and negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation. Acts upstream of or within axoneme assembly. Located in centriolar satellite; centriole; and ciliary basal body. Is expressed in several structures, including brain; forelimb; limb bud; reproductive system; and sensory organ. Used to study orofaciodigital syndrome I. Human ortholog(s) of this gene implicated in Joubert syndrome 10; Simpson-Golabi-Behmel syndrome type 2; orofaciodigital syndrome I; retinitis pigmentosa; and retinitis pigmentosa 23. Orthologous to human OFD1 (OFD1 centriole and centriolar satellite protein). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ofd1 |
| Official Name | OFD1, centriole and centriolar satellite protein [Source:MGI Symbol;Acc:MGI:1350328] |
| Ensembl ID | ENSMUSG00000040586 |
| Bio databases IDs | |
| Aliases | OFD1, centriole and centriolar satellite protein |
| Synonyms | 71-7A, CXorf5, DXGgc7e, JBTS10, OFD1 centriole and centriolar satellite protein, OFD1, centriole and centriolar satellite protein, ORF2, RGD1562231, RP23, SGBS2 |
| 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 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 mouse 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