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PCNT pericentrin [ Homo sapiens (human) ]

Gene ID: 5116, updated on 9-Jun-2024

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
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Genomic context

See PCNT in Genome Data Viewer
Location:
21q22.3
Exon count:
48
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (46324156..46445769)
RS_2023_10 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 MCM3AP antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18599 Neighboring gene minichromosome maintenance complex component 3 associated protein Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13417 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13418 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47709143-47709725 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47709726-47710307 Neighboring gene Sharpr-MPRA regulatory region 4411 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47715289-47715862 Neighboring gene Sharpr-MPRA regulatory region 1466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47736113-47736948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47737784-47738618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47738619-47739453 Neighboring gene chromosome 21 open reading frame 58 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:47741059-47741321 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18600 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13420 Neighboring gene ybeY metalloendoribonuclease Neighboring gene uncharacterized LOC128092249 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:47746938-47747110 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18601 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47783310-47783810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18603 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47798693-47799473 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47805909-47806409 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47823360-47823870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47823871-47824380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47831521-47832096 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47841246-47841752 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47842260-47842765 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47841753-47842259 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47846379-47846880 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47846881-47847380 Neighboring gene ribosomal protein L18a pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47863446-47864365 Neighboring gene uncharacterized LOC124905046 Neighboring gene MPRA-validated peak4431 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13421 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18605 Neighboring gene DIP2A intronic transcript 1 Neighboring gene disco interacting protein 2 homolog A

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 
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

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_001315529.2NP_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:11621839
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam07798
    Location:145276
    DUF1640; Protein of unknown function (DUF1640)
    pfam10495
    Location:29423019
    PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein
  2. NM_006031.6NP_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:12801957
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam07798
    Location:263394
    DUF1640; Protein of unknown function (DUF1640)
    pfam10495
    Location:31393216
    PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    44709501..44831895
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)