CENPT
entrez
80152
canonical
uniprot
Q96BT3
canonical
ensembl
ENSG00000102901
resolver
ensp
ENSP00000457810
resolver
ensp
ENSP00000570012
resolver
genesymbol
CENPT
resolver
genesymbol_syn
C16orf56
resolver
genesymbol_syn
ICEN22
resolver
hgnc
HGNC:25787
resolver
uniprot
B3KPB2
resolver
uniprot
Q96I29
resolver
uniprot
Q96IC6
resolver
uniprot
Q96NK9
resolver
uniprot
Q9H901
resolver
uniprot_entry
B3KPB2_HUMAN
resolver
uniprot_entry
CENPT_HUMAN
resolver
uniprot_sec
Q96I29
resolver
uniprot_sec
Q96IC6
resolver
uniprot_sec
Q96NK9
resolver
uniprot_sec
Q9H901
resolver
amino_acid_sequence
MADHNPDSDSTPRTLLRRVLDTADPRTPRRPRSARAGARRALLETASPRKLSGQTRTIARGRSHGARSVGRSAHIQASGHLEEQTPRTLLKNILLTAPESSILMPESVVKPVPAPQAVQPSRQESSCGSLELQLPELEPPTTLAPGLLAPGRRKQRLRLSVFQQGVDQGLSLSQEPQGNADASSLTRSLNLTFATPLQPQSVQRPGLARRPPARRAVDVGAFLRDLRDTSLAPPNIVLEDTQPFSQPMVGSPNVYHSLPCTPHTGAEDAEQAAGRKTQSSGPGLQKNSPGKPAQFLAGEAEEVNAFALGFLSTSSGVSGEDEVEPLHDGVEEAEKKMEEEGVSVSEMEATGAQGPSRVEEAEGHTEVTEAEGSQGTAEADGPGASSGDEDASGRAASPESASSTPESLQARRHHQFLEPAPAPGAAVLSSEPAEPLLVRHPPRPRTTGPRPRQDPHKAGLSHYVKLFSFYAKMPMERKALEMVEKCLDKYFQHLCDDLEVFAAHAGRKTVKPEDLELLMRRQGLVTDQVSLHVLVERHLPLEYRQLLIPCAYSGNSVFPAQ
uniprot
proteins
disease_involvement
DISEASE: Short stature and microcephaly with genital anomalies (SSMGA) [MIM:618702]: An autosomal recessive disease characterized by growth failure resulting in severe short stature, severe microcephaly, and delayed and dissociated bone age. Additional features include global psychomotor developmental delay, pubertal delay and genital anomalies. {ECO:0000269|PubMed:29228025}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. Part of a nucleosome-associated complex that binds specifically to histone H3-containing nucleosomes at the centromere, as opposed to nucleosomes containing CENPA. Component of the heterotetrameric CENP-T-W-S-X complex that binds and supercoils DNA, and plays an important role in kinetochore assembly. CENPT has a fundamental role in kinetochore assembly and function. It is one of the inner kinetochore proteins, with most further proteins binding downstream. Required for normal chromosome organization and normal progress through mitosis. {ECO:0000269|PubMed:16716197, ECO:0000269|PubMed:21529714, ECO:0000269|PubMed:21695110}.
uniprot
proteins
mass_dalton
60423
uniprot
proteins
post_translational_modification
PTM: Dynamically phosphorylated at Ser-47 and probably also other sites during the cell cycle. Phosphorylated at Ser-47 during G2 phase, metaphase and anaphase, but not during telophase or G1 phase. {ECO:0000269|PubMed:21529714}.
uniprot
proteins
protein_family
CENP-T/CNN1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16622419
uniprot
proteins
pubmed
16716197
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19070575
uniprot
proteins
pubmed
19412974
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19533040
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21529714
uniprot
proteins
pubmed
21695110
uniprot
proteins
pubmed
22304917
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27499292
uniprot
proteins
pubmed
29228025
uniprot
proteins
sequence_length
561
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere {ECO:0000269|PubMed:16716197, ECO:0000269|PubMed:19070575, ECO:0000269|PubMed:19412974}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:19412974}. Note=Constitutively localizes to centromeres throughout the cell cycle, and to kinetochores during mitosis. Localizes to the inner kinetochore, and may connect it to the outer kinetochore via its N-terminus. {ECO:0000269|PubMed:19412974}.
uniprot
proteins