TCOF1
entrez
6949
canonical
uniprot
Q13428
canonical
ensembl
ENSG00000070814
resolver
ensp
ENSP00000325223
resolver
ensp
ENSP00000367028
resolver
ensp
ENSP00000377811
resolver
ensp
ENSP00000390717
resolver
ensp
ENSP00000406888
resolver
ensp
ENSP00000409944
resolver
ensp
ENSP00000427484
resolver
ensp
ENSP00000493815
resolver
ensp
ENSP00000497075
resolver
ensp
ENSP00000600599
resolver
ensp
ENSP00000600600
resolver
ensp
ENSP00000600602
resolver
ensp
ENSP00000600603
resolver
ensp
ENSP00000600605
resolver
ensp
ENSP00000600606
resolver
ensp
ENSP00000600607
resolver
ensp
ENSP00000600609
resolver
ensp
ENSP00000600613
resolver
ensp
ENSP00000600614
resolver
ensp
ENSP00000600615
resolver
ensp
ENSP00000600618
resolver
ensp
ENSP00000600619
resolver
ensp
ENSP00000600623
resolver
ensp
ENSP00000600625
resolver
ensp
ENSP00000600626
resolver
ensp
ENSP00000600627
resolver
ensp
ENSP00000600629
resolver
ensp
ENSP00000600631
resolver
ensp
ENSP00000600632
resolver
ensp
ENSP00000600636
resolver
ensp
ENSP00000654497
resolver
ensp
ENSP00000717528
resolver
ensp
ENSP00000748991
resolver
enst
ENST00000513346
resolver
genesymbol
TCOF1
resolver
hgnc
HGNC:11654
resolver
uniprot
A0JLU0
resolver
uniprot
B4DRA2
resolver
uniprot
B4E111
resolver
uniprot
E7ETY2
resolver
uniprot
Q6SC72
resolver
uniprot
Q7Z5W9
resolver
uniprot
Q96A52
resolver
uniprot
Q99408
resolver
uniprot
Q99860
resolver
uniprot_entry
B4DRA2_HUMAN
resolver
uniprot_entry
E7ETY2_HUMAN
resolver
uniprot_entry
TCOF_HUMAN
resolver
uniprot_sec
A0JLU0
resolver
uniprot_sec
B4E111
resolver
uniprot_sec
Q6SC72
resolver
uniprot_sec
Q7Z5W9
resolver
uniprot_sec
Q96A52
resolver
uniprot_sec
Q99408
resolver
uniprot_sec
Q99860
resolver
amino_acid_sequence
MAEARKRRELLPLIYHHLLRAGYVRAAREVKEQSGQKCFLAQPVTLLDIYTHWQQTSELGRKRKAEEDAALQAKKTRVSDPISTSESSEEEEEAEAETAKATPRLASTNSSVLGADLPSSMKEKAKAETEKAGKTGNSMPHPATGKTVANLLSGKSPRKSAEPSANTTLVSETEEEGSVPAFGAAAKPGMVSAGQADSSSEDTSSSSDETDVEGKPSVKPAQVKASSVSTKESPARKAAPAPGKVGDVTPQVKGGALPPAKRAKKPEEESESSEEGSESEEEAPAGTRSQVKASEKILQVRAASAPAKGTPGKGATPAPPGKAGAVASQTKAGKPEEDSESSSEESSDSEEETPAAKALLQAKASGKTSQVGAASAPAKESPRKGAAPAPPGKTGPAVAKAQAGKREEDSQSSSEESDSEEEAPAQAKPSGKAPQVRAASAPAKESPRKGAAPAPPRKTGPAAAQVQVGKQEEDSRSSSEESDSDREALAAMNAAQVKPLGKSPQVKPASTMGMGPLGKGAGPVPPGKVGPATPSAQVGKWEEDSESSSEESSDSSDGEVPTAVAPAQEKSLGNILQAKPTSSPAKGPPQKAGPVAVQVKAEKPMDNSESSEESSDSADSEEAPAAMTAAQAKPALKIPQTKACPKKTNTTASAKVAPVRVGTQAPRKAGTATSPAGSSPAVAGGTQRPAEDSSSSEESDSEEEKTGLAVTVGQAKSVGKGLQVKAASVPVKGSLGQGTAPVLPGKTGPTVTQVKAEKQEDSESSEEESDSEEAAASPAQVKTSVKKTQAKANPAAARAPSAKGTISAPGKVVTAAAQAKQRSPSKVKPPVRNPQNSTVLARGPASVPSVGKAVATAAQAQTGPEEDSGSSEEESDSEEEAETLAQVKPSGKTHQIRAALAPAKESPRKGAAPTPPGKTGPSAAQAGKQDDSGSSSEESDSDGEAPAAVTSAQVIKPPLIFVDPNRSPAGPAATPAQAQAASTPRKARASESTARSSSSESEDEDVIPATQCLTPGIRTNVVTMPTAHPRIAPKASMAGASSSKESSRISDGKKQEGPATQVSKKNPASLPLTQAALKVLAQKASEAQPPVARTQPSSGVDSAVGTLPATSPQSTSVQAKGTNKLRKPKLPEVQQATKAPESSDDSEDSSDSSSGSEEDGEGPQGAKSAHTLGPTPSRTETLVEETAAESSEDDVVAPSQSLLSGYMTPGLTPANSQASKATPKLDSSPSVSSTLAAKDDPDGKQEAKPQQAAGMLSPKTGGKEAASGTTPQKSRKPKKGAGNPQASTLALQSNITQCLLGQPWPLNEAQVQASVVKVLTELLEQERKKVVDTTKESSRKGWESRKRKLSGDQPAARTPRSKKKKKLGAGEGGEASVSPEKTSTTSKGKAKRDKASGDVKEKKGKGSLGSQGAKDEPEEELQKGMGTVEGGDQSNPKSKKEKKKSDKRKKDKEKKEKKKKAKKASTKDSESPSQKKKKKKKKTAEQTV
uniprot
proteins
disease_involvement
DISEASE: Treacher Collins syndrome 1 (TCS1) [MIM:154500]: A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. {ECO:0000269|PubMed:9042910}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (PubMed:12777385, PubMed:26399832). Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832). {ECO:0000269|PubMed:12777385, ECO:0000269|PubMed:26399832}.
uniprot
proteins
mass_dalton
152106
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated. Monoubiquitination by the BCR(KBTBD8) complex promotes the formation of a NOLC1-TCOF1 complex that acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832). {ECO:0000269|PubMed:26399832}.; PTM: Pyrophosphorylated by 5-diphosphoinositol pentakisphosphate (5-IP7). Serine pyrophosphorylation is achieved by Mg(2+)-dependent, but enzyme independent transfer of a beta-phosphate from a inositol pyrophosphate to a pre-phosphorylated serine residue. {ECO:0000250|UniProtKB:O08784}.
uniprot
proteins
pubmed
12777385
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15019983
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
17924679
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
26399832
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
8563749
uniprot
proteins
pubmed
9042910
uniprot
proteins
pubmed
9074926
uniprot
proteins
pubmed
9096354
uniprot
proteins
sequence_length
1488
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12777385}.
uniprot
proteins