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    Pcnt pericentrin [ Rattus norvegicus (Norway rat) ]

    Gene ID: 309692, updated on 13-Apr-2024

    Summary

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    Official Symbol
    Pcntprovided by RGD
    Official Full Name
    pericentrinprovided by RGD
    Primary source
    RGD:1595865
    See related
    Ensembl:ENSRNOG00000001276 AllianceGenome:RGD:1595865
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable molecular adaptor activity. Predicted to be involved in microtubule cytoskeleton organization and positive regulation of intracellular protein transport. Predicted to act upstream of or within several processes, including animal organ development; mitotic spindle organization; and neuron migration. Predicted to be located in several cellular components, including cis-Golgi network; intercellular bridge; and microtubule organizing center. Human ortholog(s) of this gene implicated in microcephalic osteodysplastic primordial dwarfism type II. Orthologous to human PCNT (pericentrin). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in Muscle (RPKM 102.2), Heart (RPKM 83.2) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    Location:
    20p12
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 20 NC_086038.1 (12189767..12278179)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 20 NC_051355.1 (12190597..12278723)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 20 NC_005119.4 (12943523..13038615)

    Chromosome 20 - NC_086038.1Genomic Context describing neighboring genes Neighboring gene minichromosome maintenance complex component 3 associated protein Neighboring gene similar to human chromosome 21 open reading frame 58 Neighboring gene ybeY metalloendoribonuclease Neighboring gene uncharacterized LOC134483886 Neighboring gene disco-interacting protein 2 homolog A Neighboring gene uncharacterized LOC134483887 Neighboring gene U6 spliceosomal RNA Neighboring gene S100 calcium binding protein B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Pericentrin expression in Down's syndrome. Salemi M, et al. Neurol Sci, 2013 Nov. PMID 23979692
    2. The smallest teeth in the world are caused by mutations in the PCNT gene. Kantaputra P, et al. Am J Med Genet A, 2011 Jun. PMID 21567919
    3. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. Willems M, et al. J Med Genet, 2010 Dec. PMID 19643772
    4. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Rauch A, et al. Science, 2008 Feb 8. PMID 18174396
    5. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Griffith E, et al. Nat Genet, 2008 Feb. PMID 18157127, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables molecular adaptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within brain morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within camera-type eye development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within cerebellar cortex morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within embryonic brain development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within embryonic heart tube development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within head development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within in utero embryonic development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within kidney development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within limb morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in microtubule cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within mitotic spindle organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitotic spindle organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within multicellular organism growth ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within neural precursor cell proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within neuron migration ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within olfactory bulb development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of intracellular protein transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within spindle organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within vasculature development ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in centriolar satellite ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centriole ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cis-Golgi network ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intercellular bridge ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in microtubule organizing center ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in motile cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in pericentriolar material ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    pericentrin

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001427002.1 → NP_001413931.1  pericentrin

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000020

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086038.1 Reference GRCr8

      Range
      12189767..12278179
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039099203.2 → XP_038955131.1  pericentrin isoform X1

      UniProtKB/TrEMBL
      D3ZMY8
      Conserved Domains (4) summary
      PTZ00121
      Location:154 → 858
      PTZ00121; MAEBL; Provisional
      COG1196
      Location:1310 → 1561
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:1043 → 1434
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam10495
      Location:2754 → 2832
      PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein

    2. XM_039099208.2 → XP_038955136.1  pericentrin isoform X8

      UniProtKB/TrEMBL
      D3ZMY8
      Conserved Domains (4) summary
      PTZ00121
      Location:154 → 858
      PTZ00121; MAEBL; Provisional
      COG1196
      Location:1310 → 1561
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:1043 → 1434
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam10495
      Location:2714 → 2792
      PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein

    3. XM_039099209.2 → XP_038955137.1  pericentrin isoform X10

      UniProtKB/TrEMBL
      D3ZMY8
      Conserved Domains (4) summary
      PTZ00121
      Location:154 → 858
      PTZ00121; MAEBL; Provisional
      COG1196
      Location:2137 → 2479
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:1043 → 1434
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam10495
      Location:2677 → 2755
      PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein

