RBP Type
Non-canonical_RBPs
Diseases
Drug
N.A.
Main interacting RNAs
rRNA
Moonlighting functions
N.A.
Localizations
N.A.
BulkPerturb-seq
N.A.
Ensembl ID ENSG00000070814 Gene ID
6949 Accession
11654
Symbol
TCOF1
Alias
TCS;MFD1;TCS1;treacle
Full Name
treacle ribosome biogenesis factor 1
Status
Confidence
Length
42680 bases
Strand
Plus strand
Position
5 : 150357629 - 150400308
RNA binding domain
N.A.
Summary
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]
RNA binding domains (RBDs)
Protein
Domain
Pfam ID
E-value
Domain number
RNA binding proteomes (RBPomes)
Pubmed ID
Full Name
Cell
Author
Time
Doi
Literatures on RNA binding capacity
Pubmed ID
Title
Author
Time
Journal
31649276 POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
Elodie Sanchez
2020-03-01
Genetics in medicine : official journal of the American College of Medical Genetics
24942156 Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
W Karen Gripp
2014-09-01
American journal of medical genetics. Part A
29999490 Multisite dependency of an E3 ligase controls monoubiquitylation-dependent cell fate decisions.
Achim Werner
2018-07-12
eLife
25064736 The NBS1-Treacle complex controls ribosomal RNA transcription in response to DNA damage.
H Dorthe Larsen
2014-08-01
Nature cell biology
21951868 Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.
Chiara Conte
2011-09-27
BMC medical genetics
Name
Transcript ID
bp
Protein
Translation ID
TCOF1-219
ENST00000650162
4194
1358aa
ENSP00000497075
TCOF1-202
ENST00000377797
5095
1488aa
ENSP00000367028
TCOF1-206
ENST00000445265
4825
1412aa
ENSP00000409944
TCOF1-201
ENST00000323668
4832
1411aa
ENSP00000325223
TCOF1-216
ENST00000643257
5026
1489aa
ENSP00000493815
TCOF1-218
ENST00000646961
935
297aa
ENSP00000496754
TCOF1-212
ENST00000513538
3526
994aa
ENSP00000422567
TCOF1-205
ENST00000439160
4644
1451aa
ENSP00000406888
TCOF1-203
ENST00000394269
3400
958aa
ENSP00000377811
TCOF1-204
ENST00000427724
4800
1450aa
ENSP00000390717
TCOF1-207
ENST00000504761
4467
1488aa
ENSP00000421655
TCOF1-211
ENST00000513346
4646
1488aa
ENSP00000427484
TCOF1-217
ENST00000643812
974
108aa
ENSP00000493833
TCOF1-215
ENST00000515516
661
188aa
ENSP00000426471
TCOF1-214
ENST00000515035
5240
No protein
-
TCOF1-220
ENST00000674413
3726
1240aa
ENSP00000501343
TCOF1-213
ENST00000514442
5195
No protein
-
TCOF1-208
ENST00000506063
526
No protein
-
TCOF1-210
ENST00000506767
869
148aa
ENSP00000426587
TCOF1-209
ENST00000506630
897
No protein
-
Pathway ID
Pathway Name
Source
ensgID
Trait
pValue
Pubmed ID
ensgID SNP Chromosome Position
Trait PubmedID Or or BEAT
EFO ID
Protein-Protein Interaction (PPI)
Ensembl ID
Source
Target
Species
Protein ID
Perc_pos
Perc_id
Species
Protein ID
Perc_pos
Perc_id
ENSG00000070814
Ensembl ID
Source
Target
Species
Protein ID
Perc_pos
Perc_id
Species
Protein ID
Perc_pos
Perc_id
