CENPT

CENPT
Identifiers
Aliases	CENPT, C16orf56, CENP-T, centromere protein T, SSMGA
External IDs	OMIM: 611510; MGI: 2443939; HomoloGene: 41610; GeneCards: CENPT; OMA:CENPT - orthologs
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
	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.^[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.

This article on a gene on human chromosome 16 is a stub. You can help Wikipedia by expanding it.

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

[refGRCm38Ensembl-2] 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.

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CENPT

Clinical significance

See also

References

External links

Further reading