Search results:
General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| TCOF1 | 6949 | Treacher Collins-Franceschetti syndrome 1  | 5 | MFD1; 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    | 2010 | Cell 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

| 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 |    Download   Select all |
| 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 |    Download   Select all |
| Length | 5113   |
CDS Information
| Location | join(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 |    Download   Select all |
| CCDS ID | - |    
Protein Information
| Protein ID | XP_005268563.1 |
|---|---|
| Protein Name | Treacher Collins-Franceschetti syndrome 1 |
| Molecular Wt. (Da) | 152173 |
| Protein Sequence |    Download   Select all |
| Length | 1488   |
| Uniprot ID | O60443 |    
| Ensembl Protein ID | ENSP00000339587   |    
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| S | Phosphorylation | 1034 |
| S | Phosphorylation | 1151 |
| S | Phosphorylation | 1299 |
| S | Phosphorylation | 1301 |
| S | Phosphorylation | 1394 |
| T | Phosphorylation | 173 |
| S | Phosphorylation | 890 |
| S | Phosphorylation | 1073 |
| S | Phosphorylation | 1190 |
| S | Phosphorylation | 1338 |
| S | Phosphorylation | 1340 |
| S | Phosphorylation | 1433 |
| T | Phosphorylation | 173 |
| S | Phosphorylation | 967 |
| T | Phosphorylation | 173 |
| S | Phosphorylation | 829;- |
| S | Phosphorylation | 906;- |
| S | Phosphorylation | 906;- |
| S | Phosphorylation | 1273;- |
| S | Phosphorylation | 1312;- |
| S | Phosphorylation | 1151;- |
| S | Phosphorylation | 1190;- |
| S | Phosphorylation | 1301;- |
| S | Phosphorylation | 1340;- |
| T | Phosphorylation | 504;- |
| T | Phosphorylation | 581;- |
| T | Phosphorylation | 581;- |
| S | Phosphorylation | 304;- |
| S | Phosphorylation | 381;- |
| S | Phosphorylation | 381;- |
| S | Phosphorylation | 156;- |
| S | Phosphorylation | 156;- |
| S | Phosphorylation | 156;- |
| T | Phosphorylation | 456;- |
| T | Phosphorylation | 533;- |
| T | Phosphorylation | 533;- |
| S | Phosphorylation | 506;- |
| S | Phosphorylation | 583;- |
| S | Phosphorylation | 583;- |
| S | Phosphorylation | 153;- |
| S | Phosphorylation | 153;- |
| S | Phosphorylation | 153;- |
| S | Phosphorylation | 1333;- |
| S | Phosphorylation | 1372;- |
| S | Phosphorylation | 531;- |
| S | Phosphorylation | 533;- |
| S | Phosphorylation | 534;- |
| S | Phosphorylation | 537;- |
| S | Phosphorylation | 538;- |
| S | Phosphorylation | 540;- |
| S | Phosphorylation | 543;- |
| S | Phosphorylation | 608;- |
| S | Phosphorylation | 610;- |
| S | Phosphorylation | 611;- |
| S | Phosphorylation | 614;- |
| S | Phosphorylation | 615;- |
| S | Phosphorylation | 617;- |
| S | Phosphorylation | 620;- |
| S | Phosphorylation | 608;- |
| S | Phosphorylation | 610;- |
| S | Phosphorylation | 611;- |
| S | Phosphorylation | 614;- |
| S | Phosphorylation | 615;- |
| S | Phosphorylation | 617;- |
| S | Phosphorylation | 620;- |
