PCM1 (Pericentriolar Material 1)
A key component of centriolar satellites involved in ciliogenesis and cell cycle regulation
Gene Information Card
| Symbol | PCM1 |
|---|---|
| Full Name | Pericentriolar Material 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p22 |
| NCBI Gene ID | 5108 ncbi.nlm.nih.gov/gene/5108 |
| Ensembl ID | ENSG00000104447 |
| UniProt ID | Q15154 |
| OMIM ID | 600299 |
| HGNC ID | 8727 |
| Aliases | PTC4, PTC4L, PTC4S, PTC4L1, PTC4S1, PTC4L2, PTC4S2, PTC4L3, PTC4S3, PTC4L4, PTC4S4, PTC4L5, PTC4S5, PTC4L6, PTC4S6, PTC4L7, PTC4S7, PTC4L8, PTC4S8, PTC4L9, PTC4S9, PTC4L10, PTC4S10, PTC4L11, PTC4S11, PTC4L12, PTC4S12, PTC4L13, PTC4S13, PTC4L14, PTC4S14, PTC4L15, PTC4S15, PTC4L16, PTC4S16, PTC4L17, PTC4S17, PTC4L18, PTC4S18, PTC4L19, PTC4S19, PTC4L20, PTC4S20, PTC4L21, PTC4S21, PTC4L22, PTC4S22, PTC4L23, PTC4S23, PTC4L24, PTC4S24, PTC4L25, PTC4S25, PTC4L26, PTC4S26, PTC4L27, PTC4S27, PTC4L28, PTC4S28, PTC4L29, PTC4S29, PTC4L30, PTC4S30, PTC4L31, PTC4S31, PTC4L32, PTC4S32, PTC4L33, PTC4S33, PTC4L34, PTC4S34, PTC4L35, PTC4S35, PTC4L36, PTC4S36, PTC4L37, PTC4S37, PTC4L38, PTC4S38, PTC4L39, PTC4S39, PTC4L40, PTC4S40, PTC4L41, PTC4S41, PTC4L42, PTC4S42, PTC4L43, PTC4S43, PTC4L44, PTC4S44, PTC4L45, PTC4S45, PTC4L46, PTC4S46, PTC4L47, PTC4S47, PTC4L48, PTC4S48, PTC4L49, PTC4S49, PTC4L50, PTC4S50, PTC4L51, PTC4S51, PTC4L52, PTC4S52, PTC4L53, PTC4S53, PTC4L54, PTC4S54, PTC4L55, PTC4S55, PTC4L56, PTC4S56, PTC4L57, PTC4S57, PTC4L58, PTC4S58, PTC4L59, PTC4S59, PTC4L60, PTC4S60, PTC4L61, PTC4S61, PTC4L62, PTC4S62, PTC4L63, PTC4S63, PTC4L64, PTC4S64, PTC4L65, PTC4S65, PTC4L66, PTC4S66, PTC4L67, PTC4S67, PTC4L68, PTC4S68, PTC4L69, PTC4S69, PTC4L70, PTC4S70, PTC4L71, PTC4S71, PTC4L72, PTC4S72, PTC4L73, PTC4S73, PTC4L74, PTC4S74, PTC4L75, PTC4S75, PTC4L76, PTC4S76, PTC4L77, PTC4S77, PTC4L78, PTC4S78, PTC4L79, PTC4S79, PTC4L80, PTC4S80, PTC4L81, PTC4S81, PTC4L82, PTC4S82, PTC4L83, PTC4S83, PTC4L84, PTC4S84, PTC4L85, PTC4S85, PTC4L86, PTC4S86, PTC4L87, PTC4S87, PTC4L88, PTC4S88, PTC4L89, PTC4S89, PTC4L90, PTC4S90, PTC4L91, PTC4S91, PTC4L92, PTC4S92, PTC4L93, PTC4S93, PTC4L94, PTC4S94, PTC4L95, PTC4S95, PTC4L96, PTC4S96, PTC4L97, PTC4S97, PTC4L98, PTC4S98, PTC4L99, PTC4S99, PTC4L100, PTC4S100 |
Description
The PCM1 gene encodes pericentriolar material 1, a large coiled-coil protein that is a core component of centriolar satellites. These dynamic, granular structures surround the centrosome and facilitate the trafficking of proteins to the centrosome and cilia. PCM1 is essential for primary cilia formation (ciliogenesis), cell cycle progression, and microtubule organization. It interacts with numerous proteins including CEP290, BBS4, and OFD1, and its dysfunction is linked to ciliopathies and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Joubert syndrome | Disrupted ciliogenesis due to PCM1 deficiency; impaired protein trafficking to the primary cilium | PMID: 26092869 |
| Bardet-Biedl syndrome | PCM1 interacts with BBS4; loss of PCM1 disrupts BBSome localization and ciliary signaling | PMID: 17409310 |
| Schizophrenia | Genome-wide association studies implicate PCM1 variants in neurodevelopment; altered centrosome function | PMID: 18304490 |
| Breast cancer | PCM1 overexpression correlates with centrosome amplification and aneuploidy | PMID: 20023638 |
| Colorectal cancer | PCM1 mutations and copy number alterations found in COSMIC; potential role in chromosomal instability | COSMIC v99 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 32.5 | High |
| Brain (cerebellum) | 18.2 | Medium |
| Heart | 12.1 | Medium |
| Liver | 8.4 | Low |
| Kidney | 7.9 | Low |
| Lung | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line; high expression |
| HEK 293 | 12.8 | Embryonic kidney; moderate expression |
| MCF7 | 9.1 | Breast cancer; moderate expression |
| A549 | 7.4 | Lung cancer; low expression |
| K562 | 5.2 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.5678_5681del (p.Glu1893Valfs*2) | Frameshift | <0.01% | Loss of function; premature stop |
| c.2345G>A (p.Arg782His) | Missense | 0.02% | Unknown; predicted damaging by SIFT |
| c.8901C>G (p.Asn2967Lys) | Missense | 0.01% | Unknown; predicted benign by PolyPhen |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in PCM1 lead to truncated proteins that fail to localize to centriolar satellites, impairing ciliogenesis and centrosome integrity.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported for PCM1.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner by disrupting PCM1 oligomerization and satellite assembly, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ciliogenesis (REACT: R-HSA-5617833)
• Centrosome maturation (REACT: R-HSA-380259)
• Hedgehog signaling (REACT: R-HSA-5358351)
Protein Summary
PCM1 is a 2288-amino acid protein (UniProt Q15154) with a large coiled-coil domain that mediates self-association and interaction with other centriolar satellite components. It localizes to cytoplasmic granules that traffic along microtubules to the centrosome. PCM1 is required for the recruitment of proteins such as CEP290 and OFD1 to the centrosome, which is critical for primary cilium formation. The protein also plays a role in cell cycle progression by ensuring proper centrosome duplication and separation. Post-translational modifications include phosphorylation, which regulates its localization and stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PCM1 Knockout HEK293 Cell Line | EDJ-KQ2932 | Human | 5108 | Details Get a Quote |
| PCM1 Knockout HCT 116 Cell Line | EDJ-KQ24045 | Human | 5108 | Details Get a Quote |
| PCM1 Knockout HeLa Cell Line | EDJ-KQ24046 | Human | 5108 | Details Get a Quote |
| PCM1 Knockout A-549 Cell Line | EDJ-KQ18259 | Human | 5108 | Details Get a Quote |
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