CENPT
| CENPT | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | CENPT, C16orf56, CENP-T, centromere protein T, SSMGA | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 611510; MGI: 2443939; HomoloGene: 41610; GeneCards: CENPT; OMA:CENPT - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Centromere protein T is a protein that in humans is encoded by the CENPT gene.[5][6][7]
Clinical significance
[edit]Mutations in CENPT cause an autosomal recessive syndrome of microcephaly, short stature, skeletal abnormalities, underdeveloped genitalia and pubertal delay.[8]
See also
[edit]References
[edit]- 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
[edit]- Human CENPT genome location and CENPT gene details page in the UCSC Genome Browser.
Further reading
[edit]- 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.
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