| T | Phosphorylation | 609;- |
| S | Phosphorylation | 616;- |
| S | Phosphorylation | 617;- |
| S | Phosphorylation | 618;- |
| S | Phosphorylation | 619;- |
| S | Phosphorylation | 622;- |
| T | Phosphorylation | 686;- |
| S | Phosphorylation | 693;- |
| S | Phosphorylation | 694;- |
| S | Phosphorylation | 695;- |
| S | Phosphorylation | 696;- |
| S | Phosphorylation | 699;- |
| T | Phosphorylation | 686;- |
| S | Phosphorylation | 693;- |
| S | Phosphorylation | 694;- |
| S | Phosphorylation | 695;- |
| S | Phosphorylation | 696;- |
| S | Phosphorylation | 699;- |
| S | Phosphorylation | 233;- |
| S | Phosphorylation | 233;- |
| S | Phosphorylation | 800;- |
| T | Phosphorylation | 785;- |
| T | Phosphorylation | 779;- |
| S | Phosphorylation | 813;- |
| T | Phosphorylation | 806;- |
| T | Phosphorylation | 856;- |
| S | Phosphorylation | 890;- |
| T | Phosphorylation | 883;- |
| S | Phosphorylation | 877;- |
| T | Phosphorylation | 862;- |
| T | Phosphorylation | 856;- |
| S | Phosphorylation | 890;- |
| T | Phosphorylation | 883;- |
| S | Phosphorylation | 877;- |
| T | Phosphorylation | 862;- |
| S | Phosphorylation | 794;- |
| S | Phosphorylation | 798;- |
| S | Phosphorylation | 875;- |
| S | Phosphorylation | 871;- |
| S | Phosphorylation | 875;- |
| S | Phosphorylation | 871;- |
| S | Phosphorylation | 793;- |
| S | Phosphorylation | 791;- |
| S | Phosphorylation | 868;- |
| S | Phosphorylation | 870;- |
| S | Phosphorylation | 868;- |
| S | Phosphorylation | 870;- |
| S | Phosphorylation | 164;- |
| S | Phosphorylation | 164;- |
| S | Phosphorylation | 164;- |
| S | Phosphorylation | 198;- |
| S | Phosphorylation | 200;- |
| T | Phosphorylation | 203;- |
| S | Phosphorylation | 204;- |
| S | Phosphorylation | 205;- |
| S | Phosphorylation | 206;- |
| S | Phosphorylation | 207;- |
| T | Phosphorylation | 210;- |
| S | Phosphorylation | 198;- |
| S | Phosphorylation | 200;- |
| T | Phosphorylation | 203;- |
| S | Phosphorylation | 204;- |
| S | Phosphorylation | 205;- |
| S | Phosphorylation | 206;- |
| S | Phosphorylation | 207;- |
| T | Phosphorylation | 210;- |
| S | Phosphorylation | 88;- |
| S | Phosphorylation | 83;- |
| T | Phosphorylation | 84;- |
| S | Phosphorylation | 85;- |
| S | Phosphorylation | 87;- |
| S | Phosphorylation | 88;- |
| S | Phosphorylation | 83;- |
| T | Phosphorylation | 84;- |
| S | Phosphorylation | 85;- |
| S | Phosphorylation | 87;- |
| S | Phosphorylation | 88;- |
| S | Phosphorylation | 83;- |
| T | Phosphorylation | 84;- |
| S | Phosphorylation | 85;- |
| S | Phosphorylation | 87;- |
| S | Phosphorylation | 398;- |
| S | Phosphorylation | 400;- |
| S | Phosphorylation | 401;- |
| S | Phosphorylation | 402;- |
| S | Phosphorylation | 405;- |
| S | Phosphorylation | 407;- |
| S | Phosphorylation | 482;- |
| S | Phosphorylation | 484;- |
| S | Phosphorylation | 475;- |
| S | Phosphorylation | 477;- |
| S | Phosphorylation | 478;- |
| S | Phosphorylation | 479;- |
| S | Phosphorylation | 482;- |
