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    PCM1 pericentriolar material 1 [ Homo sapiens ]

    Gene ID: 5108, updated on 11-May-2012
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    Summary

    Official Symbol
    PCM1provided by HGNC
    Official Full Name
    pericentriolar material 1provided by HGNC
    Primary source
    HGNC:8727
    See related
    Ensembl:ENSG00000078674; HPRD:02624; MIM:600299; Vega:OTTHUMG00000163699
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PTC4
    Summary
    The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins, and for anchoring microtubules to the centrosome. Chromosomal aberrations involving this gene are associated with papillary thyroid carcinomas and a variety of hematological malignancies, including atypical chronic myeloid leukemia and T-cell lymphoma. [provided by RefSeq, Sep 2010]
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    Genomic context

    Location :
    8p22-p21.3
    Sequence :
    Chromosome: 8; NC_000008.10 (17780366..17887457)
    See PCM1 in Epigenomics, MapViewer

    Chromosome 8 - NC_000008.10Genomic Context describing neighboring genes Neighboring gene microtubule associated tumor suppressor 1 Neighboring gene microRNA 548v Neighboring gene fibrinogen-like 1 Neighboring gene mitochondrial ribosomal protein S18C pseudogene 3 Neighboring gene N-acylsphingosine amidohydrolase (acid ceramidase) 1

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Activity-based chemical proteomics accelerates inhibitor development for deubiquitylating enzymes. Altun M, et al. Chem Biol, 2011 Nov 23. PMID 22118674.
    2. NEK7 is essential for centriole duplication and centrosomal accumulation of pericentriolar material proteins in interphase cells. Kim S, et al. J Cell Sci, 2011 Nov 15. PMID 22100915.
    3. Hook2 is involved in the morphogenesis of the primary cilium. Baron Gaillard CL, et al. Mol Biol Cell, 2011 Dec. PMID 21998199.
    4. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    5. Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease. Keryer G, et al. J Clin Invest, 2011 Nov. PMID 21985783.

    See all (63) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. PCM1 interacts with Hook2 in a complex that regulates a limiting step required for further initiation of ciliogenesis after centriole maturation.
      Title: Hook2 is involved in the morphogenesis of the primary cilium.
    2. NEK7 is essential for PCM accumulation in a cell cycle stage-specific manner.
      Title: NEK7 is essential for centriole duplication and centrosomal accumulation of pericentriolar material proteins in interphase cells.
    3. WT HTT regulates ciliogenesis by interacting through huntingtin-associated protein 1 (HAP1) with pericentriolar material 1 protein (PCM1).
      Title: Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease.
    4. The data failed to find a significant association between SNPs or haplotypes of the PCM1 gene and schizophrenia in the Japanese population (P>0.28).
      Title: No association between the PCM1 gene and schizophrenia: a multi-center case-control study and a meta-analysis.
    5. These data provide further evidence that PCM1-though certainly not a major risk factor in the Northern Swedish population-cannot be ruled out as a contributor to schizophrenia risk and/or protection.
      Title: PCM1 and schizophrenia: a replication study in the Northern Swedish population.
    6. DISC1 coding variants modulate centrosomal PCM1 localization, highlight a role for DISC1 in glial function and provide a possible cellular mechanism contributing to the association of these DISC1 variants with psychiatric phenotypes.
      Title: The DISC1 Ser704Cys substitution affects centrosomal localization of its binding partner PCM1 in glia in human brain.
    7. Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
      Title: PCM1 and schizophrenia: a replication study in the Northern Swedish population.
    8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    9. Hook3- and PCM1-mediated dynamic assembly of pericentriolar material is essential for interkinetic nuclear migration.
      Title: Hook3 interacts with PCM1 to regulate pericentriolar material assembly and the timing of neurogenesis.
    10. decreased colocalization of DISC1 and its binding partner PCM1 after Phe607 DISC1 transfection
      Title: DISC-1 Leu607Phe alleles differentially affect centrosomal PCM1 localization and neurotransmitter release.
    Submit: New GeneRIF Correction See all (18)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Thyroid carcinoma, papillary

