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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PCM1
pericentriolar material 1
Chromosome 8 · 8p22
NCBI Gene: 5108Ensembl: ENSG00000078674.20HGNC: HGNC:8727UniProt: A0A4W8VX11
208PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Oncogene
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
non-motile ciliumcytoplasmic microtubule organizationprotein localization to centrosomecentrosometype 2 diabetes mellitusatrial fibrillationHodgkins lymphomathyroid gland oncocytic adenoma
✦AI Summary

PCM1 (pericentriolar material 1) is a scaffolding protein essential for centrosome assembly and function 1. It nucleates centriolar satellites, membrane-less organelles surrounding centrosomes, and is required for proper localization of centrosomal proteins and microtubule anchoring to the centrosome 2. PCM1 facilitates cilium biogenesis by recruiting the BBSome complex and tubulin polyglutamylase complex to centriolar satellites, enabling efficient protein trafficking to centrioles 2. During spermatogenesis, PCM1 governs precise translocation of centrosomal proteins via intra-manchette transport, ensuring proper centrosome remodeling and flagellogenesis; PCM1 downregulation is associated with non-obstructive azoospermia, and Pcm1 knockout mice exhibit male infertility with defective sperm maturation 3. In somatic cells, PCM1 is degraded via chaperone-mediated autophagy to maintain centrosome homeostasis; DNAJA2-deficient tumors with elevated PCM1 exhibit aberrant mitosis and chromosome 8 that activates the cGAS-STING pathway 4. PCM1 deficiency in some cell types impairs early ciliogenesis through reduced mother centriole docking and CP110 removal, causing hydrocephalus and oligospermia in mice 2. Clinically, PCM1-JAK2 fusion represents a recognized genetic alteration in myeloid/lymphoid neoplasms with eosinophilia, which can be targeted therapeutically 56.

Sources cited
1
PCM1 is the molecular marker and scaffolding protein of centriolar satellites with roles in centrosome function and developmental/neurodegenerative disorders
PMID: 38825736
2
PCM1 nucleates centriolar satellites and facilitates protein trafficking to centrioles; Pcm1-/- mice show cilium assembly defects, hydrocephalus, and oligospermia
PMID: 36790165
3
PCM1 governs centrosomal protein translocation during spermatogenesis; PCM1 downregulation is associated with non-obstructive azoospermia and male infertility
PMID: 40481240
4
PCM1 is degraded via chaperone-mediated autophagy for centrosome homeostasis; elevated PCM1 causes aberrant mitosis and chromosome instability
PMID: 37640708
5
PCM1-JAK2 fusion is recognized as a formal member of myeloid/lymphoid neoplasms with tyrosine kinase gene fusions
PMID: 37283522
6
PCM1-JAK2 rearrangement is a major diagnostic category in primary eosinophilias with distinct prognostic and therapeutic implications
PMID: 34533850
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.46Moderate
atrial fibrillationOpen Targets
0.41Moderate
Hodgkins lymphomaOpen Targets
0.37Weak
thyroid gland oncocytic adenomaOpen Targets
0.37Weak
Thyroid Gland Oncocytic Follicular CarcinomaOpen Targets
0.37Weak
breast carcinomaOpen Targets
0.34Weak
smoking initiationOpen Targets
0.31Weak
diabetes mellitusOpen Targets
0.31Weak
papillary thyroid carcinomaOpen Targets
0.31Weak
acute myeloid leukemiaOpen Targets
0.28Weak
Chronic Eosinophilic Leukemia, Not Otherwise SpecifiedOpen Targets
0.28Weak
chronic myelogenous leukemiaOpen Targets
0.28Weak
B-cell acute lymphoblastic leukemiaOpen Targets
0.28Weak
Poorly Differentiated Thyroid Gland CarcinomaOpen Targets
0.28Weak
CachexiaOpen Targets
0.27Weak
nicotine dependenceOpen Targets
0.20Weak
hepatocellular carcinomaOpen Targets
0.20Weak
urinary bladder carcinomaOpen Targets
0.19Weak
atrial flutterOpen Targets
0.19Weak
osteosarcomaOpen Targets
0.19Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HAUS6Protein interaction100%HAUS1Protein interaction100%BBIP1Protein interaction100%HAUS2Protein interaction100%RAB3IPProtein interaction93%CEP72Protein interaction91%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
89%
Brain
84%
Ovary
77%
Lung
55%
Liver
50%
Gene Interaction Network
Click a node to explore
PCM1HAUS6HAUS1BBIP1HAUS2RAB3IPCEP72
PROTEIN STRUCTURE
Preparing viewer…
PDB6HYL · 1.56 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.70LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.57 [0.47–0.70]
RankingsWhere PCM1 stands among ~20K protein-coding genes
  • #2,011of 20,598
    Most Researched208 · top 10%
  • #5,326of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedPCM1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
The international consensus classification of eosinophilic disorders and systemic mastocytosis.
PMID: 37283522
Am J Hematol · 2023
1.00
2
World Health Organization-defined eosinophilic disorders: 2022 update on diagnosis, risk stratification, and management.
PMID: 34533850
Am J Hematol · 2022
0.90
3
No association between the PCM1 gene and schizophrenia: a multi-center case-control study and a meta-analysis.
PMID: 21481569
Schizophr Res · 2011
0.80
4
Updates on eosinophilic disorders.
PMID: 36068374
Virchows Arch · 2023
0.72
5
DNAJA2 deficiency activates cGAS-STING pathway via the induction of aberrant mitosis and chromosome instability.
PMID: 37640708
Nat Commun · 2023
0.70