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) [1] Band 16q22.1 Start 67,828,157 bp [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] End 106,579,910 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 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]

See also

• CENPE
• CENPF
• CENPJ

References

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

External links

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

Further reading

• 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.