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    CENPT centromere protein T [ Homo sapiens (human) ]

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

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    centromere protein T
    Names
    interphase centromere complex protein 22

    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_025082.4NP_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:1415
      CENP-T_N; Centromere kinetochore component CENP-T N-terminus
      cl23735
      Location:450551
      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_047434686.1XP_047290642.1  centromere protein T isoform X1

      UniProtKB/Swiss-Prot
      Q96BT3, Q96I29, Q96IC6, Q96NK9, Q9H901
      Related
      ENSP00000400140.2, ENST00000440851.6
    2. XM_024450455.2XP_024306223.1  centromere protein T isoform X2

      UniProtKB/TrEMBL
      B3KPB2
      Conserved Domains (2) summary
      pfam15511
      Location:347450
      CENP-T_C; Centromere kinetochore component CENP-T histone fold
      pfam16171
      Location:1310
      CENP-T_N; Centromere kinetochore component CENP-T N-terminus
    3. XM_024450456.2XP_024306224.1  centromere protein T isoform X2

      UniProtKB/TrEMBL
      B3KPB2
      Conserved Domains (2) summary
      pfam15511
      Location:347450
      CENP-T_C; Centromere kinetochore component CENP-T histone fold
      pfam16171
      Location:1310
      CENP-T_N; Centromere kinetochore component CENP-T N-terminus
    4. XM_017023717.2XP_016879206.1  centromere protein T isoform X3

      UniProtKB/TrEMBL
      B4DWP4
      Conserved Domains (2) summary
      pfam15511
      Location:203306
      CENP-T_C; Centromere kinetochore component CENP-T histone fold
      pfam16171
      Location:4166
      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_054313998.1XP_054169973.1  centromere protein T isoform X1

      UniProtKB/Swiss-Prot
      Q96BT3, Q96I29, Q96IC6, Q96NK9, Q9H901
    2. XM_054313999.1XP_054169974.1  centromere protein T isoform X2

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

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