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    CENPP centromere protein P [ Homo sapiens (human) ]

    Gene ID: 401541, updated on 27-Nov-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
    mouse all
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    Genomic context

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    See CENPP in Genome Data Viewer
    Location:
    9q22.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (92325468..92620529)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (104491997..104787103)
    RS_2024_09 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 phagophore 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. Structural insights into human CCAN complex assembled onto DNA. Tian T, et al. Cell Discov, 2022 Sep 9. PMID 36085283, Free PMC Article

    See all (31) 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)

    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_2024_08

    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

      UniProtKB/TrEMBL
      A0AAG2UUV8
      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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