CENPT explained

Centromere protein T is a protein that in humans is encoded by the CENPT gene.^{[1] [2] [3]}

Clinical significance

Mutations in CENPT cause an autosomal recessive syndrome of microcephaly, short stature, skeletal abnormalities, underdeveloped genitalia and pubertal delay.^[4]

See also

• CENPE
• CENPF
• CENPJ

Further reading

• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Suzuki Y . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 . vanc. Yoshitomo-Nakagawa K . Maruyama K . 3 . Suyama . Akira . Sugano . Sumio .
• Strausberg RL . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . vanc. Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Obuse C . 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 . 2004 . 15009096 . 10.1111/j.1365-2443.2004.00705.x . vanc. Yang H . Nozaki N . 3 . Goto . Shouhei . Okazaki . Tuneko . Tsuneko Okazaki . Yoda . Kinya . 21813024 . free .
• Gerhard DS . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Nousiainen M . Phosphoproteome analysis of the human mitotic spindle . Proc. Natl. Acad. Sci. U.S.A. . 103 . 14 . 5391–6 . 2006 . 16565220 . 10.1073/pnas.0507066103 . 1459365 . vanc. Silljé HH . Sauer G . 3 . Nigg . EA . Körner . R . 2006PNAS..103.5391N . free .
• Izuta H . Comprehensive analysis of the ICEN (Interphase Centromere Complex) components enriched in the CENP-A chromatin of human cells . Genes Cells . 11 . 6 . 673–84 . 2006 . 16716197 . 10.1111/j.1365-2443.2006.00969.x . vanc. Ikeno M . Suzuki N . 3 . Tomonaga . Takeshi . Nozaki . Naohito . Obuse . Chikashi . Kisu . Yasutomo . Goshima . Naoki . Nomura . Fumio . 45931410 . free .

Notes and References

1. Okada M, Cheeseman IM, Hori T, Okawa K, McLeod IX, Yates JR 3rd, Desai A, Fukagawa T . 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 . May 2006 . 16622420 . 10.1038/ncb1396 . 26974412 .
2. Foltz DR, Jansen LE, Black BE, Bailey AO, Yates JR 3rd, Cleveland DW . The human CENP-A centromeric nucleosome-associated complex . Nat Cell Biol . 8 . 5 . 458–69 . May 2006 . 16622419 . 10.1038/ncb1397 . 205286556 .
3. Web site: Entrez Gene: CENPT centromere protein T.
4. Web site: OMIM Entry - # 618702 - SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA. www.omim.org. 2020-01-25.