ENSG00000070814 homo_sapiens ENSP00000493815 87.9785 86.5682 nomascus_leucogenys ENSNLEP00000012588 89.2979 87.8664 ENSG00000070814 homo_sapiens ENSP00000493815 87.1726 86.4338 pan_paniscus ENSPPAP00000030386 89.9515 89.1892 ENSG00000070814 homo_sapiens ENSP00000493815 97.5151 96.7764 pongo_abelii ENSPPYP00000039589 95.0884 94.368 ENSG00000070814 homo_sapiens ENSP00000493815 98.3882 98.1195 pan_troglodytes ENSPTRP00000068671 96.0656 95.8033 ENSG00000070814 homo_sapiens ENSP00000493815 96.3062 96.0376 gorilla_gorilla ENSGGOP00000041929 99.0331 98.7569 ENSG00000070814 homo_sapiens ENSP00000493815 47.4144 34.2512 ornithorhynchus_anatinus ENSOANP00000042912 37.3347 26.9699 ENSG00000070814 homo_sapiens ENSP00000493815 40.4298 27.4009 sarcophilus_harrisii ENSSHAP00000021148 33.6501 22.806 ENSG00000070814 homo_sapiens ENSP00000493815 71.2559 63.5326 dasypus_novemcinctus ENSDNOP00000009653 70.0793 62.4835 ENSG00000070814 homo_sapiens ENSP00000493815 40.1612 34.3855 erinaceus_europaeus ENSEEUP00000013352 44.6936 38.2661 ENSG00000070814 homo_sapiens ENSP00000493815 45.8026 39.8925 echinops_telfairi ENSETEP00000006388 50.3321 43.8376 ENSG00000070814 homo_sapiens ENSP00000493815 86.8368 83.4117 callithrix_jacchus ENSCJAP00000062302 85.9136 82.5249 ENSG00000070814 homo_sapiens ENSP00000493815 94.4258 92.8811 cercocebus_atys ENSCATP00000016431 92.2572 90.748 ENSG00000070814 homo_sapiens ENSP00000493815 91.135 89.7918 macaca_fascicularis ENSMFAP00000058613 81.5505 80.3486 ENSG00000070814 homo_sapiens ENSP00000493815 91.6051 90.2619 macaca_mulatta ENSMMUP00000077362 82.5666 81.3559 ENSG00000070814 homo_sapiens ENSP00000493815 94.4258 93.0154 macaca_nemestrina ENSMNEP00000029270 92.2572 90.8793 ENSG00000070814 homo_sapiens ENSP00000493815 94.6944 93.2841 papio_anubis ENSPANP00000052919 92.5197 91.1417 ENSG00000070814 homo_sapiens ENSP00000493815 94.2243 92.7468 mandrillus_leucophaeus ENSMLEP00000022799 94.4781 92.9966 ENSG00000070814 homo_sapiens ENSP00000493815 63.2639 57.6897 tursiops_truncatus ENSTTRP00000012360 72.7975 66.3833 ENSG00000070814 homo_sapiens ENSP00000493815 71.9946 64.9429 vulpes_vulpes ENSVVUP00000009934 67.8911 61.2413 ENSG00000070814 homo_sapiens ENSP00000493815 60.5104 52.317 mus_spretus MGP_SPRETEiJ_P0048783 65.6227 56.7371 ENSG00000070814 homo_sapiens ENSP00000493815 72.2633 64.9429 equus_asinus ENSEASP00005052781 66.5842 59.8391 ENSG00000070814 homo_sapiens ENSP00000493815 71.2559 63.3311 capra_hircus ENSCHIP00000003682 73.122 64.9897 ENSG00000070814 homo_sapiens ENSP00000493815 67.8308 60.9134 loxodonta_africana ENSLAFP00000017111 74.2101 66.6422 ENSG00000070814 homo_sapiens ENSP00000493815 73.0692 66.8234 panthera_leo ENSPLOP00000004680 77.3826 70.7681 ENSG00000070814 homo_sapiens ENSP00000493815 73.2035 65.9503 ailuropoda_melanoleuca ENSAMEP00000004999 71.7105 64.6053 ENSG00000070814 homo_sapiens ENSP00000493815 71.3902 63.5997 bos_indicus_hybrid ENSBIXP00005038459 72.9081 64.952 ENSG00000070814 homo_sapiens ENSP00000493815 71.726 65.2115 oryctolagus_cuniculus ENSOCUP00000003342 71.5818 65.0804 ENSG00000070814 homo_sapiens ENSP00000493815 72.2633 65.0101 equus_caballus ENSECAP00000060282 64.4697 57.9988 ENSG00000070814 homo_sapiens ENSP00000493815 72.0618 65.5473 canis_lupus_familiaris ENSCAFP00845010034 71.5811 65.1101 ENSG00000070814 homo_sapiens ENSP00000493815 58.8986 51.3768 marmota_marmota_marmota ENSMMMP00000022252 68.143 59.4406 ENSG00000070814 homo_sapiens ENSP00000493815 74.0766 67.4278 balaenoptera_musculus ENSBMSP00010002872 77.5668 70.6048 ENSG00000070814 homo_sapiens