CENPT

Centromere- and microtubule-associated protein

CENPT

Identifiers

Aliases

CENPT, C16orf56, CENP-T, centromere protein T, SSMGA

External IDs

OMIM: 611510 MGI: 2443939 HomoloGene: 41610 GeneCards: CENPT

Gene location (Human)

Chr.	Chromosome 16 (human)^[1]

Band	16q22.1	Start	67,828,157 bp^[1]
Band	16q22.1	End	67,847,811 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 8 (mouse)^[2]

Band	8\|8 D3	Start	106,571,305 bp^[2]
Band	8\|8 D3	End	106,579,910 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

skin of abdomen

body of pancreas

sural nerve

canal of the cervix

left uterine tube

body of stomach

gastric mucosa

anterior pituitary

transverse colon

left lobe of thyroid gland

Top expressed in

yolk sac

endocardial cushion

internal carotid artery

external carotid artery

morula

maxillary prominence

ganglionic eminence

hair follicle

thymus

superior cervical ganglion

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	protein heterodimerization activity protein binding DNA binding histone binding DNA-binding transcription factor activity, RNA polymerase II-specific
Cellular component	cytosol chromosome nucleoplasm chromosome, centromeric region nucleus kinetochore nuclear body
Biological process	kinetochore assembly CENP-A containing chromatin assembly chromosome organization chromosome segregation cell division cell cycle protein localization to kinetochore involved in kinetochore assembly mitotic cell cycle regulation of transcription by RNA polymerase II
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


80152


320394

Ensembl


ENSG00000102901


ENSMUSG00000036672

UniProt


Q96BT3


Q3TJM4

RefSeq (mRNA)


NM_025082


NM_177150

RefSeq (protein)


NP_079358


NP_796124

Location (UCSC)

Chr 16: 67.83 – 67.85 Mb

Chr 8: 106.57 – 106.58 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Centromere protein T is a protein that in humans is encoded by the CENPT gene.^[5]^[6]^[7]

Clinical significance

Mutations in CENPT cause an autosomal recessive syndrome of microcephaly, short stature, skeletal abnormalities, underdeveloped genitalia and pubertal delay.^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000102901 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000036672 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Okada M, Cheeseman IM, Hori T, Okawa K, McLeod IX, Yates JR 3rd, Desai A, Fukagawa T (May 2006). "The CENP-H-I complex is required for the efficient incorporation of newly synthesized CENP-A into centromeres". Nat Cell Biol. 8 (5): 446–57. doi:10.1038/ncb1396. PMID 16622420. S2CID 26974412.
^ Foltz DR, Jansen LE, Black BE, Bailey AO, Yates JR 3rd, Cleveland DW (May 2006). "The human CENP-A centromeric nucleosome-associated complex". Nat Cell Biol. 8 (5): 458–69. doi:10.1038/ncb1397. PMID 16622419. S2CID 205286556.
^ "Entrez Gene: CENPT centromere protein T".
^ "OMIM Entry - # 618702 - SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA". www.omim.org. Retrieved 2020-01-25.

External links

Human CENPT genome location and CENPT gene details page in the UCSC Genome Browser.

Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Obuse C, Yang H, Nozaki N, et al. (2004). "Proteomics analysis of the centromere complex from HeLa interphase cells: UV-damaged DNA binding protein 1 (DDB-1) is a component of the CEN-complex, while BMI-1 is transiently co-localized with the centromeric region in interphase". Genes Cells. 9 (2): 105–20. doi:10.1111/j.1365-2443.2004.00705.x. PMID 15009096. S2CID 21813024.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Nousiainen M, Silljé HH, Sauer G, et al. (2006). "Phosphoproteome analysis of the human mitotic spindle". Proc. Natl. Acad. Sci. U.S.A. 103 (14): 5391–6. Bibcode:2006PNAS..103.5391N. doi:10.1073/pnas.0507066103. PMC 1459365. PMID 16565220.
Izuta H, Ikeno M, Suzuki N, et al. (2006). "Comprehensive analysis of the ICEN (Interphase Centromere Complex) components enriched in the CENP-A chromatin of human cells". Genes Cells. 11 (6): 673–84. doi:10.1111/j.1365-2443.2006.00969.x. PMID 16716197. S2CID 45931410.