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    CENPT centromere protein T [ Homo sapiens (human) ]

    Gene ID: 80152, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CENPTprovided by HGNC
    Official Full Name
    centromere protein Tprovided by HGNC
    Primary source
    HGNC:HGNC:25787
    See related
    Ensembl:ENSG00000102901 MIM:611510; AllianceGenome:HGNC:25787
    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
    SSMGA; CENP-T; C16orf56
    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). CENPT is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in skin (RPKM 26.3), testis (RPKM 20.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CENPT in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (67828157..67847693, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (73623939..73643467, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67862060..67881596, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RAN binding protein 10 Neighboring gene Sharpr-MPRA regulatory region 12647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10984 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:67839586-67840206 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:67840207-67840826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7626 Neighboring gene translin associated factor X interacting protein 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:67851021-67851203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67859393-67860253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10988 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7627 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:67876439-67877185 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10990 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10991 Neighboring gene THAP domain containing 11 Neighboring gene nuclear transport factor 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:67907171-67907671 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67918365-67918874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:67918875-67919382 Neighboring gene enhancer of mRNA decapping 4 Neighboring gene neuritin 1 like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Distinct organization and regulation of the outer kinetochore KMN network downstream of CENP-C and CENP-T. Rago F, et al. Curr Biol, 2015 Mar 2. PMID 25660545, Free PMC Article
    2. Holliday junction recognition protein interacts with and specifies the centromeric assembly of CENP-T. Ding M, et al. J Biol Chem, 2019 Jan 18. PMID 30459232, Free PMC Article
    3. A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure. Hung CY, et al. PLoS One, 2017. PMID 29228025, Free PMC Article
    4. A CENP-S/X complex assembles at the centromere in S and G2 phases of the human cell cycle. Dornblut C, et al. Open Biol, 2014 Feb 12. PMID 24522885, Free PMC Article
    5. The CENP-T/-W complex is a binding partner of the histone chaperone FACT. Prendergast L, et al. Genes Dev, 2016 Jun 1. PMID 27284163, Free PMC Article

    See all (51) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. these data define a novel molecular mechanism underlying the assembly of CENP-T onto the centromere by a temporally regulated HJURP-CENP-T interaction.
      Title: Holliday junction recognition protein interacts with and specifies the centromeric assembly of CENP-T.
    2. Levels of centromere aberrations increase upon depletion of CENP-A, CENP-C, and CENP-T/W, during replicative senescence, and in cancer cells.
      Title: Integrity of the human centromere DNA repeats is protected by CENP-A, CENP-C, and CENP-T.
    3. report a novel disease gene encoding the constitutive inner kinetochore member CENPT, which is involved in kinetochore targeting and assembly, resulting in severe growth failure in two siblings of a consanguineous family
      Title: A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.
    4. Upon cross-linking, the entire CENPA/CENPB/CENPC/CENPT complex is nuclease-protected over an alpha-satellite dimer that comprises the fundamental unit of centromeric chromatin. We conclude that CENPA/CENPC and CENPT pathways for kinetochore assembly are physically integrated over young alpha-satellite dimers.
      Title: CENPT bridges adjacent CENPA nucleosomes on young human α-satellite dimers.
    5. Whereas CENP-C recruits a single MIS12:NDC80 complex, the authors show here that CENP-T binds one MIS12:NDC80 and two NDC80 complexes upon phosphorylation by the mitotic CDK1:Cyclin B complex at three distinct CENP-T sites.
      Title: Molecular basis of outer kinetochore assembly on CENP-T.
    6. FACT chaperone stabilizes the soluble CENP-T/-W complex in the cell and promotes dynamics of exchange, enabling CENP-T/-W deposition at centromeres.
      Title: The CENP-T/-W complex is a binding partner of the histone chaperone FACT.
    7. We used a synthetic system to dissect how CenH3(CENP-A) contributes to the accumulation of CENP-C and CENP-T, two key components that are necessary for the formation of functional kinetochores
      Title: HJURP involvement in de novo CenH3(CENP-A) and CENP-C recruitment.
    8. CENP-T directly interacts with Ndc80, which in turn promotes KNL1/Mis12 complex recruitment at kinetochores during chromosome segregation.
      Title: Distinct organization and regulation of the outer kinetochore KMN network downstream of CENP-C and CENP-T.
    9. CSN5 regulates the stability of the inner kinetochore components CENP-T and CENP-W, providing the first direct link between CSN5 and the mitotic apparatus, highlighting the role of CSN5 as a multifunctional cell cycle regulator.
      Title: CSN5/JAB1 interacts with the centromeric components CENP-T and CENP-W and regulates their proteasome-mediated degradation.
    10. CENP-T provides a structural platform for outer kinetochore assembly.
      Title: CENP-T provides a structural platform for outer kinetochore assembly.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Short stature and microcephaly with genital anomalies
    MedGen: C5231467 OMIM: 618702 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13111, FLJ43376

