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CENPT centromere protein T [ Homo sapiens (human) ]

Gene ID: 80152, updated on 3-Apr-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
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Genomic context

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Location:
16q22.1
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (67828157..67847693, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (73623939..73643467, complement)
105.20220307 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. CENP-T provides a structural platform for outer kinetochore assembly. Nishino T, et al. EMBO J, 2013 Feb 6. PMID 23334297, 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. 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
  5. Integrity of the human centromere DNA repeats is protected by CENP-A, CENP-C, and CENP-T. Giunta S, et al. Proc Natl Acad Sci U S A, 2017 Feb 21. PMID 28167779, Free PMC Article

See all (47) 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
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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)

Genotypes

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_2023_10

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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