Property Summary

NCBI Gene PubMed Count 58
Grant Count 350
R01 Count 113
Funding $105,292,886.87
PubMed Score 2443.38
PubTator Score 177.12

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
malignant mesothelioma 2.800 0.000
adult high grade glioma -1.300 0.001

Synonym

Accession Q13428 A0JLU0 B4E111 Q6SC72 Q7Z5W9 Q96A52 Q99408 Q99860
Symbols TCS
MFD1
TCS1
treacle

Gene

Gene RIF (32)

PMID Text
26362536 HIV-1 Gag interacts with TCOF1 as demonstrated by proximity dependent biotinylation proteomics
25790162 We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS.
25512513 findings identify TCOF1 as a DDR factor that could cooperate with ATM and NBS1 to suppress inappropriate rDNA transcription and maintain genomic integrity after DNA damage.
25064736 Treacle-mediated NBS1 recruitment into the nucleoli regulates rRNA silencing in trans in the presence of distant chromosome breaks.
24690222 Mutations in TCOF1, POLR1C and POLR1D have all been implicated in causing TCS
24603435 Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
23838542 TCOF1 genetic mutation can be a cause of Treacher Collins syndrome in Chinese patients.
23695276 we describe for the first time, two patients with MFD and ID and for whom a deletion encompassing TCOF1 and CAMK2A has been identified
22729243 Presents the case of a male with Treacher Collins syndrome with a heterozygous de novo frameshift mutation within the TCOF1 gene (c.790_791delAG,p.Ser264GlnfsX7), as well as findings from three other individuals from two families with the same mutation.
22317976 Gene rearrangements in TCOF1 are responsible for Treacher-Collins-Franceschetti syndrome.
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AA Sequence

MAEARKRRELLPLIYHHLLRAGYVRAAREVKEQSGQKCFLAQPVTLLDIYTHWQQTSELGRKRKAEEDAA      1 - 70
LQAKKTRVSDPISTSESSEEEEEAEAETAKATPRLASTNSSVLGADLPSSMKEKAKAETEKAGKTGNSMP     71 - 140
HPATGKTVANLLSGKSPRKSAEPSANTTLVSETEEEGSVPAFGAAAKPGMVSAGQADSSSEDTSSSSDET    141 - 210
DVEGKPSVKPAQVKASSVSTKESPARKAAPAPGKVGDVTPQVKGGALPPAKRAKKPEEESESSEEGSESE    211 - 280
EEAPAGTRSQVKASEKILQVRAASAPAKGTPGKGATPAPPGKAGAVASQTKAGKPEEDSESSSEESSDSE    281 - 350
EETPAAKALLQAKASGKTSQVGAASAPAKESPRKGAAPAPPGKTGPAVAKAQAGKREEDSQSSSEESDSE    351 - 420
EEAPAQAKPSGKAPQVRAASAPAKESPRKGAAPAPPRKTGPAAAQVQVGKQEEDSRSSSEESDSDREALA    421 - 490
AMNAAQVKPLGKSPQVKPASTMGMGPLGKGAGPVPPGKVGPATPSAQVGKWEEDSESSSEESSDSSDGEV    491 - 560
PTAVAPAQEKSLGNILQAKPTSSPAKGPPQKAGPVAVQVKAEKPMDNSESSEESSDSADSEEAPAAMTAA    561 - 630
QAKPALKIPQTKACPKKTNTTASAKVAPVRVGTQAPRKAGTATSPAGSSPAVAGGTQRPAEDSSSSEESD    631 - 700
SEEEKTGLAVTVGQAKSVGKGLQVKAASVPVKGSLGQGTAPVLPGKTGPTVTQVKAEKQEDSESSEEESD    701 - 770
SEEAAASPAQVKTSVKKTQAKANPAAARAPSAKGTISAPGKVVTAAAQAKQRSPSKVKPPVRNPQNSTVL    771 - 840
ARGPASVPSVGKAVATAAQAQTGPEEDSGSSEEESDSEEEAETLAQVKPSGKTHQIRAALAPAKESPRKG    841 - 910
AAPTPPGKTGPSAAQAGKQDDSGSSSEESDSDGEAPAAVTSAQVIKPPLIFVDPNRSPAGPAATPAQAQA    911 - 980
ASTPRKARASESTARSSSSESEDEDVIPATQCLTPGIRTNVVTMPTAHPRIAPKASMAGASSSKESSRIS    981 - 1050
DGKKQEGPATQVSKKNPASLPLTQAALKVLAQKASEAQPPVARTQPSSGVDSAVGTLPATSPQSTSVQAK   1051 - 1120
GTNKLRKPKLPEVQQATKAPESSDDSEDSSDSSSGSEEDGEGPQGAKSAHTLGPTPSRTETLVEETAAES   1121 - 1190
SEDDVVAPSQSLLSGYMTPGLTPANSQASKATPKLDSSPSVSSTLAAKDDPDGKQEAKPQQAAGMLSPKT   1191 - 1260
GGKEAASGTTPQKSRKPKKGAGNPQASTLALQSNITQCLLGQPWPLNEAQVQASVVKVLTELLEQERKKV   1261 - 1330
VDTTKESSRKGWESRKRKLSGDQPAARTPRSKKKKKLGAGEGGEASVSPEKTSTTSKGKAKRDKASGDVK   1331 - 1400
EKKGKGSLGSQGAKDEPEEELQKGMGTVEGGDQSNPKSKKEKKKSDKRKKDKEKKEKKKKAKKASTKDSE   1401 - 1470
SPSQKKKKKKKKTAEQTV                                                       1471 - 1488
//

Text Mined References (78)

PMID Year Title
25790162 2016 Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
25772364 2015 SUMO-2 Orchestrates Chromatin Modifiers in Response to DNA Damage.
25755297 2015 System-wide Analysis of SUMOylation Dynamics in Response to Replication Stress Reveals Novel Small Ubiquitin-like Modified Target Proteins and Acceptor Lysines Relevant for Genome Stability.
25512513 2014 Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response.
25218447 2014 Uncovering global SUMOylation signaling networks in a site-specific manner.
25114211 2014 Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.
25064736 2014 The NBS1-Treacle complex controls ribosomal RNA transcription in response to DNA damage.
24690222 2014 Treacher Collins Syndrome: the genetics of a craniofacial disease.
24603435 2014 Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
More...