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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
TCOF1 6949 Treacher Collins-Franceschetti syndrome 1  5MFD1; TCS1; treacle 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
20089989   2010Cell line : -

Source : VU University Medical Center, Amsterdam, Netherlands.

Sample Type : CRC tumor and normal tissue

No. of Sample : -

Stage : -

Biochemical isolation to nano-LC-MS/MS analysis Unknown--


Gene Details



Chromosome: 5; NC_000005.9 (149737202..149779871)

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Gene Type protein coding
Gene Family -
Description This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]  
Chromosome 5
Location 5q32
Start 150357639  
End 150400308  
Strand +  
Gene Sequence

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Length 42670  
OMIM ID 606847   
HGNC ID HGNC:11654   
Unigene ID Hs.519672   
Ensembl ID ENSG00000070814   
PharmGKB ID -   

mRNA Information


mRNA ID NM_001135243.1
Exon join(1..216,3518..3573,6475..6614,10206..10279, 11078..11264,11891..11964,14368..14598,16536..16748, 16979..17173,17316..17525,17701..17916,18083..18271, 18444..18692,18785..18982,21267..21404,21591..21770, 21894..22094,30264..30450,32249..32385,33906..34019, 34319..34538,35070..35152,35734..35914,38644..39204, 40716..40813,41384..41432,42172..42670)  
mRNA Sequence

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Length 5113  



CDS Information


   
Locationjoin(109..216,3518..3573,6475..6614,10206..10279, 11078..11264,11891..11964,14368..14598,16536..16748, 16979..17173,17316..17525,17701..17916,18083..18271, 18444..18692,18785..18982,21267..21404,21591..21770, 21894..22094,25424..25534,30264..30450,32249..32385, 33906..34019,34319..34538,35067..35152,35734..35914, 38644..39204,40716..40813,41384..41410)
CDS Sequence

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CCDS ID -



Protein Information


      
Protein IDXP_005268563.1
Protein NameTreacher Collins-Franceschetti syndrome 1
Molecular Wt. (Da)152173
Protein Sequence

