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PCNT pericentrin [ Homo sapiens (human) ]

Gene ID: 5116, updated on 19-Jul-2021

Summary

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Official Symbol
PCNTprovided by HGNC
Official Full Name
pericentrinprovided by HGNC
Primary source
HGNC:HGNC:16068
See related
Ensembl:ENSG00000160299 MIM:605925
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
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Genomic context

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See PCNT in Genome Data Viewer
Location:
21q22.3
Exon count:
51
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (46324122..46445769)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (47744070..47865682)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 1466 Neighboring gene chromosome 21 open reading frame 58 Neighboring gene ybeY metalloendoribonuclease Neighboring gene ribosomal protein L18a pseudogene 2 Neighboring gene DIP2A intronic transcript 1 Neighboring gene disco interacting protein 2 homolog A Neighboring gene RNA, U6 small nuclear 396, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl. Rossi-Espagnet MC, et al. Am J Med Genet A, 2020 Oct. PMID 32744776
  2. Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria. Waich S, et al. Clin Genet, 2020 Sep. PMID 32557621, Free PMC Article
  3. Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation. Abdel-Salam GMH, et al. Am J Med Genet A, 2020 Jun. PMID 32267100
  4. Centrosome amplification is a frequent event in circulating tumor cells from subjects with metastatic breast cancer. Singh A, et al. Mol Oncol, 2020 Aug. PMID 32255253, Free PMC Article
  5. New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report. Aoyama KI, et al. BMC Med Genet, 2019 Jul 16. PMID 31311520, Free PMC Article

See all (117) 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. Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria.
    Title: Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria.
  2. Centrosome amplification is a frequent event in circulating tumor cells from subjects with metastatic breast cancer.
    Title: Centrosome amplification is a frequent event in circulating tumor cells from subjects with metastatic breast cancer.
  3. Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl.
    Title: Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl.
  4. Centriole-independent mitotic spindle assembly relies on the PCNT-CDK5RAP2 pericentriolar matrix.
    Title: Centriole-independent mitotic spindle assembly relies on the PCNT-CDK5RAP2 pericentriolar matrix.
  5. Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
    Title: Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
  6. Deletion of PCNT in HeLa cells had little effect on interphase centrosomes. However, centrioles in PCNT-deleted mitotic cells prematurely separated and frequently amplified, revealing that centrioles are limited within the spindle poles by PCNT during mitosis.
    Title: PCNT is critical for the association and conversion of centrioles to centrosomes during mitosis.
  7. Critical homozygous or compound heterozygous variants in PCNT are a known cause of microcephalic osteodysplastic primordial dwarfism type II accompanied by mandibular hypoplasia, which is similar to the maxillofacial phenotype.
    Title: New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report.
  8. CRISPR/Cas9-mediated knockout of Syne-2 in cell culture led to an overexpression and mislocalization of Pcnt and to ciliogenesis defects. This suggests that the Pcnt-Syne-2 complex is important for ciliogenesis and outer segment formation during retinal development and plays a role in nuclear migration.
    Title: Functional analyses of Pericentrin and Syne-2 interaction in ciliogenesis.
  9. We identified 2 different variants in exon 38 from the PCNT gene shared between affected members from 2 different families with either intracranial aneurysms or subarachnoid hemorrhages
    Title: <i>PCNT</i> point mutations and familial intracranial aneurysms.
  10. Here, the authors show that PCNT is delivered co-translationally to centrosomes during early mitosis by cytoplasmic dynein, as evidenced by centrosomal enrichment of PCNT mRNA, its translation near centrosomes, and requirement of intact polysomes for PCNT mRNA localization.
    Title: Co-translational protein targeting facilitates centrosomal recruitment of PCNT during centrosome maturation in vertebrates.
Submit: New GeneRIF Correction See all GeneRIFs (41)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Microcephalic osteodysplastic primordial dwarfism type II
MedGen: C0432246 OMIM: 210720 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 
Process Evidence Code Pubs
acts_upstream_of_or_within cilium assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in microtubule cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitotic spindle organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of intracellular protein transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
  
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

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

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.

Genomic

  1. NG_008961.2 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001315529.2 → NP_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
    UniProtKB/Swiss-Prot
    O95613
    Related
    ENST00000480896.5
    Conserved Domains (3) summary
    TIGR02168
    Location:1162 → 1839
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam07798
    Location:145 → 276
    DUF1640; Protein of unknown function (DUF1640)
    pfam10495
    Location:2942 → 3019
    PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein

  2. NM_006031.6 → NP_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
    Related
    ENSP00000352572.5, ENST00000359568.10
    Conserved Domains (3) summary
    TIGR02168
    Location:1280 → 1957
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam07798
    Location:263 → 394
    DUF1640; Protein of unknown function (DUF1640)
    pfam10495
    Location:3139 → 3216
    PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    46324122..46445769
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529594.3 → XP_011527896.1  pericentrin isoform X1

    Conserved Domains (3) summary
    TIGR02168
    Location:1307 → 1984
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam07798
    Location:290 → 421
    DUF1640; Protein of unknown function (DUF1640)
    pfam10495
    Location:3166 → 3243
    PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein

  2. XM_005261124.5 → XP_005261181.1  pericentrin isoform X2

    Conserved Domains (4) summary
    COG1196
    Location:870 → 1615
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:246 → 1035
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam07798
    Location:263 → 394
    DUF1640; Protein of unknown function (DUF1640)
    pfam10495
    Location:3150 → 3227
    PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein

  3. XM_017028362.2 → XP_016883851.1  pericentrin isoform X3

  4. XM_024452083.1 → XP_024307851.1  pericentrin isoform X6

    Conserved Domains (4) summary
    pfam10495
    Location:2410 → 2487
    PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein
    cl25602
    Location:17 → 186
    DUF3552; Domain of unknown function (DUF3552)
    cl25732
    Location:130 → 875
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26511
    Location:1805 → 2217
    Neuromodulin_N; Gap junction protein N-terminal region

  5. XM_017028363.1 → XP_016883852.1  pericentrin isoform X4

  6. XM_024452082.1 → XP_024307850.1  pericentrin isoform X5

    Conserved Domains (3) summary
    pfam10495
    Location:2778 → 2855
    PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein
    cl25732
    Location:498 → 1243
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26511
    Location:2173 → 2585
    Neuromodulin_N; Gap junction protein N-terminal region
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95613.4 GenPept UniProtKB/Swiss-Prot:O95613

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