| S | Phosphorylation | 484;- |
| S | Phosphorylation | 475;- |
| S | Phosphorylation | 477;- |
| S | Phosphorylation | 478;- |
| S | Phosphorylation | 479;- |
| S | Phosphorylation | 171;- |
| S | Phosphorylation | 171;- |
| S | Phosphorylation | 171;- |
| S | Phosphorylation | 505;- |
| S | Phosphorylation | 582;- |
| S | Phosphorylation | 582;- |
| S | Phosphorylation | 298;- |
| S | Phosphorylation | 375;- |
| S | Phosphorylation | 375;- |
| S | Phosphorylation | 920;- |
| S | Phosphorylation | 913;- |
| S | Phosphorylation | 915;- |
| T | Phosphorylation | 916;- |
| S | Phosphorylation | 919;- |
| S | Phosphorylation | 992;- |
| T | Phosphorylation | 993;- |
| S | Phosphorylation | 996;- |
| S | Phosphorylation | 997;- |
| S | Phosphorylation | 990;- |
| S | Phosphorylation | 922;- |
| S | Phosphorylation | 924;- |
| S | Phosphorylation | 921;- |
| S | Phosphorylation | 1001;- |
| S | Phosphorylation | 998;- |
| S | Phosphorylation | 999;- |
| T | Phosphorylation | 933;- |
| T | Phosphorylation | 937;- |
| T | Phosphorylation | 1010;- |
| T | Phosphorylation | 1014;- |
| S | Phosphorylation | 1180;- |
| S | Phosphorylation | 1219;- |
| S | Phosphorylation | 1150;- |
| S | Phosphorylation | 1189;- |
| S | Phosphorylation | 1153;- |
| S | Phosphorylation | 1192;- |
| S | Phosphorylation | 864;- |
| S | Phosphorylation | 855;- |
| S | Phosphorylation | 857;- |
| S | Phosphorylation | 858;- |
| S | Phosphorylation | 859;- |
| S | Phosphorylation | 862;- |
| S | Phosphorylation | 932;- |
| S | Phosphorylation | 934;- |
| S | Phosphorylation | 935;- |
| S | Phosphorylation | 936;- |
| S | Phosphorylation | 939;- |
| S | Phosphorylation | 941;- |
| S | Phosphorylation | 1113;- |
| S | Phosphorylation | 1124;- |
| S | Phosphorylation | 1152;- |
| S | Phosphorylation | 1163;- |
| S | Phosphorylation | 107 |
| S | Phosphorylation | 107 |
| S | Phosphorylation | 107 |
| T | Phosphorylation | 249 |
| T | Phosphorylation | 249 |
| T | Phosphorylation | 233 |
| T | Phosphorylation | 239 |
| T | Phosphorylation | 310 |
| T | Phosphorylation | 316 |
| T | Phosphorylation | 310 |
| T | Phosphorylation | 316 |
| S | Phosphorylation | 369 |
| S | Phosphorylation | 446 |
| S | Phosphorylation | 446 |
| S | Phosphorylation | 426 |
| S | Phosphorylation | 503 |
| S | Phosphorylation | 503 |
| S | Phosphorylation | 685 |
| S | Phosphorylation | 687 |
| S | Phosphorylation | 688 |
| S | Phosphorylation | 692 |
| S | Phosphorylation | 694 |
| S | Phosphorylation | 762 |
| S | Phosphorylation | 764 |
| S | Phosphorylation | 765 |
| S | Phosphorylation | 769 |
| S | Phosphorylation | 771 |
| S | Phosphorylation | 762 |
| S | Phosphorylation | 764 |
| S | Phosphorylation | 765 |
| S | Phosphorylation | 769 |
| S | Phosphorylation | 771 |
| S | Phosphorylation | 700 |
| S | Phosphorylation | 777 |
| S | Phosphorylation | 777 |
| T | Phosphorylation | 1033 |
| S | Phosphorylation | 1037 |
| S | Phosphorylation | 1039 |
| S | Phosphorylation | 1076 |
| T | Phosphorylation | 1102 |
| T | Phosphorylation | 1104 |
