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    PCNT pericentrin [ Homo sapiens (human) ]

    Gene ID: 5116, updated on 24-Mar-2023

    Summary

    Official Symbol
    PCNTprovided by HGNC
    Official Full Name
    pericentrinprovided by HGNC
    Primary source
    HGNC:HGNC:16068
    See related
    Ensembl:ENSG00000160299 MIM:605925; AllianceGenome:HGNC:16068
    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
    KEN; PCN; MOPD2; PCNT2; PCNTB; PCTN2; SCKL4
    Summary
    The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
    Expression
    Broad expression in testis (RPKM 8.6), bone marrow (RPKM 5.3) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PCNT in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (46324156..46445769)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (44709501..44831895)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (47744070..47865682)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene chromosome 21 open reading frame 58 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47737784-47738618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47738619-47739453 Neighboring gene uncharacterized LOC128092249 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47783310-47783810 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47798693-47799473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47805909-47806409 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47823360-47823870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47823871-47824380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47831521-47832096 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47841246-47841752 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47841753-47842259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47842260-47842765 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47846379-47846880 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47846881-47847380 Neighboring gene ribosomal protein L18a pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47863446-47864365 Neighboring gene uncharacterized LOC124905046 Neighboring gene DIP2A intronic transcript 1 Neighboring gene disco interacting protein 2 homolog A

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr-expressing HeLa cells stained with centriole markers pericentrin, gamma-tubulin, and Cen2 contain multiple pairs of centrioles scattered in the perinuclear region, indicating Vpr causes the accumulation of multiple centrosome-like structures PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular adaptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in membrane HDA PubMed 
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    pericentrin
    Names
    kendrin
    pericentrin-2
    pericentrin-380
    pericentrin-B

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008961.2 RefSeqGene

      Range
      5035..126648
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001315529.2NP_001302458.1  pericentrin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform 1.
      Source sequence(s)
      AB007862, AF515282, AP000471, AP001477, AW452809
      Consensus CDS
      CCDS93109.1
      UniProtKB/Swiss-Prot
      O95613
      Related
      ENSP00000511989.1, ENST00000480896.5
      Conserved Domains (3) summary
      TIGR02168
      Location:11621839
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam07798
      Location:145276
      DUF1640; Protein of unknown function (DUF1640)
      pfam10495
      Location:29423019
      PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein
    2. NM_006031.6NP_006022.3  pericentrin isoform 1

      See identical proteins and their annotated locations for NP_006022.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB007862, AF515282, AW452809, BP311784, BP312870, DC345793
      Consensus CDS
      CCDS33592.1
      UniProtKB/Swiss-Prot
      O95613, Q7Z7C9
      Related
      ENSP00000352572.5, ENST00000359568.10
      Conserved Domains (3) summary
      TIGR02168
      Location:12801957
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam07798
      Location:263394
      DUF1640; Protein of unknown function (DUF1640)
      pfam10495
      Location:31393216
      PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      46324156..46445769
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      44709501..44831895
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)