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q15154 Q9NYB9 ABI2    HPRD  PubMed  
    Q15154 Q96RK4 BBS4    HPRD  PubMed  
    Q15154 Q9Y3C0 CCDC53    HPRD  PubMed  
    Q15154 Q9P209 CEP72    HPRD  PubMed  
    Q15154 Q12929 EPS8    HPRD  PubMed  
    Q15154 Q8IYI6 EXOC8    HPRD  PubMed  
    Q15154 P54257 HAP1    HPRD  PubMed  
    Q15154 Q8WYH8 ING5    HPRD  PubMed  
    Q15154 KIAA0368 KIAA0368    HPRD  PubMed  
    Q15154 P19012 KRT15    HPRD  PubMed  
    Q15154 P08727 KRT19    HPRD  PubMed  
    Q15154 O95613 PCNT    HPRD  PubMed  
    Q15154 Q8TAM2 TTC8    HPRD  PubMed  
    BioGRID:111139 BioGRID:115454 ABI2    BioGRID  PubMed Two-hybrid 
    BioGRID:111139 BioGRID:116641 AZI1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111139 BioGRID:198290 Azi1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111139 BioGRID:107060 BBS4    BioGRID  PubMed Two-hybrid 
    BioGRID:111139 BioGRID:119225 CCDC53    BioGRID  PubMed Two-hybrid 
    BioGRID:111139 BioGRID:120844 CEP72    BioGRID  PubMed Two-hybrid 
    BioGRID:111139 BioGRID:107623 CLTC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111139 BioGRID:244244 Cep170    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111139 BioGRID:108373 EPS8    BioGRID  PubMed Two-hybrid 
    BioGRID:111139 BioGRID:108431 EWSR1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111139 BioGRID:127206 EXOC8    BioGRID  PubMed Two-hybrid 
    BioGRID:111139 BioGRID:108797 FUS    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111139 BioGRID:114480 HAP1    BioGRID  PubMed Two-hybrid 
    BioGRID:111139 BioGRID:116281 HNRNPUL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111139 BioGRID:230424 Haus1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111139 BioGRID:230105 Haus4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111139 BioGRID:124016 ING5    BioGRID  PubMed Two-hybrid 
    BioGRID:111139 BioGRID:116966 KIAA0368    BioGRID  PubMed Two-hybrid 
    BioGRID:111139 BioGRID:110064 KRT15    BioGRID  PubMed Two-hybrid 
    BioGRID:111139 BioGRID:110078 KRT19    BioGRID  PubMed Two-hybrid 
    BioGRID:111139 BioGRID:121593 MIB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111139 BioGRID:211904 Ndc80    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111139 BioGRID:111146 PCNT    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111139 BioGRID:111475 PPIB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111139 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111139 BioGRID:116168 YWHAQ    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    G2/M transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
    		  
    cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    centrosome organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    interkinetic nuclear migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    microtubule anchoring ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    mitotic cell cycle TAS
    Traceable Author Statement
    more info
    		  
    negative regulation of neurogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    protein localization to centrosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    centrosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    NOT nonmotile primary cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    pericentriolar material ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
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    General protein information

    Preferred Names
    pericentriolar material 1 protein
    Names
    pericentriolar material 1 protein
    PCM-1
    hPCM-1
    pericentriolar material 1, PCM1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_027690.1 RefSeqGene

      Range
      5001..112092
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006197.3 → NP_006188.3  pericentriolar material 1 protein

      Status: REVIEWED

      Source sequence(s)
      AC087273, AC087625, AW237120, BC133052, L27841
      Consensus CDS
      CCDS47812.1
      UniProtKB/TrEMBL
      A2RUU9
      UniProtKB/Swiss-Prot
      Q15154
      Related
      ENSP00000327077, OTTHUMP00000224566, ENST00000325083, OTTHUMT00000374793

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000008.10 Reference GRCh37.p5 Primary Assembly

      Range
      17780366..17887457
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000140.1 Alternate HuRef

      Range
      16324235..16431242
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC087273.5 None
    genomic AC087625.12 (62456..147524) None
    genomic CH471080.2 EAW63796.1
      EAW63797.1
      EAW63798.1
    mRNA AA931266.1 None
    mRNA AF068293.1 AAF65182.1
    mRNA AI810388.1 None
    mRNA AI924817.1 None
    mRNA AK091406.1 BAC03656.1
    mRNA AK295856.1 BAG58662.1
    mRNA AK301727.1 BAG63193.1
    mRNA AK302378.1 BAG63697.1
    mRNA AK307583.1 None
    mRNA AL705025.1 None
    mRNA AL712077.1 None
    mRNA AW080255.1 None
    mRNA AW237120.1 None
    mRNA AW501568.1 None
    mRNA AX785390.1 CAE11958.1
    mRNA BC000453.2 AAH00453.1
    mRNA BC027477.1 AAH27477.1
    mRNA BC065022.1 AAH65022.1
    mRNA BC133052.1 AAI33053.1
    mRNA BC140946.1 AAI40947.1
    mRNA BF994051.1 None
    mRNA BG898673.1 None
    mRNA BI966701.1 None
    mRNA BQ879089.1 None
    mRNA BU166050.1 None
    mRNA CB157569.1 None
    mRNA CD704264.1 None
    mRNA L27841.1 AAA60120.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15154.4 GenPept UniProtKB/Swiss-Prot:Q15154
    Q9P1R8 GenPept UniProtKB/TrEMBL:Q9P1R8
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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