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Length 1488  
Uniprot IDO60443
Ensembl Protein ID ENSP00000339587  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation1034
SPhosphorylation1151
SPhosphorylation1299
SPhosphorylation1301
SPhosphorylation1394
TPhosphorylation173
SPhosphorylation890
SPhosphorylation1073
SPhosphorylation1190
SPhosphorylation1338
SPhosphorylation1340
SPhosphorylation1433
TPhosphorylation173
SPhosphorylation967
TPhosphorylation173
SPhosphorylation829;-
SPhosphorylation906;-
SPhosphorylation906;-
SPhosphorylation1273;-
SPhosphorylation1312;-
SPhosphorylation1151;-
SPhosphorylation1190;-
SPhosphorylation1301;-
SPhosphorylation1340;-
TPhosphorylation504;-
TPhosphorylation581;-
TPhosphorylation581;-
SPhosphorylation304;-
SPhosphorylation381;-
SPhosphorylation381;-
SPhosphorylation156;-
SPhosphorylation156;-
SPhosphorylation156;-
TPhosphorylation456;-
TPhosphorylation533;-
TPhosphorylation533;-
SPhosphorylation506;-
SPhosphorylation583;-
SPhosphorylation583;-
SPhosphorylation153;-
SPhosphorylation153;-
SPhosphorylation153;-
SPhosphorylation1333;-
SPhosphorylation1372;-
SPhosphorylation531;-
SPhosphorylation533;-
SPhosphorylation534;-
SPhosphorylation537;-
SPhosphorylation538;-
SPhosphorylation540;-
SPhosphorylation543;-
SPhosphorylation608;-
SPhosphorylation610;-
SPhosphorylation611;-
SPhosphorylation614;-
SPhosphorylation615;-
SPhosphorylation617;-
SPhosphorylation620;-
SPhosphorylation608;-
SPhosphorylation610;-
SPhosphorylation611;-
SPhosphorylation614;-
SPhosphorylation615;-
SPhosphorylation617;-
SPhosphorylation620;-
TPhosphorylation609;-
SPhosphorylation616;-
SPhosphorylation617;-
SPhosphorylation618;-
SPhosphorylation619;-
SPhosphorylation622;-
TPhosphorylation686;-
SPhosphorylation693;-
SPhosphorylation694;-
SPhosphorylation695;-
SPhosphorylation696;-
SPhosphorylation699;-
TPhosphorylation686;-
SPhosphorylation693;-
SPhosphorylation694;-
SPhosphorylation695;-
SPhosphorylation696;-
SPhosphorylation699;-
SPhosphorylation233;-
SPhosphorylation233;-
SPhosphorylation800;-
TPhosphorylation785;-
TPhosphorylation779;-
SPhosphorylation813;-
TPhosphorylation806;-
TPhosphorylation856;-
SPhosphorylation890;-
TPhosphorylation883;-
SPhosphorylation877;-
TPhosphorylation862;-
TPhosphorylation856;-
SPhosphorylation890;-
TPhosphorylation883;-
SPhosphorylation877;-
TPhosphorylation862;-
SPhosphorylation794;-
SPhosphorylation798;-
SPhosphorylation875;-
SPhosphorylation871;-
SPhosphorylation875;-
SPhosphorylation871;-
SPhosphorylation793;-
SPhosphorylation791;-
SPhosphorylation868;-
SPhosphorylation870;-
SPhosphorylation868;-
SPhosphorylation870;-
SPhosphorylation164;-
SPhosphorylation164;-
SPhosphorylation164;-
SPhosphorylation198;-
SPhosphorylation200;-
TPhosphorylation203;-
SPhosphorylation204;-
SPhosphorylation205;-
SPhosphorylation206;-
SPhosphorylation207;-
TPhosphorylation210;-
SPhosphorylation198;-
SPhosphorylation200;-
TPhosphorylation203;-
SPhosphorylation204;-
SPhosphorylation205;-
SPhosphorylation206;-
SPhosphorylation207;-
TPhosphorylation210;-
SPhosphorylation88;-
SPhosphorylation83;-
TPhosphorylation84;-
SPhosphorylation85;-
SPhosphorylation87;-
SPhosphorylation88;-
SPhosphorylation83;-
TPhosphorylation84;-
SPhosphorylation85;-
SPhosphorylation87;-
SPhosphorylation88;-
SPhosphorylation83;-
TPhosphorylation84;-
SPhosphorylation85;-
SPhosphorylation87;-
SPhosphorylation398;-
SPhosphorylation400;-
SPhosphorylation401;-
SPhosphorylation402;-
SPhosphorylation405;-
SPhosphorylation407;-
SPhosphorylation482;-
SPhosphorylation484;-
SPhosphorylation475;-
SPhosphorylation477;-
SPhosphorylation478;-
SPhosphorylation479;-
SPhosphorylation482;-
SPhosphorylation484;-
SPhosphorylation475;-
SPhosphorylation477;-
SPhosphorylation478;-
SPhosphorylation479;-
SPhosphorylation171;-
SPhosphorylation171;-
SPhosphorylation171;-
SPhosphorylation505;-
SPhosphorylation582;-
SPhosphorylation582;-
SPhosphorylation298;-
SPhosphorylation375;-
SPhosphorylation375;-
SPhosphorylation920;-
SPhosphorylation913;-
SPhosphorylation915;-
TPhosphorylation916;-
SPhosphorylation919;-
SPhosphorylation992;-
TPhosphorylation993;-
SPhosphorylation996;-
SPhosphorylation997;-
SPhosphorylation990;-
SPhosphorylation922;-
SPhosphorylation924;-
SPhosphorylation921;-
SPhosphorylation1001;-
SPhosphorylation998;-
SPhosphorylation999;-
TPhosphorylation933;-
TPhosphorylation937;-
TPhosphorylation1010;-
TPhosphorylation1014;-
SPhosphorylation1180;-
SPhosphorylation1219;-
SPhosphorylation1150;-
SPhosphorylation1189;-
SPhosphorylation1153;-
SPhosphorylation1192;-
SPhosphorylation864;-
SPhosphorylation855;-
SPhosphorylation857;-
SPhosphorylation858;-
SPhosphorylation859;-
SPhosphorylation862;-
SPhosphorylation932;-
SPhosphorylation934;-
SPhosphorylation935;-
SPhosphorylation936;-
SPhosphorylation939;-
SPhosphorylation941;-
SPhosphorylation1113;-
SPhosphorylation1124;-
SPhosphorylation1152;-
SPhosphorylation1163;-
SPhosphorylation107
SPhosphorylation107
SPhosphorylation107
TPhosphorylation249
TPhosphorylation249
TPhosphorylation233
TPhosphorylation239
TPhosphorylation310
TPhosphorylation316
TPhosphorylation310
TPhosphorylation316
SPhosphorylation369
SPhosphorylation446
SPhosphorylation446
SPhosphorylation426
SPhosphorylation503
SPhosphorylation503
SPhosphorylation685
SPhosphorylation687
SPhosphorylation688
SPhosphorylation692
SPhosphorylation694
SPhosphorylation762
SPhosphorylation764
SPhosphorylation765
SPhosphorylation769
SPhosphorylation771
SPhosphorylation762
SPhosphorylation764
SPhosphorylation765
SPhosphorylation769
SPhosphorylation771
SPhosphorylation700
SPhosphorylation777
SPhosphorylation777
TPhosphorylation1033
SPhosphorylation1037
SPhosphorylation1039
SPhosphorylation1076
TPhosphorylation1102
TPhosphorylation1104
TPhosphorylation1141
TPhosphorylation1143
TPhosphorylation1109
SPhosphorylation1114
TPhosphorylation1148
SPhosphorylation1153
TPhosphorylation1157
TPhosphorylation1196
TPhosphorylation1281
TPhosphorylation1320
SPhosphorylation1330
SPhosphorylation1369
TPhosphorylation1145
TPhosphorylation1184
TPhosphorylation168
TPhosphorylation168
TPhosphorylation168
SPhosphorylation178
SPhosphorylation178
SPhosphorylation178
TPhosphorylation906
TPhosphorylation983
SPhosphorylation1309
SPhosphorylation1348
SPhosphorylation1357
SPhosphorylation1396
SPhosphorylation724
SPhosphorylation801
SPhosphorylation801
TPhosphorylation317
TPhosphorylation394
TPhosphorylation394
SPhosphorylation1284
SPhosphorylation1323
SPhosphorylation707
SPhosphorylation784
SPhosphorylation784
TPhosphorylation144
TPhosphorylation144
TPhosphorylation144
TPhosphorylation728
TPhosphorylation805
TPhosphorylation805
SPhosphorylation227
SPhosphorylation304
SPhosphorylation304
TPhosphorylation837
TPhosphorylation914
TPhosphorylation914
TPhosphorylation1038
KAcetylation678
KAcetylation755
KAcetylation755
KAcetylation523
KAcetylation600
KAcetylation600
KAcetylation219
KAcetylation296
KAcetylation296
KAcetylation155
KAcetylation155
KAcetylation155
KAcetylation1337
KAcetylation1376
TPhosphorylation996
TPhosphorylation586
TPhosphorylation663
TPhosphorylation663
SPhosphorylation333
SPhosphorylation335
SPhosphorylation336
SPhosphorylation337
SPhosphorylation340
SPhosphorylation342
SPhosphorylation410
SPhosphorylation412
SPhosphorylation413
SPhosphorylation414
SPhosphorylation417
SPhosphorylation419
SPhosphorylation410
SPhosphorylation412
SPhosphorylation413
SPhosphorylation414
SPhosphorylation417
SPhosphorylation419
TPhosphorylation897
TPhosphorylation974
SPhosphorylation597
SPhosphorylation674
SPhosphorylation674
TPhosphorylation1305
TPhosphorylation1344
SPhosphorylation478
SPhosphorylation555
SPhosphorylation555
SPhosphorylation479
SPhosphorylation556
SPhosphorylation556
SPhosphorylation472
SPhosphorylation549
SPhosphorylation549
SPhosphorylation624
SPhosphorylation701
SPhosphorylation701
TPhosphorylation1072
SPhosphorylation110
SPhosphorylation110
SPhosphorylation110
TPhosphorylation230
TPhosphorylation230
SPhosphorylation433
SPhosphorylation510
SPhosphorylation510
TPhosphorylation594
TPhosphorylation596
SPhosphorylation601
TPhosphorylation671
TPhosphorylation673
SPhosphorylation678
TPhosphorylation671
TPhosphorylation673
SPhosphorylation678
SPhosphorylation905
SPhosphorylation982
TPhosphorylation1193
TPhosphorylation1232
SPhosphorylation1396
SPhosphorylation1435
TPhosphorylation108
TPhosphorylation108
TPhosphorylation108
TPhosphorylation167
TPhosphorylation167
TPhosphorylation167
TPhosphorylation873
TPhosphorylation950
TPhosphorylation1077
TPhosphorylation147
TPhosphorylation147
TPhosphorylation147

