Property Summary

NCBI Gene PubMed Count 25
Grant Count 17
R01 Count 10
Funding $1,049,878.78
PubMed Score 49.27
PubTator Score 32.17

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma -1.322 0.000
group 3 medulloblastoma 1.100 0.021

Gene RIF (16)

PMID Text
27265469 HBV DNAPTP1 downregulated the expression of SWI5 and CTC1 at translation level.
25928698 an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation
25906927 Coats plus syndrome also known as cerebroretinal microangiopathy with calcifications and cysts, is an autosomal recessive pleomorphic disorder caused by the CTS telomere maintenance complex component 1 gene.
25843205 CTC1 gene screening confirmed the diagnosis of cerebro-retinal microangiopathy with calcifications and cysts with the identification of heterozygous deleterious mutations
25598199 we explored two SNPs in genes associated either with telomere biology (OBFC1) or with LTL (OBCF1 and CTC1). Interestingly, we observed that genetic variation does not account for LTL at birth
24115768 identify CTC1 disease mutations that disrupt CST complex formation, the physical interaction with DNA polymerase alpha-primase (polalpha-primase), telomeric ssDNA binding in vitro, accumulation in the nucleus, and/or telomere association in vivo
23869908 CTC1 mutations promote telomere dysfunction by decreasing the stability of STN1 to reduce its ability to interact with DNA Polalpha, thus highlighting a previously unknown mechanism to induce telomere dysfunction.
23851344 The mammalian CST (CTC1-STN1-TEN1) complex is directly involved at several stages of telomere end formation and CST seems to play critical roles in coordinating telomerase elongation and fill-in synthesis to complete telomere replication.
23001564 Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.
22863775 CTC1-STN1-TEN1 complex rescues stalled replication forks during conditions of replication stress, such as those found at natural replication barriers, likely by facilitating dormant origin firing
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AA Sequence

MAAGRAQVPSSEQAWLEDAQVFIQKTLCPAVKEPNVQLTPLVIDCVKTVWLSQGRNQGSTLPLSYSFVSV      1 - 70
QDLKTHQRLPCCSHLSWSSSAYQAWAQEAGPNGNPLPREQLLLLGTLTDLSADLEQECRNGSLYVRDNTG     71 - 140
VLSCELIDLDLSWLGHLFLFPRWSYLPPARWNSSGEGHLELWDAPVPVFPLTISPGPVTPIPVLYPESAS    141 - 210
CLLRLRNKLRGVQRNLAGSLVRLSALVKSKQKAYFILSLGRSHPAVTHVSIIVQVPAQLVWHRALRPGTA    211 - 280
YVLTELRVSKIRGQRQHVWMTSQSSRLLLLKPECVQELELELEGPLLEADPKPLPMPSNSEDKKDPESLV    281 - 350
RYSRLLSYSGAVTGVLNEPAGLYELDGQLGLCLAYQQFRGLRRVMRPGVCLQLQDVHLLQSVGGGTRRPV    351 - 420
LAPCLRGAVLLQSFSRQKPGAHSSRQAYGASLYEQLVWERQLGLPLYLWATKALEELACKLCPHVLRHHQ    421 - 490
FLQHSSPGSPSLGLQLLAPTLDLLAPPGSPVRNAHNEILEEPHHCPLQKYTRLQTPSSFPTLATLKEEGQ    491 - 560
RKAWASFDPKALLPLPEASYLPSCQLNRRLAWSWLCLLPSAFCPAQVLLGVLVASSHKGCLQLRDQSGSL    561 - 630
PCLLLAKHSQPLSDPRLIGCLVRAERFQLIVERDVRSSFPSWKELSMPGFIQKQQARVYVQFFLADALIL    631 - 700
PVPRPCLHSATPSTPQTDPTGPEGPHLGQSRLFLLCHKEALMKRNFCVPPGASPEVPKPALSFYVLGSWL    701 - 770
GGTQRKEGTGWGLPEPQGNDDNDQKVHLIFFGSSVRWFEFLHPGQVYRLIAPGPATPMLFEKDGSSCISR    771 - 840
RPLELAGCASCLTVQDNWTLELESSQDIQDVLDANKSLPESSLTDLLSDNFTDSLVSFSAEILSRTLCEP    841 - 910
LVASLWMKLGNTGAMRRCVKLTVALETAECEFPPHLDVYIEDPHLPPSLGLLPGARVHFSQLEKRVSRSH    911 - 980
NVYCCFRSSTYVQVLSFPPETTISIPLPHIYLAELLQGGQSPFQATASCHIVSVFSLQLFWVCAYCTSIC    981 - 1050
RQGKCTRLGSTCPTQTAISQAIIRLLVEDGTAEAVVTCRNHHVAAALGLCPREWASLLDFVQVPGRVVLQ   1051 - 1120
FAGPGAQLESSARVDEPMTMFLWTLCTSPSVLRPIVLSFELERKPSKIVPLEPPRLQRFQCGELPFLTHV   1121 - 1190
NPRLRLSCLSIRESEYSSSLGILASSC                                              1191 - 1217
//

Text Mined References (28)

PMID Year Title
27265469 2016 Downregulation of SWI5 and CTC1 genes: hepatitis B virus DNA polymerase transactivated protein 1-mediated inhibition of DNA repair.
25928698 2015 Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.
25906927 2015 Genetics and molecular biology of brain calcification.
25843205 2015 Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene.
25598199 2015 Telomere length in the two extremes of abnormal fetal growth and the programming effect of maternal arterial hypertension.
25483097 2014 Human CST abundance determines recovery from diverse forms of DNA damage and replication stress.
25416956 2014 A proteome-scale map of the human interactome network.
24115768 2013 Molecular basis of telomere syndrome caused by CTC1 mutations.
23869908 2013 Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.
23851344 CST for the grand finale of telomere replication.
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