    4. XM_063279161.1 → XP_063135231.1  pericentrin isoform X13

    5. XM_017601880.3 → XP_017457369.1  pericentrin isoform X6

      UniProtKB/TrEMBL
      D3ZMY8

    6. XM_063279159.1 → XP_063135229.1  pericentrin isoform X9

    7. XM_039099210.2 → XP_038955138.1  pericentrin isoform X11

      UniProtKB/TrEMBL
      D3ZMY8
      Related
      ENSRNOP00000039329.5
      Conserved Domains (4) summary
      PTZ00121
      Location:154 → 858
      PTZ00121; MAEBL; Provisional
      COG1196
      Location:2137 → 2461
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:1043 → 1434
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam10495
      Location:2659 → 2737
      PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein

    8. XM_063279162.1 → XP_063135232.1  pericentrin isoform X14

    9. XM_039099205.2 → XP_038955133.1  pericentrin isoform X3

      UniProtKB/TrEMBL
      D3ZMY8
      Conserved Domains (4) summary
      PTZ00121
      Location:154 → 858
      PTZ00121; MAEBL; Provisional
      COG1196
      Location:1316 → 1554
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:1043 → 1427
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam10495
      Location:2747 → 2825
      PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein

    10. XM_039099206.2 → XP_038955134.1  pericentrin isoform X4

      UniProtKB/TrEMBL
      D3ZMY8
      Conserved Domains (4) summary
      PTZ00121
      Location:154 → 858
      PTZ00121; MAEBL; Provisional
      COG1196
      Location:1299 → 1550
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:1043 → 1423
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam10495
      Location:2743 → 2821
      PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein

    11. XM_006256312.5 → XP_006256374.1  pericentrin isoform X18

      See identical proteins and their annotated locations for XP_006256374.1

      UniProtKB/TrEMBL
      D3ZMY8
      Related
      ENSRNOP00000095505.1
      Conserved Domains (7) summary
      TIGR02168
      Location:462 → 1423
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam07106
      Location:1297 → 1405
      TBPIP; Tat binding protein 1(TBP-1)-interacting protein (TBPIP)
      pfam09455
      Location:1050 → 1217
      Cas_DxTHG; CRISPR-associated (Cas) DxTHG family
      pfam10495
      Location:2725 → 2803
      PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein
      pfam12474
      Location:156 → 310
      PKK; Polo kinase kinase
      cd16269
      Location:311 → 321
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:198 → 345
      GBP_C; Guanylate-binding protein, C-terminal domain

    12. XM_063279160.1 → XP_063135230.1  pericentrin isoform X12

    13. XM_039099204.2 → XP_038955132.1  pericentrin isoform X2

      UniProtKB/TrEMBL
      D3ZMY8
      Conserved Domains (3) summary
      COG1196
      Location:158 → 533
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:462 → 1433
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam10495
      Location:2753 → 2831
      PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein

    14. XM_039099207.2 → XP_038955135.1  pericentrin isoform X5

      UniProtKB/TrEMBL
      D3ZMY8
      Conserved Domains (3) summary
      COG1196
      Location:158 → 533
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:462 → 1422
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam10495
      Location:2742 → 2820
      PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein

    15. XM_002728936.6 → XP_002728982.2  pericentrin isoform X17

      See identical proteins and their annotated locations for XP_002728982.2

      UniProtKB/TrEMBL
      D3ZMY8
      Conserved Domains (7) summary
      TIGR02168
      Location:462 → 1422
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam07106
      Location:1296 → 1404
      TBPIP; Tat binding protein 1(TBP-1)-interacting protein (TBPIP)
      pfam09455
      Location:1049 → 1216
      Cas_DxTHG; CRISPR-associated (Cas) DxTHG family
      pfam10495
      Location:2647 → 2725
      PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein
      pfam12474
      Location:156 → 310
      PKK; Polo kinase kinase
      cd16269
      Location:311 → 321
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:198 → 345
      GBP_C; Guanylate-binding protein, C-terminal domain

    16. XM_063279158.1 → XP_063135228.1  pericentrin isoform X7

    17. XM_063279163.1 → XP_063135233.1  pericentrin isoform X15

    18. XM_039099211.2 → XP_038955139.1  pericentrin isoform X16

      Conserved Domains (3) summary
      COG0419
      Location:108 → 645
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      TIGR02168
      Location:1391 → 1643
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam10495
      Location:1835 → 1913
      PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein
    Nucleotide Protein Strain
    Heading Accession and Version

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