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PCNT pericentrin [ Homo sapiens (human) ]

Gene ID: 5116, updated on 6-Nov-2022

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; 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
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Genomic context

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See PCNT in Genome Data Viewer
Location:
21q22.3
Exon count:
53
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (46324156..46445769)
110 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 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 uncharacterized LOC124905046 Neighboring gene DIP2A intronic transcript 1 Neighboring gene disco interacting protein 2 homolog A

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 Duker A, et al. , 1993. PMID 34978779
  2. Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II. Nguyen TH, et al. Genes Genomics, 2021 Feb. PMID 33460028
  3. 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
  4. Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria. Waich S, et al. Clin Genet, 2020 Sep. PMID 32557621, Free PMC Article
  5. 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

See all (128) 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. Triple deletion of TP53, PCNT, and CEP215 promotes centriole amplification in the M phase.
    Title: Triple deletion of <i>TP53, PCNT</i>, and <i>CEP215</i> promotes centriole amplification in the M phase.
  2. Coding variants in the PCNT and CEP295 genes contribute to breast cancer risk in Chinese women.
    Title: Coding variants in the PCNT and CEP295 genes contribute to breast cancer risk in Chinese women.
  3. Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II.
    Title: Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II.
  4. Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria.
    Title: Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (44)

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

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
    Consensus CDS
    CCDS93109.1
    UniProtKB/Swiss-Prot
    O95613
    Related
    ENSP00000511989.1, 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, Q7Z7C9
    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 Annotation Release 110 details...Open this link in a new tab

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)

mRNA and Protein(s)

  1. XM_011529594.4 → 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_047440809.1 → XP_047296765.1  pericentrin isoform X14

  3. XM_047440807.1 → XP_047296763.1  pericentrin isoform X12

  4. XM_047440816.1 → XP_047296772.1  pericentrin isoform X22

  5. XM_047440800.1 → XP_047296756.1  pericentrin isoform X5

  6. XM_047440813.1 → XP_047296769.1  pericentrin isoform X19

  7. XM_047440798.1 → XP_047296754.1  pericentrin isoform X2

  8. XM_047440808.1 → XP_047296764.1  pericentrin isoform X13

  9. XM_047440801.1 → XP_047296757.1  pericentrin isoform X6

  10. XM_047440802.1 → XP_047296758.1  pericentrin isoform X7

  11. XM_047440814.1 → XP_047296770.1  pericentrin isoform X20

  12. XM_047440803.1 → XP_047296759.1  pericentrin isoform X8

  13. XM_005261124.6 → XP_005261181.1  pericentrin isoform X3

    UniProtKB/TrEMBL
    A0A8Q3SHZ3
    Related
    ENSP00000512015.1, ENST00000695558.1
    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

  14. XM_047440811.1 → XP_047296767.1  pericentrin isoform X17

  15. XM_017028362.3 → XP_016883851.1  pericentrin isoform X15

  16. XM_047440804.1 → XP_047296760.1  pericentrin isoform X9

  17. XM_047440818.1 → XP_047296774.1  pericentrin isoform X24

  18. XM_047440799.1 → XP_047296755.1  pericentrin isoform X4

  19. XM_047440812.1 → XP_047296768.1  pericentrin isoform X18

  20. XM_047440810.1 → XP_047296766.1  pericentrin isoform X16

  21. XM_047440817.1 → XP_047296773.1  pericentrin isoform X23

  22. XM_047440815.1 → XP_047296771.1  pericentrin isoform X21

  23. XM_047440805.1 → XP_047296761.1  pericentrin isoform X10

  24. XM_047440806.1 → XP_047296762.1  pericentrin isoform X11

  25. XM_024452082.2 → XP_024307850.1  pericentrin isoform X25

    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

  26. XM_047440819.1 → XP_047296775.1  pericentrin isoform X26

  27. XM_047440820.1 → XP_047296776.1  pericentrin isoform X26

  28. XM_047440821.1 → XP_047296777.1  pericentrin isoform X27

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    44709501..44831895
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95613.4 GenPept UniProtKB/Swiss-Prot:O95613

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