| T | Phosphorylation | 1141 |
| T | Phosphorylation | 1143 |
| T | Phosphorylation | 1109 |
| S | Phosphorylation | 1114 |
| T | Phosphorylation | 1148 |
| S | Phosphorylation | 1153 |
| T | Phosphorylation | 1157 |
| T | Phosphorylation | 1196 |
| T | Phosphorylation | 1281 |
| T | Phosphorylation | 1320 |
| S | Phosphorylation | 1330 |
| S | Phosphorylation | 1369 |
| T | Phosphorylation | 1145 |
| T | Phosphorylation | 1184 |
| T | Phosphorylation | 168 |
| T | Phosphorylation | 168 |
| T | Phosphorylation | 168 |
| S | Phosphorylation | 178 |
| S | Phosphorylation | 178 |
| S | Phosphorylation | 178 |
| T | Phosphorylation | 906 |
| T | Phosphorylation | 983 |
| S | Phosphorylation | 1309 |
| S | Phosphorylation | 1348 |
| S | Phosphorylation | 1357 |
| S | Phosphorylation | 1396 |
| S | Phosphorylation | 724 |
| S | Phosphorylation | 801 |
| S | Phosphorylation | 801 |
| T | Phosphorylation | 317 |
| T | Phosphorylation | 394 |
| T | Phosphorylation | 394 |
| S | Phosphorylation | 1284 |
| S | Phosphorylation | 1323 |
| S | Phosphorylation | 707 |
| S | Phosphorylation | 784 |
| S | Phosphorylation | 784 |
| T | Phosphorylation | 144 |
| T | Phosphorylation | 144 |
| T | Phosphorylation | 144 |
| T | Phosphorylation | 728 |
| T | Phosphorylation | 805 |
| T | Phosphorylation | 805 |
| S | Phosphorylation | 227 |
| S | Phosphorylation | 304 |
| S | Phosphorylation | 304 |
| T | Phosphorylation | 837 |
| T | Phosphorylation | 914 |
| T | Phosphorylation | 914 |
| T | Phosphorylation | 1038 |
| K | Acetylation | 678 |
| K | Acetylation | 755 |
| K | Acetylation | 755 |
| K | Acetylation | 523 |
| K | Acetylation | 600 |
| K | Acetylation | 600 |
| K | Acetylation | 219 |
| K | Acetylation | 296 |
| K | Acetylation | 296 |
| K | Acetylation | 155 |
| K | Acetylation | 155 |
| K | Acetylation | 155 |
| K | Acetylation | 1337 |
| K | Acetylation | 1376 |
| T | Phosphorylation | 996 |
| T | Phosphorylation | 586 |
| T | Phosphorylation | 663 |
| T | Phosphorylation | 663 |
| S | Phosphorylation | 333 |
| S | Phosphorylation | 335 |
| S | Phosphorylation | 336 |
| S | Phosphorylation | 337 |
| S | Phosphorylation | 340 |
| S | Phosphorylation | 342 |
| S | Phosphorylation | 410 |
| S | Phosphorylation | 412 |
| S | Phosphorylation | 413 |
| S | Phosphorylation | 414 |
| S | Phosphorylation | 417 |
| S | Phosphorylation | 419 |
| S | Phosphorylation | 410 |
| S | Phosphorylation | 412 |
| S | Phosphorylation | 413 |
| S | Phosphorylation | 414 |
| S | Phosphorylation | 417 |
| S | Phosphorylation | 419 |
| T | Phosphorylation | 897 |
| T | Phosphorylation | 974 |
| S | Phosphorylation | 597 |
| S | Phosphorylation | 674 |
| S | Phosphorylation | 674 |
| T | Phosphorylation | 1305 |
| T | Phosphorylation | 1344 |
| S | Phosphorylation | 478 |
| S | Phosphorylation | 555 |
| S | Phosphorylation | 555 |
| S | Phosphorylation | 479 |
| S | Phosphorylation | 556 |
| S | Phosphorylation | 556 |
| S | Phosphorylation | 472 |
| S | Phosphorylation | 549 |
