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CENPP centromere protein P [ Homo sapiens (human) ]

Gene ID: 401541, updated on 5-Mar-2024

Summary

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Official Symbol
CENPPprovided by HGNC
Official Full Name
centromere protein Pprovided by HGNC
Primary source
HGNC:HGNC:32933
See related
Ensembl:ENSG00000188312 MIM:611505; AllianceGenome:HGNC:32933
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CENP-P
Summary
CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in skin (RPKM 7.8), esophagus (RPKM 2.2) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
9q22.31
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (92325468..92620529)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (104491997..104787103)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (95087750..95382811)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene isoleucyl-tRNA synthetase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28593 Neighboring gene microRNA 3651 Neighboring gene small nucleolar RNA, H/ACA box 84 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:95086914-95087802 Neighboring gene phagosome assembly factor 1 pseudogene Neighboring gene nucleolar protein 8 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109628 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109638 Neighboring gene osteoglycin Neighboring gene osteomodulin Neighboring gene asporin Neighboring gene Sharpr-MPRA regulatory region 3268 Neighboring gene extracellular matrix protein 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:95320296-95321495 Neighboring gene microRNA 4670 Neighboring gene uncharacterized LOC100128361 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:95383063-95383333 Neighboring gene inositol-pentakisphosphate 2-kinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20031 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28597 Neighboring gene uncharacterized LOC107987095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28598 Neighboring gene Sharpr-MPRA regulatory region 2132 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109781 Neighboring gene ribosomal protein L21 pseudogene 86

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss. Robles-Bolivar P, et al. Eur J Hum Genet, 2022 Nov. PMID 36071244, Free PMC Article
  2. Step-wise assembly, maturation and dynamic behavior of the human CENP-P/O/R/Q/U kinetochore sub-complex. Eskat A, et al. PLoS One, 2012. PMID 23028590, Free PMC Article
  3. Mammalian polo-like kinase 1-dependent regulation of the PBIP1-CENP-Q complex at kinetochores. Kang YH, et al. J Biol Chem, 2011 Jun 3. PMID 21454580, Free PMC Article
  4. The CENP-H-I complex is required for the efficient incorporation of newly synthesized CENP-A into centromeres. Okada M, et al. Nat Cell Biol, 2006 May. PMID 16622420
  5. The human CENP-A centromeric nucleosome-associated complex. Foltz DR, et al. Nat Cell Biol, 2006 May. PMID 16622419

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss.
    Title: A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss.
  2. Data propose that CENP-P/O/R/Q/U self-assembles on kinetochores with varying stoichiometry and undergoes a pre-mitotic maturation step that could be important for kinetochores switching into the correct conformation for microtubule-attachment.
    Title: Step-wise assembly, maturation and dynamic behavior of the human CENP-P/O/R/Q/U kinetochore sub-complex.
  3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
  5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

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

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2012-09-19)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2012-09-19)

ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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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

Homology

Clone Names

  • FLJ33928

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in CENP-A containing chromatin assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in chromosome segregation NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
part_of inner kinetochore IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
centromere protein P

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.

mRNA and Protein(s)

  1. NM_001012267.3 → NP_001012267.1  centromere protein P isoform a

    See identical proteins and their annotated locations for NP_001012267.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AL157827, AL833701, BC071726
    Consensus CDS
    CCDS35063.1
    UniProtKB/Swiss-Prot
    B3KRA5, B3KS17, Q5T9F8, Q5T9F9, Q6IPU0
    Related
    ENSP00000364737.3, ENST00000375587.8
    Conserved Domains (1) summary
    pfam13096
    Location:103 → 279
    CENP-P; CENP-A-nucleosome distal (CAD) centromere subunit, CENP-P

  2. NM_001286969.1 → NP_001273898.1  centromere protein P isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' region, which results in translation initiation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AL833701, BX537851, DB056659
    UniProtKB/TrEMBL
    Q7Z672
    Conserved Domains (1) summary
    pfam13096
    Location:1 → 167
    CENP-P; CENP-A-nucleosome distal (CAD) centromere subunit, CENP-P

  3. NM_001286971.1 → NP_001273900.1  centromere protein P isoform c

    See identical proteins and their annotated locations for NP_001273900.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks several 5' exons but includes an alternate 5' terminal exon, and it thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AK091247, AL833701
    Consensus CDS
    CCDS69618.1
    UniProtKB/TrEMBL
    X6R9C8
    Related
    ENSP00000364729.3, ENST00000375579.7
    Conserved Domains (1) summary
    pfam13096
    Location:15 → 106
    CENP-P; CENP-A-nucleosome distal (CAD) centromere subunit, CENP-P

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    92325468..92620529
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518689.2 → XP_011516991.1  centromere protein P isoform X3

    Conserved Domains (1) summary
    pfam13096
    Location:103 → 188
    CENP-P; CENP-A-nucleosome distal (CAD) centromere subunit, CENP-P

  2. XM_047423391.1 → XP_047279347.1  centromere protein P isoform X4

  3. XM_047423392.1 → XP_047279348.1  centromere protein P isoform X5

  4. XM_011518685.3 → XP_011516987.1  centromere protein P isoform X1

    Conserved Domains (1) summary
    pfam13096
    Location:103 → 156
    CENP-P; CENP-A-nucleosome distal (CAD) centromere subunit, CENP-P

  5. XM_024447543.2 → XP_024303311.1  centromere protein P isoform X2

    Conserved Domains (1) summary
    pfam13096
    Location:11 → 187
    CENP-P; CENP-A-nucleosome distal (CAD) centromere subunit, CENP-P

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791788.1 Reference GRCh38.p14 PATCHES

    Range
    160197..455260
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333091.1 → XP_054189066.1  centromere protein P isoform X3

  2. XM_054333092.1 → XP_054189067.1  centromere protein P isoform X4

  3. XM_054333093.1 → XP_054189068.1  centromere protein P isoform X5

  4. XM_054333089.1 → XP_054189064.1  centromere protein P isoform X1

  5. XM_054333090.1 → XP_054189065.1  centromere protein P isoform X2

  6. XM_054333088.1 → XP_054189063.1  centromere protein P isoform X6

RNA

  1. XR_008485822.1 RNA Sequence

  2. XR_008485820.1 RNA Sequence

  3. XR_008485821.1 RNA Sequence

  4. XR_008485823.1 RNA Sequence

  5. XR_008485824.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    104491997..104787103
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054362969.1 → XP_054218944.1  centromere protein P isoform X3

  2. XM_054362970.1 → XP_054218945.1  centromere protein P isoform X4

  3. XM_054362971.1 → XP_054218946.1  centromere protein P isoform X5

  4. XM_054362967.1 → XP_054218942.1  centromere protein P isoform X1

  5. XM_054362968.1 → XP_054218943.1  centromere protein P isoform X2

  6. XM_054362966.1 → XP_054218941.1  centromere protein P isoform X7

RNA

  1. XR_008488021.1 RNA Sequence

  2. XR_008488019.1 RNA Sequence

  3. XR_008488020.1 RNA Sequence

  4. XR_008488022.1 RNA Sequence

  5. XR_008488023.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6IPU0.1 GenPept UniProtKB/Swiss-Prot:Q6IPU0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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