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromosome organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chromosome segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chromosome segregation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in kinetochore assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromosome, centromeric region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of inner kinetochore IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    centromere protein T
    Names
    interphase centromere complex protein 22

    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_025082.4 → NP_079358.3  centromere protein T

      See identical proteins and their annotated locations for NP_079358.3

      Status: VALIDATED

      Source sequence(s)
      AC040162, AK056097, AK225399, CD242240
      Consensus CDS
      CCDS42182.1
      UniProtKB/Swiss-Prot
      Q96BT3, Q96I29, Q96IC6, Q96NK9, Q9H901
      UniProtKB/TrEMBL
      B3KPB2
      Related
      ENSP00000457810.1, ENST00000562787.6
      Conserved Domains (2) summary
      pfam16171
      Location:1 → 415
      CENP-T_N; Centromere kinetochore component CENP-T N-terminus
      cl23735
      Location:450 → 551
      H4; Histone H4, one of the four histones, along with H2A, H2B and H3, which forms the eukaryotic nucleosome core; along with H3, it plays a central role in nucleosome formation; histones bind to DNA and wrap the genetic material into "beads on a string" in ...

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      67828157..67847693 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434686.1 → XP_047290642.1  centromere protein T isoform X1

      UniProtKB/Swiss-Prot
      Q96BT3, Q96I29, Q96IC6, Q96NK9, Q9H901
      Related
      ENSP00000400140.2, ENST00000440851.6

    2. XM_024450455.2 → XP_024306223.1  centromere protein T isoform X2

      UniProtKB/TrEMBL
      B3KPB2
      Conserved Domains (2) summary
      pfam15511
      Location:347 → 450
      CENP-T_C; Centromere kinetochore component CENP-T histone fold
      pfam16171
      Location:1 → 310
      CENP-T_N; Centromere kinetochore component CENP-T N-terminus

    3. XM_024450456.2 → XP_024306224.1  centromere protein T isoform X2

      UniProtKB/TrEMBL
      B3KPB2
      Conserved Domains (2) summary
      pfam15511
      Location:347 → 450
      CENP-T_C; Centromere kinetochore component CENP-T histone fold
      pfam16171
      Location:1 → 310
      CENP-T_N; Centromere kinetochore component CENP-T N-terminus

    4. XM_017023717.2 → XP_016879206.1  centromere protein T isoform X3

      UniProtKB/TrEMBL
      B4DWP4
      Conserved Domains (2) summary
      pfam15511
      Location:203 → 306
      CENP-T_C; Centromere kinetochore component CENP-T histone fold
      pfam16171
      Location:4 → 166
      CENP-T_N; Centromere kinetochore component CENP-T N-terminus

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      73623939..73643467 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313998.1 → XP_054169973.1  centromere protein T isoform X1

      UniProtKB/Swiss-Prot
      Q96BT3, Q96I29, Q96IC6, Q96NK9, Q9H901

    2. XM_054313999.1 → XP_054169974.1  centromere protein T isoform X2

    3. XM_054314000.1 → XP_054169975.1  centromere protein T isoform X2

    4. XM_054314001.1 → XP_054169976.1  centromere protein T isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96BT3.2 GenPept UniProtKB/Swiss-Prot:Q96BT3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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