Centromere protein T

CENPT
Identifiers
Aliases	CENPT, C16orf56, CENP-T, centromere protein T, SSMGA
External IDs	OMIM: 611510; MGI: 2443939; GeneCards: CENPT
Gene location (Human)
Chr.	Chromosome 16 (human)
End	67,847,811 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	106,579,910 bp
RNA expression pattern
	Top expressed in
	right hemisphere of cerebellum; ; right testis; ; left testis; ; skin of abdomen; ; skin of leg; ; granulocyte; ; right ovary; ; left ovary; ; body of pancreas; ; muscle layer of sigmoid colon;
	Top expressed in
	yolk sac; ; endocardial cushion; ; internal carotid artery; ; external carotid artery; ; otic vesicle; ; endothelial cell of lymphatic vessel; ; ventricular zone; ; morula; ; blastocyst; ; maxillary prominence;
	More reference expression data
	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
Databases	NCBI: entry; OMA: entry
	80152
	320394
	ENSG00000102901
	ENSMUSG00000036672
	Q96BT3
	Q3TJM4
	NM_025082
	NM_177150
	NP_079358
	NP_796124
	Wikidata
View/Edit Human	View/Edit Mouse

Centromere protein T is a protein that in humans is encoded by the CENPT gene.

Clinical significance

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

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000102901 – Ensembl, May 2017
1 2 3 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.

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000102901 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036672 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid16622420-5] 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.

[pmid16622419-6] 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-7] "Entrez Gene: CENPT centromere protein T".

[8] "OMIM Entry - # 618702 - SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA". www.omim.org. Retrieved 2020-01-25.

Centromere protein T

Clinical significance

See also

References

External links

Further reading