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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
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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?

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)

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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_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