Property Summary

NCBI Gene PubMed Count 58
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 2.5e-08
adult high grade glioma -1.300 7.2e-04

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.
21951868 Fifteen mutations were reported, including twelve novel and three already described in 14 sporadic patients and in 3 familial cases of Treacher Collins syndrome.
21848650 6 of 12 patients diagnosed with hemifacial microsomia exhibited a novel frameshift mutation c. 4127 ins G in exon 24 in the TCOF1 gene.
20800603 Observational study of gene-disease association. (HuGE Navigator)
20634891 Observational study of gene-disease association. (HuGE Navigator)
20538960 Observational study of gene-disease association. (HuGE Navigator)
20237496 Observational study of gene-disease association. (HuGE Navigator)
20003452 We demonstrated that adult leucocytes and mesenchymal cells from TCS patients present significantly reduced levels of TCOF1
19527688 central repeated domain of treacle binds with RNA polymerase I, while that the treacle C-terminus is involved in rDNA promoter recognition and UBF recruitment.
19067896 The novel mutation of Ala26Val is considered to affect the LisH domain, an important domain of treacle. All of the mutations thus far detected in exon 5 have resulted in frameshift, but a nonsense mutation was detected (Lys159Stop).
19027870 It has been hypothesized that mutations in Tcof1 disrupt ribosome biogenesis to a degree that is insufficient to meet the proliferative needs of the neuroepithelium and neural crest cells.
18688869 TCOF1 may influence risk of cleft palate through maternal transmission.
18688869 Observational study of gene-disease association. (HuGE Navigator)
17786119 These observations strongly suggest that the TCOF1 genetic changes observed in these five patients might be related to oculo-auriculo-vertebral spectrum symptoms.
16801042 A 5-bp deletion in exon 22 of the TCOF1 gene (3469del ACTCT) was found to cause a premature stop codon.
16102917 The -346T allele impairs DNA-binding to the YY1 transcription factor, and this promoter variant represents a candidate allele to explain the clinical variability in patients bearing Treacher Collins syndrome.
15832313 A novel mutation within exon 6A is associated with Treacher Collins syndrome.
15340364 Observational study of genotype prevalence. (HuGE Navigator)
15249688 Results show that treacle is involved in ribosomal DNA gene transcription by interacting with upstream binding factor (UBF).
15039977 In this study we identified a TCOF1 1408delAG heterozygous mutation in a patient with the clinical diagnosis of TCS (treacher collins syndrome).
15019983 Identification of 231-nucleotide(nt) exon 6A and 108-nt exon 16A and isoforms with exon 6A are up to 3.7-fold more abundant than alternatively spliced variants without exon 6A, but only minor isoforms contain exon 16A.
12210332 Patients with Goldenhar, Nager, or Miller syndromes may resemble Treacher-Collins, but are unlikely to have mutations at this locus.
12114482 The identification of a novel pathogenic missense change in exon 2 of the TCOF1 gene suggests that a functionally important domain of treacle exists near the N-terminus.

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.
23838542 2013 A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome.
23695276 2014 Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22729243 2012 Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
22317976 2012 Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.
21951868 2011 Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.
21848650 2012 Facial asymmetry and clinical manifestations in patients with novel insertion of the TCOF1 gene.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20538960 2010 A candidate gene study of obstructive sleep apnea in European Americans and African Americans.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20003452 2009 Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19527688 2009 Treacle recruits RNA polymerase I complex to the nucleolus that is independent of UBF.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19369195 2009 Large-scale proteomics analysis of the human kinome.
19067896 2008 Detection of a novel silent deletion, a missense mutation and a nonsense mutation in TCOF1.
19027870 2009 Treacher Collins syndrome: unmasking the role of Tcof1/treacle.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18688869 2008 Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17924679 2007 Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.
17786119 2007 Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo-auriculo-vertebral spectrum and Treacher-Collins syndrome.
17620599 2007 Functional specialization of beta-arrestin interactions revealed by proteomic analysis.
17525332 2007 ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16964243 2006 A probability-based approach for high-throughput protein phosphorylation analysis and site localization.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16801042 2006 Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene.
16102917 2005 A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction.
15832313 2005 TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15372022 2004 The DNA sequence and comparative analysis of human chromosome 5.
15340364 2004 Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
15302935 2004 Large-scale characterization of HeLa cell nuclear phosphoproteins.
15249688 2004 The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor.
15039977 2004 Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome.
15019983 2004 Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12777385 2003 Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12210332 2002 TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders.
12114482 2002 Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle.
11734546 2001 A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration.
11013442 2000 High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.
10982400 2000 Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome.
10545604 1999 Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle.
9811939 1998 The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus.
9736782 1998 Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle.
9299440 1997 Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18.
9096354 1997 TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.
9074926 1997 Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene.
9042910 1997 The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8563749 1996 Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group.
8488840 1993 Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
1765376 1991 Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3.
1303194 1992 Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2.