PCNT pericentrin [Homo sapiens (human)] - Gene

Summary

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: mouse all

Genomic context

Location:: 21q22.3

Exon count:: 51

Annotation release	Status	Assembly	Chr	Location
109.20190607	current	GRCh38.p13 (GCF_000001405.39)	21	NC_000021.9 (46324122..46445769)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (47743976..47865682)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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.
We also find that Cep57 binds to the well-conserved PACT domain of pericentrin.
Title: The Cep57-pericentrin module organizes PCM expansion and centriole engagement.
High pericentrin expression is associated with Disruptive Cilia Formation in down syndrome.
Title: Trisomy 21 Represses Cilia Formation and Function.
we identified two novel mutations in the PCNT gene associated with Microcephalic osteodysplastic primordial dwarfism type II and intracranial aneurysms
Title: Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms.
PCNT has to be phosphorylated by PLK1 to be a suitable substrate of separase.
Title: PLK1 regulation of PCNT cleavage ensures fidelity of centriole separation during mitotic exit.
Cep68 degradation allows Cep215 removal from peripheral pericentriolar material (PCM) preventing centriole separation following disengagement, PCNT cleavage mediates Cep215 removal from core of the PCM to inhibit centriole disengagement and duplication
Title: Degradation of Cep68 and PCNT cleavage mediate Cep215 removal from the PCM to allow centriole separation, disengagement and licensing.
The CEP215-pericentrin interaction is required for centrosome maturation and subsequent bipolar spindle formation during mitosis.
Title: Importance of the CEP215-pericentrin interaction for centrosome maturation during mitosis.
Data suggest that changes in the expression levels of PCNT in DS subjects may be involved into the molecular mechanism of Down's syndrome.
Title: Pericentrin expression in Down's syndrome.
PCNT gene mutation is associated with hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II.
Title: Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis.
Che-1 depletion abolishes the ability of Chk1 to bind pericentrin and to localize at centrosomes, which, in its turn, deregulates the activation of centrosomal cyclin B-Cdk1 and advances entry into mitosis.
Title: Centrosomal Che-1 protein is involved in the regulation of mitosis and DNA damage response by mediating pericentrin (PCNT)-dependent Chk1 protein localization.

Submit: New GeneRIF Correction See all GeneRIFs (32)

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 2 MedGen: C0432246 OMIM: 210720 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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 BioSystems

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AURKA Activation by TPX2, organism-specific biosystem (from REACTOME)
AURKA Activation by TPX2, organism-specific biosystemTPX2 binds to aurora kinase A (AURKA) at centrosomes and promotes its activation by facilitating AURKA active conformation and autophosphorylation of the AURKA threonine residue T288 (Bayliss et al. ...
Anchoring of the basal body to the plasma membrane, organism-specific biosystem (from REACTOME)
Anchoring of the basal body to the plasma membrane, organism-specific biosystemCilium biogenesis is initiated by the docking of basal bodies, a centriole-derived organelle, to the plasma membrane (reviewed in Reiter et al, 2012). The centriole consists of a multiprotein core su...
Cell Cycle, organism-specific biosystem (from REACTOME)
Cell Cycle, organism-specific biosystem
Cell Cycle
Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
Centrosome maturation, organism-specific biosystem (from REACTOME)
Centrosome maturation, organism-specific biosystemThe centrosome is the primary microtubule organizing center (MTOC) in vertebrate cells and plays an important role in orchestrating the formation of the mitotic spindle. Centrosome maturation is an ...
Cilium Assembly, organism-specific biosystem (from REACTOME)
Cilium Assembly, organism-specific biosystemCilia are membrane covered organelles that extend from the surface of eukaryotic cells. Cilia may be motile, such as respiratory cilia) or non-motile (such as the primary cilium) and are distinguishe...
G2/M Transition, organism-specific biosystem (from REACTOME)
G2/M Transition, organism-specific biosystemCyclin A can also form complexes with Cdc2 (Cdk1). Together with three B-type cyclins, Cdc2 (Cdk1) regulates the transition from G2 into mitosis. These complexes are activated by dephosphorylation of...
Loss of Nlp from mitotic centrosomes, organism-specific biosystem (from REACTOME)
Loss of Nlp from mitotic centrosomes, organism-specific biosystemDuring interphase, Nlp interacts with gamma-tubulin ring complexes (gamma-TuRC), and is thought to contribute to the organization of interphase microtubules (Casenghi et al.,2003). Plk1 is activated...
Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystem (from REACTOME)
Loss of proteins required for interphase microtubule organization from the centrosome, organism-specific biosystemIn addition to recruiting proteins and complexes necessary for increased microtubule nucleation, centrosomal maturation involves the loss of proteins involved in interphase microtubule organization ...
Mitotic G2-G2/M phases, organism-specific biosystem (from REACTOME)
Mitotic G2-G2/M phases, organism-specific biosystem
Mitotic G2-G2/M phases
Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystem (from REACTOME)
Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystemThe mitotic spindle becomes established once centrosomes have migrated to opposite poles and the nuclear envelope has broken down. During this stage, interphase centrosomes mature into mitotic centro...
Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystem (from REACTOME)
Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystemThe kinase activity of PLK1 is required for cell cycle progression as PLK1 phosphorylates and regulates a number of cellular proteins during mitosis. Centrosomic AURKA (Aurora A kinase), catalyticall...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-107233 (e-PCR)
- UniSTS:170311

SHGC-87720 (e-PCR)
- UniSTS:51366

D21S1272 (e-PCR)
- UniSTS:148691

Homology

Homologs of the PCNT gene: The PCNT gene is conserved in chimpanzee, dog, cow, rat, and chicken.
Orthologs from Annotation Pipeline: 204 organisms have orthologs with human gene PCNT
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
calmodulin binding	IEA Inferred from Electronic Annotation more info
molecular adaptor activity	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
G2/M transition of mitotic cell cycle	TAS Traceable Author Statement more info
ciliary basal body-plasma membrane docking	TAS Traceable Author Statement more info
cilium assembly	IDA Inferred from Direct Assay more info	PubMed
microtubule cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
mitotic spindle organization	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of intracellular protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of G2/M transition of mitotic cell cycle	TAS Traceable Author Statement more info
signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
centriolar satellite	IDA Inferred from Direct Assay more info	PubMed
centriole	IDA Inferred from Direct Assay more info	PubMed
centrosome	IDA Inferred from Direct Assay more info	PubMed
cytosol	IDA Inferred from Direct Assay more info
cytosol	TAS Traceable Author Statement more info
membrane	HDA more info	PubMed
microtubule	IEA Inferred from Electronic Annotation more info
microtubule organizing center	IDA Inferred from Direct Assay 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

NG_008961.2 RefSeqGene

Range

5001..126648

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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
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 Annotation Release 109 details...

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000021.9 Reference GRCh38.p13 Primary Assembly

Range

46324122..46445769

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
XM_017028362.2 → XP_016883851.1 pericentrin isoform X3
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
XM_017028363.1 → XP_016883852.1 pericentrin isoform X4
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