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FLASH GENE
Symbol PCM1 contributors: mct/pgu - updated : 22-12-2011
HGNC name pericentriolar material 1
HGNC id 8727
Location 8p22      Physical location : 17.780.365 - 17.887.455
Synonym name pericentrin
Synonym symbol(s) PTC4, PCM-1
DNA
TYPE functioning gene
SPECIAL FEATURE head to head
STRUCTURE 107.09 kb     39 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence
motif
MAPPING cloned Y linked N status provisional
Map pter - D8S639 - D8S294E - PCM1 - D8S1341E - D8S1365E - cen
Physical map
N33 8p22 RNA, U3 small nucleolar pseudogene 2 LOC137012 8p22 protein phosphatase 1A pseudogene LOC392202 8 similar to 60S ribosomal protein L32 MSR1 8p22 macrophage scavenger receptor 1 LOC392203 8 similar to matricin MRPL49P2 8p22 similar to matricin FGF20 8p22-p21.3 fibroblast growth factor 20 LOC286097 8p22 hypothetical protein LOC286097 ZDHHC2 8p21.3-p22 zinc finger, DHHC domain containing 2 CNOT7 8p22-p21.3 CCR4-NOT transcription complex, subunit 7 FLJ32642 8p22 hepatocellular carcinoma related protein 1 MTMR7 8p22 myotubularin related protein 7 LOC392204 8 similar to ADAM 25 precursor (A disintegrin and metalloproteinase domain 25) (Testase 2) SLC7A2 8p22-p21.3 solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 PDGFRL 8p22-p21.3 platelet-derived growth factor receptor-like MTSG1 8p22 mitochondrial tumor suppressor gene 1 LOC389636 8 LOC389636 FGL1 8p22-p21.3 fibrinogen-like 1 PCM1 8p22-p21.3 pericentriolar material 1 ASAH1 8p22-p21.3 N-acylsphingosine amidohydrolase (acid ceramidase) 1 MRPS18CP3 8p21.3 mitochondrial ribosomal protein S18C pseudogene 3 UNQ9391 8p23.1 tryptophan/serine protease NAT1 8p22 N-acetyltransferase 1 (arylamine N-acetyltransferase) LOC392205 8 similar to acetyltransferase LOC392206 8 similar to ribosomal protein L10a NAT2 8p22 N-acetyltransferase 2 (arylamine N-acetyltransferase) DKFZp761K1423 8p22 hypothetical protein DKFZp761K1423 EFA6R 8pter-p23.3 hypothetical protein DKFZp761K1423 LOC389637 8 LOC389637 LOC389638 8 LOC389638 LOC392207 8 similar to PMCA2av FLJ20967 8p21.2 hypothetical protein FLJ20967 ChGn 8p21.3 chondroitin beta1,4 N-acetylgalactosaminyltransferase FLJ10569 8p21.3 hypothetical protein FLJ10569 LPL 8p22 lipoprotein lipase SLC18A1 8p21.3 solute carrier family 18 (vesicular monoamine), member 1 ATP6V1B2 8p22 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2 LZTS1 8p22 leucine zipper, putative tumor suppressor 1 RNU3P2 8p21.3 RNA, U3 small nucleolar pseudogene 2
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
39 - 8788 228.4 2024 - 2000 10980597
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen    
Cardiovascularheart   highly
Digestiveliver    
Endocrinepancreas    
Nervousbrain   highly
Reproductivemale systemtestis  highly
Respiratoryrespiratory tracttrachea  highly
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousglia
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to murine Pcm1
Homologene
FAMILY
  • PCM1 family
    • CATEGORY antigen
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nuclear envelope
    text
  • centrosomal localization of PCM1 in glia but not in neurons
  • co-localizes with GRK5, TUBG1, and CETN1 in centrosomes
    • basic FUNCTION
  • involved in recruiting proteins necessary for centrosome replication
  • participating in the biogenesis, function and maintenance of both centrosomes and cilia
  • plays a role in the recruitment of centrosomal proteins including centrin, pericentrin and ninein, and required for the organization of the cytoplasmic microtubule network
  • involved in the regulation of a membrane-trafficking pathway mediated by RAB8A, which may be coordinated with the assembly of the ciliary axoneme
  • microtubule assembly is PCM1 dependent, and the presence of PCM1 at the centrosome contributes to its role as the main microtubule-organizing centre
  • HOOK3 interacts with PCM1 to regulate pericentriolar material assembly and the timing of neurogenesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • binding to centrosome in a dynamic cell cycle-dependent manner
  • complexing with BBS4 and colocalizing to the centriolar satellites of centrosomes
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with BBS4
  • interacting with CEP290 (both CEP290 and PCM1 are required for ciliogenesis and are involved in the ciliary targeting of RAB8, a small GTPase shown to collaborate with BBS protein complex to promote ciliogenesis)
  • interaction between HOOK3 and PCM1 required by trafficking of pericentriolar satellites
  • interact directly with the disrupted-in-schizophrenia 1 (DISC1) protein, Bardet-Biedl syndrome 4, and Huntingtin-associated protein 1, and is important in neuronal cell growth
  • HOOK2 interacts with and stabilizes pericentriolar material protein 1 (PCM1), which was reported to be essential for the recruitment of RAB8A, a GTPase that is believed to be crucial for membrane transport to the primary cilium
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    t(8;9)(p22;p24), in in atypical chronic myeloid leukaemia with a PCM1-JAK2 fusion
    tumoral fusion      
    fusion with RET in papillary thyroid carcinoma
    tumoral   LOH    
    in hepatocellular carcinoma, colorectal and non-small-cell lung cancers
    tumoral     --low  
    in primary ovarian carcinoma compared with controls (ovarian tissues and cysts)
    Susceptibility to schizophrenia
    Variant & Polymorphism SNP , other
  • rs37042, a threonine to isoleucine missense mutation is strongly associated with schizophrenia
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS