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PCNT pericentrin [ Homo sapiens (human) ]

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

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:
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

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

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 
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/Swiss-Prot
    O95613
    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
    O95613, Q7Z7C9
    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: 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_011529594.4XP_011527896.1  pericentrin isoform X1

    Conserved Domains (3) summary
    TIGR02168
    Location:13071984
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam07798
    Location:290421
    DUF1640; Protein of unknown function (DUF1640)
    pfam10495
    Location:31663243
    PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein
  2. XM_047440809.1XP_047296765.1  pericentrin isoform X14

  3. XM_047440807.1XP_047296763.1  pericentrin isoform X12

  4. XM_047440816.1XP_047296772.1  pericentrin isoform X22

  5. XM_047440800.1XP_047296756.1  pericentrin isoform X5

  6. XM_047440813.1XP_047296769.1  pericentrin isoform X19

  7. XM_047440798.1XP_047296754.1  pericentrin isoform X2

  8. XM_047440808.1XP_047296764.1  pericentrin isoform X13

  9. XM_047440801.1XP_047296757.1  pericentrin isoform X6

  10. XM_047440802.1XP_047296758.1  pericentrin isoform X7

  11. XM_047440814.1XP_047296770.1  pericentrin isoform X20

  12. XM_047440803.1XP_047296759.1  pericentrin isoform X8

  13. XM_005261124.6XP_005261181.1  pericentrin isoform X3

    UniProtKB/TrEMBL
    A0A8Q3SHZ3
    Related
    ENSP00000512015.1, ENST00000695558.1
    Conserved Domains (4) summary
    COG1196
    Location:8701615
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:2461035
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam07798
    Location:263394
    DUF1640; Protein of unknown function (DUF1640)
    pfam10495
    Location:31503227
    PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein
  14. XM_047440811.1XP_047296767.1  pericentrin isoform X17

  15. XM_017028362.3XP_016883851.1  pericentrin isoform X15

  16. XM_047440804.1XP_047296760.1  pericentrin isoform X9

  17. XM_047440818.1XP_047296774.1  pericentrin isoform X24

  18. XM_047440799.1XP_047296755.1  pericentrin isoform X4

  19. XM_047440812.1XP_047296768.1  pericentrin isoform X18

  20. XM_047440810.1XP_047296766.1  pericentrin isoform X16

  21. XM_047440817.1XP_047296773.1  pericentrin isoform X23

  22. XM_047440815.1XP_047296771.1  pericentrin isoform X21

  23. XM_047440805.1XP_047296761.1  pericentrin isoform X10

  24. XM_047440806.1XP_047296762.1  pericentrin isoform X11

  25. XM_024452082.2XP_024307850.1  pericentrin isoform X25

    Conserved Domains (3) summary
    pfam10495
    Location:27782855
    PACT_coil_coil; Pericentrin-AKAP-450 domain of centrosomal targeting protein
    cl25732
    Location:4981243
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26511
    Location:21732585
    Neuromodulin_N; Gap junction protein N-terminal region
  26. XM_047440819.1XP_047296775.1  pericentrin isoform X26

  27. XM_047440820.1XP_047296776.1  pericentrin isoform X26

  28. XM_047440821.1XP_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)