ENSP00000493815 68.6367 60.7119 cavia_porcellus ENSCPOP00000002489 63.8351 56.4647 ENSG00000070814 homo_sapiens ENSP00000493815 73.1363 67.0248 felis_catus ENSFCAP00000058435 77.3987 70.9311 ENSG00000070814 homo_sapiens ENSP00000493815 69.9127 62.1894 ursus_americanus ENSUAMP00000032942 75.2711 66.9559 ENSG00000070814 homo_sapiens ENSP00000493815 69.1068 61.585 bison_bison_bison ENSBBBP00000015521 72.7208 64.8057 ENSG00000070814 homo_sapiens ENSP00000493815 72.3304 64.6071 monodon_monoceros ENSMMNP00015003201 72.185 64.4772 ENSG00000070814 homo_sapiens ENSP00000493815 61.0477 52.3842 sus_scrofa ENSSSCP00000066928 64.975 55.7541 ENSG00000070814 homo_sapiens ENSP00000493815 71.8603 65.8831 microcebus_murinus ENSMICP00000035903 75.565 69.2797 ENSG00000070814 homo_sapiens ENSP00000493815 57.5554 49.6978 octodon_degus ENSODEP00000007198 68.0699 58.7768 ENSG00000070814 homo_sapiens ENSP00000493815 70.7858 63.0625 ovis_aries_rambouillet ENSOARP00020016244 72.5895 64.6694 ENSG00000070814 homo_sapiens ENSP00000493815 68.0322 61.0477 ursus_maritimus ENSUMAP00000005107 72.2024 64.7897 ENSG00000070814 homo_sapiens ENSP00000493815 64.6743 57.5554 ochotona_princeps ENSOPRP00000007676 70.4462 62.692 ENSG00000070814 homo_sapiens ENSP00000493815 71.9946 64.3385 delphinapterus_leucas ENSDLEP00000006429 71.8981 64.2522 ENSG00000070814 homo_sapiens ENSP00000493815 40.9671 36.6689 physeter_catodon ENSPCTP00005000909 68.4624 61.2795 ENSG00000070814 homo_sapiens ENSP00000493815 60.2418 52.0484 mus_caroli MGP_CAROLIEiJ_P0046834 65.2364 56.3636 ENSG00000070814 homo_sapiens ENSP00000493815 60.5104 52.5185 mus_musculus ENSMUSP00000135639 66.4454 57.6696 ENSG00000070814 homo_sapiens ENSP00000493815 55.3392 49.6978 mustela_putorius_furo ENSMPUP00000000440 72.7915 65.371 ENSG00000070814 homo_sapiens ENSP00000493815 63.1968 56.2794 mustela_putorius_furo ENSMPUP00000013688 72.6641 64.7104 ENSG00000070814 homo_sapiens ENSP00000493815 82.2028 78.3076 aotus_nancymaae ENSANAP00000019635 87.2416 83.1076 ENSG00000070814 homo_sapiens ENSP00000493815 88.6501 85.4265 saimiri_boliviensis_boliviensis ENSSBOP00000020200 86.8993 83.7393 ENSG00000070814 homo_sapiens ENSP00000493815 93.8214 92.2767 chlorocebus_sabaeus ENSCSAP00000007758 91.6667 90.1575 ENSG00000070814 homo_sapiens ENSP00000493815 41.5715 37.7435 tupaia_belangeri ENSTBEP00000003838 45.6827 41.476 ENSG00000070814 homo_sapiens ENSP00000493815 59.7045 51.3096 mesocricetus_auratus ENSMAUP00000000729 67.9144 58.3652 ENSG00000070814 homo_sapiens ENSP00000493815 73.5393 66.4204 phocoena_sinus ENSPSNP00000023005 77.3305 69.8446 ENSG00000070814 homo_sapiens ENSP00000493815 74.3452 66.5547 camelus_dromedarius ENSCDRP00005002978 75.7182 67.7839 ENSG00000070814 homo_sapiens ENSP00000493815 66.2189 60.1075 carlito_syrichta ENSTSYP00000014474 71.3459 64.7612 ENSG00000070814 homo_sapiens ENSP00000493815 60.8462 53.3915 rattus_norvegicus ENSRNOP00000045755 66.8142 58.6283 ENSG00000070814 homo_sapiens ENSP00000493815 77.3002 71.7932 prolemur_simus ENSPSMP00000034509 81.4579 75.6546 ENSG00000070814 homo_sapiens ENSP00000493815 54.1303 46.407 microtus_ochrogaster ENSMOCP00000007313 68.8889 59.0598 ENSG00000070814 homo_sapiens