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CENPP centromere protein P [ Homo sapiens (human) ]

Gene ID: 401541, updated on 15-Jun-2019

Summary

Official Symbol
CENPPprovided by HGNC
Official Full Name
centromere protein Pprovided by HGNC
Primary source
HGNC:HGNC:32933
See related
Ensembl:ENSG00000188312 MIM:611505
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

Genomic context

See CENPP in Genome Data Viewer
Location:
9q22.31
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (92325457..92615164)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (95087741..95377446)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268048 Neighboring gene isoleucyl-tRNA synthetase Neighboring gene microRNA 3651 Neighboring gene small nucleolar RNA, H/ACA box 84 Neighboring gene chromosome 16 open reading frame 70 pseudogene Neighboring gene nucleolar protein 8 Neighboring gene osteoglycin Neighboring gene osteomodulin Neighboring gene asporin Neighboring gene extracellular matrix protein 2 Neighboring gene microRNA 4670 Neighboring gene uncharacterized LOC100128361 Neighboring gene uncharacterized LOC107987095 Neighboring gene inositol-pentakisphosphate 2-kinase

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 FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Chromosome Maintenance, organism-specific biosystem (from REACTOME)
    Chromosome Maintenance, organism-specific biosystemChromosome maintenance is critical for stable chromosome function in mammalian and other eukaryotic cells. Aspects of telomere maintenance and nucleosome assembly are covered here.
  • Deposition of new CENPA-containing nucleosomes at the centromere, organism-specific biosystem (from REACTOME)
    Deposition of new CENPA-containing nucleosomes at the centromere, organism-specific biosystemEukaryotic centromeres are marked by a unique form of histone H3, designated CENPA in humans. In human cells newly synthesized CENPA is deposited in nucleosomes at the centromere during late telophas...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
  • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
  • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
    Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and th...
  • Nucleosome assembly, organism-specific biosystem (from REACTOME)
    Nucleosome assembly, organism-specific biosystemThe formation of centromeric chromatin assembly outside the context of DNA replication involves the assembly of nucleosomes containing the histone H3 variant CenH3 (also called CENP-A).
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
  • Resolution of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
    Resolution of Sister Chromatid Cohesion, organism-specific biosystemThe resolution of sister chromatids in mitotic prometaphase involves removal of cohesin complexes from chromosomal arms, with preservation of cohesion at centromeres (Losada et al. 1998, Hauf et al. ...
  • Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
    Separation of Sister Chromatids, organism-specific biosystemWhile sister chromatids resolve in prometaphase, separating along chromosomal arms, the cohesion of sister centromeres persists until anaphase. At the anaphase onset, the anaphase promoting complex/c...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33928

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
CENP-A containing nucleosome assembly TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
chromosome, centromeric region IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 

NCBI Reference Sequences (RefSeq)

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_001012267.3NP_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
    Q6IPU0
    Related
    ENSP00000364737.3, ENST00000375587.8
    Conserved Domains (1) summary
    pfam13096
    Location:103279
    CENP-P; CENP-A-nucleosome distal (CAD) centromere subunit, CENP-P
  2. NM_001286969.1NP_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:1167
    CENP-P; CENP-A-nucleosome distal (CAD) centromere subunit, CENP-P
  3. NM_001286971.1NP_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/Swiss-Prot
    Q6IPU0
    Related
    ENSP00000364729.3, ENST00000375579.7
    Conserved Domains (1) summary
    pfam13096
    Location:15106
    CENP-P; CENP-A-nucleosome distal (CAD) centromere subunit, CENP-P

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    92325457..92620529
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518689.1XP_011516991.1  centromere protein P isoform X4

    Related
    ENSP00000477821.1, ENST00000618653.1
    Conserved Domains (1) summary
    pfam13096
    Location:103188
    CENP-P; CENP-A-nucleosome distal (CAD) centromere subunit, CENP-P
  2. XM_011518685.2XP_011516987.1  centromere protein P isoform X2

    Conserved Domains (1) summary
    pfam13096
    Location:103156
    CENP-P; CENP-A-nucleosome distal (CAD) centromere subunit, CENP-P
  3. XM_017014715.2XP_016870204.1  centromere protein P isoform X1

  4. XM_024447543.1XP_024303311.1  centromere protein P isoform X3

    Conserved Domains (1) summary
    pfam13096
    Location:11187
    CENP-P; CENP-A-nucleosome distal (CAD) centromere subunit, CENP-P
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