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CENPP centromere protein P [ Homo sapiens (human) ]

Gene ID: 401541, updated on 7-Jun-2020

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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (92325457..92620529)
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 1 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 inositol-pentakisphosphate 2-kinase Neighboring gene uncharacterized LOC107987095 Neighboring gene Sharpr-MPRA regulatory region 2132 Neighboring gene ribosomal protein L21 pseudogene 86

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?

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 PubChem

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 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 

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 Updated 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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