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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.