POC1B
POC1 centriolar protein B
Gene Information Card
| Symbol | POC1B |
|---|---|
| Full Name | POC1 centriolar protein B |
| Gene Type | protein-coding |
| Chromosomal Location | 12q21.33 |
| NCBI Gene ID | 55007 ncbi.nlm.nih.gov/gene/55007 |
| Ensembl ID | ENSG00000139329 |
| UniProt ID | Q8TC44 |
| OMIM ID | 614784 |
| HGNC ID | 24458 |
| Aliases | PIX1, POC1B, FLJ10895 |
Description
POC1B (POC1 centriolar protein B) is a protein-coding gene located on chromosome 12q21.33. It encodes a component of the centriole and is essential for ciliogenesis and centrosome function. Mutations in POC1B are associated with autosomal recessive cone-rod dystrophy (CORD20) and short-rib thoracic dysplasia with or without polydactyly. The protein localizes to the centriole and interacts with other ciliary proteins to maintain ciliary structure and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cone-rod dystrophy 20 (CORD20) | Loss-of-function mutations disrupt centriolar integrity, impairing photoreceptor cilia and leading to progressive retinal degeneration. | ClinVar, OMIM |
| Short-rib thoracic dysplasia with or without polydactyly | Defective ciliogenesis due to POC1B mutations causes skeletal abnormalities and thoracic narrowing. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Retina | 9.8 | Medium |
| Brain | 6.5 | Low |
| Lung | 4.2 | Low |
| Kidney | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.7 | Cervical cancer cell line |
| HEK293 | 7.2 | Embryonic kidney cells |
| ARPE-19 | 6.5 | Retinal pigment epithelium |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.317C>T (p.Thr106Ile) | Missense | Rare | Likely pathogenic; disrupts protein stability |
| c.622C>T (p.Arg208*) | Nonsense | Rare | Loss-of-function; truncation |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss-of-function; no protein produced |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations lead to truncated or absent POC1B protein, impairing centriole assembly and ciliogenesis.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • centrosome (GO:0005813) | • cilium (GO:0005929) |
| • ciliary basal body (GO:0036064) | • cell projection (GO:0042995) |
| • protein binding (GO:0005515) |
Pathways
• Centrosome maturation and ciliogenesis
• Photoreceptor cell maintenance
Protein Summary
POC1B is a 407-amino acid protein containing a WD40 domain that mediates protein-protein interactions. It localizes to the centriole and is required for ciliary assembly and stability. The protein interacts with POC1A and other centriolar components to regulate centrosome duplication and ciliogenesis. In photoreceptors, POC1B is essential for the formation and maintenance of the connecting cilium, which is critical for visual signal transduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POC1B Knockout HEK293 Cell Line | EDJ-KQ14824 | Human | 282809 | Details Get a Quote |
| POC1B Knockout A-549 Cell Line | EDJ-KQ45260 | Human | 282809 | Details Get a Quote |
| POC1B Knockout HCT 116 Cell Line | EDJ-KQ45261 | Human | 282809 | Details Get a Quote |
| POC1B Knockout HeLa Cell Line | EDJ-KQ45262 | Human | 282809 | Details Get a Quote |
| POC1B-GALNT4 Knockout HEK293 Cell Line | EDJ-KQ52487 | Human | 100528030 | Details Get a Quote |
| POC1B-GALNT4 Knockout HeLa Cell Line | EDJ-KQ60950 | Human | 100528030 | Details Get a Quote |
| POC1B-GALNT4 Knockout A-549 Cell Line | EDJ-KQ69425 | Human | 100528030 | Details Get a Quote |
| POC1B-GALNT4 Knockout HCT 116 Cell Line | EDJ-KQ77776 | Human | 100528030 | Details Get a Quote |
