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    CENPV centromere protein V [ Homo sapiens (human) ]

    Gene ID: 201161, updated on 2-Nov-2024

    Summary

    Official Symbol
    CENPVprovided by HGNC
    Official Full Name
    centromere protein Vprovided by HGNC
    Primary source
    HGNC:HGNC:29920
    See related
    Ensembl:ENSG00000166582 MIM:608139; AllianceGenome:HGNC:29920
    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
    p30; PRR6; CENP-V; 3110013H01Rik
    Summary
    Predicted to enable carbon-sulfur lyase activity and metal ion binding activity. Involved in several processes, including centromere complex assembly; pericentric heterochromatin formation; and positive regulation of cytokinesis. Acts upstream of or within ameboidal-type cell migration. Located in several cellular components, including midbody; nucleus; and spindle midzone. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in small intestine (RPKM 17.0), duodenum (RPKM 16.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CENPV in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (16342537..16353469, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (16244860..16255803, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (16245851..16256783, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene nuclear receptor corepressor 1 Neighboring gene RNA, 7SL, cytoplasmic 442, pseudogene Neighboring gene hESC enhancers GRCh37_chr17:16117644-16118560 and GRCh37_chr17:16118561-16119476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11748 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class L Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11750 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16189057-16190046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11753 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16208527-16209028 Neighboring gene microRNA 1288 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8217 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8219 Neighboring gene uncharacterized LOC124903937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11755 Neighboring gene ubiquitin B

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Phenotypes

    EBI GWAS Catalog

    Description
    Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbon-sulfur lyase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within ameboidal-type cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in centromere complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pericentric heterochromatin formation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in pericentric heterochromatin formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cytokinesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of chromosome organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of chromosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    is_active_in kinetochore IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in midbody IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in spindle midzone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in spindle midzone IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    centromere protein V
    Names
    nuclear protein p30
    proline rich 6
    proline-rich protein 6

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_181716.3NP_859067.2  centromere protein V

      See identical proteins and their annotated locations for NP_859067.2

      Status: VALIDATED

      Source sequence(s)
      AF514992, BQ052702, BU618545
      Consensus CDS
      CCDS32575.1
      UniProtKB/Swiss-Prot
      B2RPK2, Q3L8N5, Q7Z7K6, Q8NFH6
      Related
      ENSP00000299736.4, ENST00000299736.5
      Conserved Domains (1) summary
      COG3791
      Location:144240
      COG3791; Uncharacterized conserved protein [Function unknown]

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      16342537..16353469 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      16244860..16255803 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)