CENPT centromere protein T [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16S2576E (e-PCR)
- UniSTS:21084

G20704 (e-PCR)
- UniSTS:16252

A006C32 (e-PCR)
- UniSTS:16253

D16S667E (e-PCR)
- UniSTS:148889

SHGC-61118 (e-PCR)
- UniSTS:36020

RH78543 (e-PCR)
- UniSTS:51383

G11818 (e-PCR)
- UniSTS:19177

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)

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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

67828157..67847693 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q96BT3, Q96I29, Q96IC6, Q96NK9, Q9H901

UniProtKB/TrEMBL

B3KPB2

Related

ENSP00000400140.2, ENST00000440851.6
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
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
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

NC_060940.1 Alternate T2T-CHM13v2.0

Range

73623939..73643467 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

Q96BT3, Q96I29, Q96IC6, Q96NK9, Q9H901

UniProtKB/TrEMBL

B3KPB2
XM_054313999.1 → XP_054169974.1 centromere protein T isoform X2

UniProtKB/TrEMBL

B3KPB2
XM_054314000.1 → XP_054169975.1 centromere protein T isoform X2

UniProtKB/TrEMBL

B3KPB2
XM_054314001.1 → XP_054169976.1 centromere protein T isoform X3

UniProtKB/TrEMBL

B4DWP4