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    CENPU centromere protein U [ Homo sapiens (human) ]

    Gene ID: 79682, updated on 2-Nov-2024

    Summary

    Official Symbol
    CENPUprovided by HGNC
    Official Full Name
    centromere protein Uprovided by HGNC
    Primary source
    HGNC:HGNC:21348
    See related
    Ensembl:ENSG00000151725 MIM:611511; AllianceGenome:HGNC:21348
    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
    KLIP1; PBIP1; CENP50; MLF1IP; CENPU50
    Summary
    The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). MLF1IP, or CENPU, is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]
    Expression
    Biased expression in testis (RPKM 44.2), bone marrow (RPKM 27.7) and 10 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CENPU in Genome Data Viewer
    Location:
    4q35.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (184694085..184734096, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (188037836..188077855, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (185615239..185655250, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22231 Neighboring gene Sharpr-MPRA regulatory region 13226 Neighboring gene long intergenic non-protein coding RNA 2365 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:185537732-185538289 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:185539175-185539674 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:185546799-185547380 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:185564061-185564639 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:185564640-185565217 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:185565519-185566150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15841 Neighboring gene caspase 3 Neighboring gene primase and DNA directed polymerase Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:185609328-185610527 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15842 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:185654690-185655556 Neighboring gene NANOG hESC enhancer GRCh37_chr4:185657064-185657583 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:185668497-185668998 Neighboring gene acyl-CoA synthetase long chain family member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22233 Neighboring gene NANOG hESC enhancer GRCh37_chr4:185729525-185730070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22235 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22237 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22239 Neighboring gene proteoglycan 3, pro eosinophil major basic protein 2 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22240 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15844 Neighboring gene uncharacterized LOC105377587 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:185747691-185748194 Neighboring gene MIR3945 host gene

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies three new risk loci for Kawasaki disease.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ23468

    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 chordate embryonic development 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 centriolar satellite IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of inner kinetochore IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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

    Preferred Names
    centromere protein U
    Names
    KSHV latent nuclear antigen interacting protein 1
    MLF1 interacting protein
    centromere protein of 50 kDa
    interphase centromere complex protein 24
    polo-box-interacting protein 1

    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_024629.4NP_078905.2  centromere protein U

      See identical proteins and their annotated locations for NP_078905.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      AF469667, AF516710
      Consensus CDS
      CCDS3838.1
      UniProtKB/Swiss-Prot
      A2RRD9, Q09GN2, Q32Q71, Q71F23, Q9H5G1
      UniProtKB/TrEMBL
      A8K8D2
      Related
      ENSP00000281453.5, ENST00000281453.10
      Conserved Domains (2) summary
      pfam13097
      Location:150320
      CENP-U; CENP-A nucleosome associated complex (NAC) subunit
      cl25732
      Location:245417
      SMC_N; RecF/RecN/SMC N terminal domain

    RNA

    1. NR_104593.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC079257, BC131556, BC141854

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      184694085..184734096 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005263218.5XP_005263275.2  centromere protein U isoform X1

      UniProtKB/TrEMBL
      A8K8D2
      Conserved Domains (1) summary
      pfam13097
      Location:180350
      CENP-U; CENP-A nucleosome associated complex (NAC) subunit
    2. XM_047416162.1XP_047272118.1  centromere protein U isoform X2

    3. XM_047416163.1XP_047272119.1  centromere protein U isoform X3

      Related
      ENSP00000423248.1, ENST00000510146.5

    RNA

    1. XR_007057963.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      188037836..188077855 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350827.1XP_054206802.1  centromere protein U isoform X1