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; 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: mouse all
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Genomic context

Location:: 21q22.3

Exon count:: 48

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (46324156..46445769)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (44709501..44831895)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (47744070..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 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 Functions

What's a GeneRIF?

Pericentrin deficiency in smooth muscle cells augments atherosclerosis through HSF1-driven cholesterol biosynthesis and PERK activation.
Title: Pericentrin deficiency in smooth muscle cells augments atherosclerosis through HSF1-driven cholesterol biosynthesis and PERK activation.
PCNT is a prognostic biomarker correlated with tumor immune microenvironment in hepatocellular carcinoma and promotes tumor progression by inhibiting cell cycle arrest.
Title: PCNT is a prognostic biomarker correlated with tumor immune microenvironment in hepatocellular carcinoma and promotes tumor progression by inhibiting cell cycle arrest.
Triple deletion of TP53, PCNT, and CEP215 promotes centriole amplification in the M phase.
Title: Triple deletion of TP53, PCNT, and CEP215 promotes centriole amplification in the M phase.
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.
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.
Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria.
Title: Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (46)

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: Microcephalic Osteodysplastic Primordial Dwarfism Type II	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

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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

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

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

D21S1272 (e-PCR)
- UniSTS:148691

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 microtubule nucleation	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic spindle organization	IBA Inferred from Biological aspect of Ancestor more info
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 more info	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

NG_008961.2 RefSeqGene

Range

5035..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

Consensus CDS

CCDS93109.1

UniProtKB/TrEMBL

A0A8Q3SHZ3

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
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

O43152, O95613, Q7Z7C9

UniProtKB/TrEMBL

A0A8Q3SHZ3

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