CENPT
Identifiers
Aliases	CENPT, C16orf56, CENP-T, centromere protein T, SSMGA
External IDs	OMIM: 611510 MGI: 2443939 HomoloGene: 41610 GeneCards: CENPT
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 skin of abdomen body of pancreas sural nerve canal of the cervix left uterine tube body of stomach gastric mucosa anterior pituitary transverse colon left lobe of thyroid gland Top expressed in yolk sac endocardial cushion internal carotid artery external carotid artery morula maxillary prominence ganglionic eminence hair follicle thymus superior cervical ganglion 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
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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]