OFD1 Gene: Centriole and Centriolar Satellite Protein
Genetic insights into OFD1-related ciliopathies and cancer
Gene Information Card
| Symbol | OFD1 |
|---|---|
| Full Name | OFD1 centriole and centriolar satellite protein |
| Gene Type | protein coding |
| Chromosomal Location | Xp22.2 |
| NCBI Gene ID | 8481 ncbi.nlm.nih.gov/gene/8481 |
| Ensembl ID | ENSG00000046651 |
| UniProt ID | O75665 |
| OMIM ID | 300170 |
| HGNC ID | 8107 |
| Aliases | CXorf5, 71-7A, JBTS10, RP23 |
Description
The OFD1 gene encodes a protein localized to the centrosome and centriolar satellites, essential for primary cilia formation and function. Mutations in OFD1 cause oral-facial-digital syndrome type 1 (OFDS1), an X-linked dominant ciliopathy, as well as other ciliopathies such as Joubert syndrome and retinitis pigmentosa. OFD1 is also implicated in cancer due to its role in cell cycle regulation and ciliary signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Oral-facial-digital syndrome type 1 (OFDS1) | Loss-of-function mutations lead to defective primary cilia formation, affecting craniofacial, oral, and digital development. | ClinVar, OMIM |
| Joubert syndrome 10 (JBTS10) | Mutations impair ciliary function in cerebellar and retinal development, causing the characteristic brain malformation and retinal dystrophy. | OMIM, PubMed |
| Retinitis pigmentosa 23 (RP23) | OFD1 mutations cause progressive photoreceptor degeneration due to defective ciliary transport in retinal cells. | OMIM, PubMed |
| Simpson-Golabi-Behmel syndrome type 2 (SGBS2) | Rarely, OFD1 mutations have been associated with this overgrowth syndrome, though the mechanism is less clear. | OMIM |
| Cancer (various) | OFD1 overexpression or dysregulation may promote tumorigenesis by disrupting ciliary signaling and cell cycle control. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.2 | Medium |
| Kidney | 12.5 | Low |
| Brain | 10.1 | Low |
| Lung | 8.3 | Low |
| Liver | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.4 | Cervical cancer cell line; high expression |
| A549 | 12.1 | Lung carcinoma; moderate expression |
| HEK293 | 11.8 | Embryonic kidney; moderate expression |
| MCF7 | 9.2 | Breast cancer; low expression |
| K562 | 7.5 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2542C>T (p.Arg848Ter) | Nonsense | Rare | Loss of function; causes OFDS1 |
| c.2209C>T (p.Arg737Ter) | Nonsense | Rare | Loss of function; causes OFDS1 |
| c.2465G>A (p.Trp822Ter) | Nonsense | Rare | Loss of function; causes OFDS1 |
| c.1913G>A (p.Trp638Ter) | Nonsense | Rare | Loss of function; causes OFDS1 |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of function; affects start codon |
| c.2743C>T (p.Arg915Ter) | Nonsense | Rare | Loss of function; causes JBTS10 |
| c.2834G>A (p.Trp945Ter) | Nonsense | Rare | Loss of function; causes RP23 |
Mutation functional classification
Loss of Function (LOF)
Most OFD1 mutations are loss-of-function, leading to truncated or absent protein, impairing ciliogenesis and causing ciliopathies.
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression in cancer may act as an oncogenic event.
Dominant Negative (DN)
Not well established; some missense mutations may exert dominant-negative effects by interfering with centriolar satellite assembly.
View complete mutation data：
Gene Ontology (GO)
| • centriole | • centriolar satellite |
| • cilium assembly | • protein binding |
| • centrosome | • microtubule organizing center |
| • cell cycle | • primary cilia |
Pathways
• Ciliopathy
• Primary cilia assembly
• Hedgehog signaling
• Cell cycle regulation
Protein Summary
The OFD1 protein is a component of centriolar satellites, which are granules that transport proteins to the centrosome and ciliary base. It is essential for primary cilia formation and for the regulation of ciliary length and signaling. OFD1 interacts with other ciliopathy proteins and is involved in the recruitment of the BBSome and other ciliary components. Its dysfunction leads to impaired ciliary signaling, affecting development and tissue homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OFD1 Knockout HEK293 Cell Line | EDJ-KQ6251 | Human | 8481 | Details Get a Quote |
| OFD1 Knockout A-549 Cell Line | EDJ-KQ30116 | Human | 8481 | Details Get a Quote |
| OFD1 Knockout HeLa Cell Line | EDJ-KQ30118 | Human | 8481 | Details Get a Quote |
| OFD1 Knockout HCT 116 Cell Line | EDJ-KQ28811 | Human | 8481 | Details Get a Quote |
