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
109.20200522	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

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (35)

Phenotypes

Go to the top of the page Help

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	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

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: 225 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

General protein information

Go to the top of the page Help

Preferred Names: pericentrin

Names: kendrin; pericentrin-2; pericentrin-380; pericentrin-B

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

5035..126648

Download

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

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
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.

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