ENSP00000493815 71.2559 63.5326 bos_mutus ENSBMUP00000017155 72.7709 64.8834 ENSG00000070814 homo_sapiens ENSP00000493815 60.6447 52.5185 mus_spicilegus ENSMSIP00000001777 66.3971 57.5 ENSG00000070814 homo_sapiens ENSP00000493815 60.6447 52.5856 cricetulus_griseus_chok1gshd ENSCGRP00001007261 68.0995 59.0498 ENSG00000070814 homo_sapiens ENSP00000493815 63.2639 56.8838 pteropus_vampyrus ENSPVAP00000005127 63.3917 56.9987 ENSG00000070814 homo_sapiens ENSP00000493815 62.9953 56.2122 myotis_lucifugus ENSMLUP00000012077 73.3959 65.493 ENSG00000070814 homo_sapiens ENSP00000493815 35.1242 31.8334 myotis_lucifugus ENSMLUP00000008094 70.1072 63.5389 ENSG00000070814 homo_sapiens ENSP00000493815 41.6387 28.4755 vombatus_ursinus ENSVURP00010010052 33.5498 22.9437 ENSG00000070814 homo_sapiens ENSP00000493815 67.3606 59.9731 rhinolophus_ferrumequinum ENSRFEP00010021482 74.3514 66.1972 ENSG00000070814 homo_sapiens ENSP00000493815 70.45 63.4654 neovison_vison ENSNVIP00000001171 75.522 68.0346 ENSG00000070814 homo_sapiens ENSP00000493815 71.323 63.4654 bos_taurus ENSBTAP00000020259 72.8395 64.8148 ENSG00000070814 homo_sapiens ENSP00000493815 72.1289 63.9355 heterocephalus_glaber_female ENSHGLP00000050826 58.4967 51.8519 ENSG00000070814 homo_sapiens ENSP00000493815 92.2095 90.3291 rhinopithecus_bieti ENSRBIP00000018154 92.5202 90.6334 ENSG00000070814 homo_sapiens ENSP00000493815 70.3157 64.137 canis_lupus_dingo ENSCAFP00020030304 71.9093 65.5907 ENSG00000070814 homo_sapiens ENSP00000493815 65.2787 58.227 sciurus_vulgaris ENSSVLP00005008593 71.0526 63.3772 ENSG00000070814 homo_sapiens ENSP00000493815 35.3929 24.1773 phascolarctos_cinereus ENSPCIP00000046748 35.9727 24.5734 ENSG00000070814 homo_sapiens ENSP00000493815 59.2344 52.6528 procavia_capensis ENSPCAP00000013361 63.0901 56.0801 ENSG00000070814 homo_sapiens ENSP00000493815 58.4285 50.5037 nannospalax_galili ENSNGAP00000007791 69.992 60.4988 ENSG00000070814 homo_sapiens ENSP00000493815 70.7186 62.9281 bos_grunniens ENSBGRP00000035612 71.8771 63.959 ENSG00000070814 homo_sapiens ENSP00000493815 64.8086 56.7495 chinchilla_lanigera ENSCLAP00000015410 64.4623 56.4462 ENSG00000070814 homo_sapiens ENSP00000493815 71.7932 64.2713 cervus_hanglu_yarkandensis ENSCHYP00000007921 66.6875 59.7006 ENSG00000070814 homo_sapiens ENSP00000493815 51.5782 44.3251 catagonus_wagneri ENSCWAP00000013943 66.899 57.4913 ENSG00000070814 homo_sapiens ENSP00000493815 71.5917 64.54 ictidomys_tridecemlineatus ENSSTOP00000008058 73.2646 66.0481 ENSG00000070814 homo_sapiens ENSP00000493815 70.9201 65.2787 otolemur_garnettii ENSOGAP00000004130 75.4286 69.4286 ENSG00000070814 homo_sapiens ENSP00000493815 85.0235 81.5312 cebus_imitator ENSCCAP00000031848 88.967 85.3127 ENSG00000070814 homo_sapiens ENSP00000493815 72.0618 64.8086 urocitellus_parryii ENSUPAP00010015749 73.7964 66.3686 ENSG00000070814 homo_sapiens ENSP00000493815 70.9201 63.2639 moschus_moschiferus ENSMMSP00000002717 72.9786 65.1002 ENSG00000070814 homo_sapiens ENSP00000493815 94.8287 92.9483 rhinopithecus_roxellana ENSRROP00000020240 92.7118 90.8733 ENSG00000070814 homo_sapiens ENSP00000493815 59.8388 52.0484 mus_pahari MGP_PahariEiJ_P0039419 65.708 57.1534 