| S | Phosphorylation | 549 |
| S | Phosphorylation | 624 |
| S | Phosphorylation | 701 |
| S | Phosphorylation | 701 |
| T | Phosphorylation | 1072 |
| S | Phosphorylation | 110 |
| S | Phosphorylation | 110 |
| S | Phosphorylation | 110 |
| T | Phosphorylation | 230 |
| T | Phosphorylation | 230 |
| S | Phosphorylation | 433 |
| S | Phosphorylation | 510 |
| S | Phosphorylation | 510 |
| T | Phosphorylation | 594 |
| T | Phosphorylation | 596 |
| S | Phosphorylation | 601 |
| T | Phosphorylation | 671 |
| T | Phosphorylation | 673 |
| S | Phosphorylation | 678 |
| T | Phosphorylation | 671 |
| T | Phosphorylation | 673 |
| S | Phosphorylation | 678 |
| S | Phosphorylation | 905 |
| S | Phosphorylation | 982 |
| T | Phosphorylation | 1193 |
| T | Phosphorylation | 1232 |
| S | Phosphorylation | 1396 |
| S | Phosphorylation | 1435 |
| T | Phosphorylation | 108 |
| T | Phosphorylation | 108 |
| T | Phosphorylation | 108 |
| T | Phosphorylation | 167 |
| T | Phosphorylation | 167 |
| T | Phosphorylation | 167 |
| T | Phosphorylation | 873 |
| T | Phosphorylation | 950 |
| T | Phosphorylation | 1077 |
| T | Phosphorylation | 147 |
| T | Phosphorylation | 147 |
| T | Phosphorylation | 147 |
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 |
|---|---|---|---|---|---|
| 1459 |    CSNK2A2 |    279 |    NP_001887.1 |    in vivo |    10982400    |
| 5111 |    PCNA |    1456 |    NP_002583.1 |    in vitro |    12171929    |
| 7343 |    UBTF |    2814 |    NP_055048.1 |    in vivo;yeast 2-hybrid |    15249688    |
| 10528 |    NOP56 |    10119 |    NP_006383.2 |    in vitro |    12777385    |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Ribosome biogenesis in eukaryotes |    hsa03008 |    
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| smart00667 | Jun-37  | LisH |
| cl23059 | Jun-37  | LisH superfamily |
| pfam03546 | 387-905  | Treacle |
| pfam03546 | 118-567  | Treacle |
| pfam03546 | 212-510  | Treacle |
| PHA03247 | 157-535  | PHA03247 |
| PHA03247 | 234-676  | PHA03247 |
| PRK07003 | 234-499  | PRK07003 |
| PRK12270 | 385-467  | kgd |
| PRK07003 | 214-463  | PRK07003 |
| PRK07764 | 177-465  | PRK07764 |
| pfam03546 | 883-948  | Treacle |
| PRK12323 | 309-541  | PRK12323 |
| PRK12323 | 250-469  | PRK12323 |
| PRK12270 | 378-465  | kgd |
| PRK14951 | 319-456  | PRK14951 |
| PRK12323 | 423-605  | PRK12323 |
| PRK14951 | 373-467  | PRK14951 |
| PRK12323 | 302-495  | PRK12323 |
Ontology Information
| HPRD ID | 2303 |    
|---|---|
| Molecular Class | Transcription regulatory protein |
| Molecular Function | Structural molecule activity (GO:0005198) |
| Biological Process | Cell growth and/or maintenance (GO:0008151)   |
Drug Information
No matching records could be found.
External Links
| ArrayExpress | GO |    
|---|---|
| ICGC | GO |    
| Cancer3D | GO |    
| COSMIC | GO |    
| NCG | GO |    
| TSGene | GO |    
| Tumor Gene Family of Databases | GO |    
| CCDB | GO |    
| G2SBC | GO |    
| Osteosarcoma Database | GO |    
| RCDB | GO |    