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                                                            
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
1459CSNK2A2279NP_001887.1in vivo10982400   
5111PCNA1456NP_002583.1in vitro12171929   
7343UBTF2814NP_055048.1in vivo;yeast 2-hybrid15249688   
10528NOP5610119NP_006383.2in vitro12777385   


Pathway Information


      
Pathway Name Pathway ID
Ribosome biogenesis in eukaryotes hsa03008


Structure Information


No matching records could be found.

Domain Information




ID Location Description
smart00667Jun-37  LisH
cl23059Jun-37  LisH superfamily
pfam03546387-905  Treacle
pfam03546118-567  Treacle
pfam03546212-510  Treacle
PHA03247157-535  PHA03247
PHA03247234-676  PHA03247
PRK07003234-499  PRK07003
PRK12270385-467  kgd
PRK07003214-463  PRK07003
PRK07764177-465  PRK07764
pfam03546883-948  Treacle
PRK12323309-541  PRK12323
PRK12323250-469  PRK12323
PRK12270378-465  kgd
PRK14951319-456  PRK14951
PRK12323423-605  PRK12323
PRK14951373-467  PRK14951
PRK12323302-495  PRK12323


Ontology Information


   
HPRD ID2303
Molecular ClassTranscription regulatory protein
Molecular FunctionStructural molecule activity (GO:0005198)
Biological ProcessCell growth and/or maintenance (GO:0008151)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
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