ENSG00000070814 homo_sapiens ENSP00000493815 72.1961 66.3533 propithecus_coquereli ENSPCOP00000011729 75.3857 69.2847 ENSG00000070814 homo_sapiens ENSP00000493815 17.73 10.141 danio_rerio ENSDARP00000106768 42.0382 24.0446 ENSG00000070814 homo_sapiens ENSP00000493815 27.1323 18.7374 chrysemys_picta_bellii ENSCPBP00000013478 37.5814 25.9535 ENSG00000070814 homo_sapiens ENSP00000493815 19.7448 13.9691 sphenodon_punctatus ENSSPUP00000013517 45.092 31.9018 ENSG00000070814 homo_sapiens ENSP00000493815 29.0128 19.1404 gallus_gallus ENSGALP00010019275 39.0597 25.7685 ENSG00000070814 homo_sapiens ENSP00000493815 25.8563 16.1854 meleagris_gallopavo ENSMGAP00000006681 41.6216 26.0541 ENSG00000070814 homo_sapiens ENSP00000493815 27.5353 17.8643 parus_major ENSPMJP00000010281 40.8367 26.494 ENSG00000070814 homo_sapiens ENSP00000493815 22.1625 15.1108 podarcis_muralis ENSPMRP00000010582 38.6417 26.3466 ENSG00000070814 homo_sapiens ENSP00000493815 27.8039 17.73 taeniopygia_guttata ENSTGUP00000000888 40.0774 25.5566 ENSG00000070814 homo_sapiens ENSP00000493815 26.5279 16.7898 salvator_merianae ENSSMRP00000021962 38.0173 24.0616 ENSG00000070814 homo_sapiens ENSP00000493815 26.9308 18.2673 gopherus_evgoodei ENSGEVP00005021231 37.7234 25.588 ENSG00000070814 homo_sapiens ENSP00000493815 26.0578 17.0584 struthio_camelus_australis ENSSCUP00000003841 38.2266 25.0246 ENSG00000070814 homo_sapiens ENSP00000493815 26.4607 17.2599 anser_brachyrhynchus ENSABRP00000020478 38.3642 25.0243 ENSG00000070814 homo_sapiens ENSP00000493815 22.9684 15.5809 strigops_habroptila ENSSHBP00005007022 39.3556 26.6974 ENSG00000070814 homo_sapiens ENSP00000493815 27.4009 18.4016 terrapene_carolina_triunguis ENSTMTP00000030788 37.9535 25.4884 ENSG00000070814 homo_sapiens ENSP00000493815 24.8489 16.5212 aquila_chrysaetos_chrysaetos ENSACCP00020020224 40.8389 27.1523 ENSG00000070814 homo_sapiens ENSP00000493815 27.8711 17.7972 coturnix_japonica ENSCJPP00005007085 42.2607 26.9857
Go ID
Go term
No. evidence
Entries
Species
Category
GO:0001501 involved_in skeletal system development 1 TAS Homo_sapiens(9606) Process GO:0001650 located_in fibrillar center 1 IDA Homo_sapiens(9606) Component GO:0003723 enables RNA binding 1 HDA Homo_sapiens(9606) Function GO:0005515 enables protein binding 1 IPI Homo_sapiens(9606) Function GO:0005654 located_in nucleoplasm 1 IDA Homo_sapiens(9606) Component GO:0005730 is_active_in nucleolus 2 IBA,IDA Homo_sapiens(9606) Component GO:0005829 located_in cytosol 1 IDA Homo_sapiens(9606) Component GO:0006417 involved_in regulation of translation 1 IMP Homo_sapiens(9606) Process GO:0014029 involved_in neural crest formation 1 IMP Homo_sapiens(9606) Process GO:0014032 involved_in neural crest cell development 1 IMP Homo_sapiens(9606) Process GO:0030674 enables protein-macromolecule adaptor activity 1 IDA Homo_sapiens(9606) Function GO:0042790 involved_in nucleolar large rRNA transcription by RNA polymerase I 1 IBA Homo_sapiens(9606) Process GO:0046982 enables protein heterodimerization activity 1 IPI Homo_sapiens(9606) Function GO:0097110 enables scaffold protein binding 2 IBA,IPI Homo_sapiens(9606) Function
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