KEGG   Homo sapiens (human): 6949Help
Entry
6949              CDS       T01001                                 

Gene name
TCOF1, MFD1, TCS, TCS1, treacle
Definition
(RefSeq) treacle ribosome biogenesis factor 1
  KO
K14562  
Treacher Collins syndrome protein
Organism
hsa  Homo sapiens (human)
Pathway
Ribosome biogenesis in eukaryotes
Disease
H00610  
Treacher Collins syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Genetic Information Processing
  Translation
   03008 Ribosome biogenesis in eukaryotes
    6949 (TCOF1)
Ribosome biogenesis [BR:hsa03009]
 Eukaryotic Type
  90S particles
   Other 90S particles
    6949 (TCOF1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
Q13428(Tbio)
UniProt: 
Position
5q32-q33.1
AA seq 1488 aa AA seqDB search
MAEARKRRELLPLIYHHLLRAGYVRAAREVKEQSGQKCFLAQPVTLLDIYTHWQQTSELG
RKRKAEEDAALQAKKTRVSDPISTSESSEEEEEAEAETAKATPRLASTNSSVLGADLPSS
MKEKAKAETEKAGKTGNSMPHPATGKTVANLLSGKSPRKSAEPSANTTLVSETEEEGSVP
AFGAAAKPGMVSAGQADSSSEDTSSSSDETDVEGKPSVKPAQVKASSVSTKESPARKAAP
APGKVGDVTPQVKGGALPPAKRAKKPEEESESSEEGSESEEEAPAGTRSQVKASEKILQV
RAASAPAKGTPGKGATPAPPGKAGAVASQTKAGKPEEDSESSSEESSDSEEETPAAKALL
QAKASGKTSQVGAASAPAKESPRKGAAPAPPGKTGPAVAKAQAGKREEDSQSSSEESDSE
EEAPAQAKPSGKAPQVRAASAPAKESPRKGAAPAPPRKTGPAAAQVQVGKQEEDSRSSSE
ESDSDREALAAMNAAQVKPLGKSPQVKPASTMGMGPLGKGAGPVPPGKVGPATPSAQVGK
WEEDSESSSEESSDSSDGEVPTAVAPAQEKSLGNILQAKPTSSPAKGPPQKAGPVAVQVK
AEKPMDNSESSEESSDSADSEEAPAAMTAAQAKPALKIPQTKACPKKTNTTASAKVAPVR
VGTQAPRKAGTATSPAGSSPAVAGGTQRPAEDSSSSEESDSEEEKTGLAVTVGQAKSVGK
GLQVKAASVPVKGSLGQGTAPVLPGKTGPTVTQVKAEKQEDSESSEEESDSEEAAASPAQ
VKTSVKKTQAKANPAAARAPSAKGTISAPGKVVTAAAQAKQRSPSKVKPPVRNPQNSTVL
ARGPASVPSVGKAVATAAQAQTGPEEDSGSSEEESDSEEEAETLAQVKPSGKTHQIRAAL
APAKESPRKGAAPTPPGKTGPSAAQAGKQDDSGSSSEESDSDGEAPAAVTSAQVIKPPLI
FVDPNRSPAGPAATPAQAQAASTPRKARASESTARSSSSESEDEDVIPATQCLTPGIRTN
VVTMPTAHPRIAPKASMAGASSSKESSRISDGKKQEGPATQVSKKNPASLPLTQAALKVL
AQKASEAQPPVARTQPSSGVDSAVGTLPATSPQSTSVQAKGTNKLRKPKLPEVQQATKAP
ESSDDSEDSSDSSSGSEEDGEGPQGAKSAHTLGPTPSRTETLVEETAAESSEDDVVAPSQ
SLLSGYMTPGLTPANSQASKATPKLDSSPSVSSTLAAKDDPDGKQEAKPQQAAGMLSPKT
GGKEAASGTTPQKSRKPKKGAGNPQASTLALQSNITQCLLGQPWPLNEAQVQASVVKVLT
ELLEQERKKVVDTTKESSRKGWESRKRKLSGDQPAARTPRSKKKKKLGAGEGGEASVSPE
KTSTTSKGKAKRDKASGDVKEKKGKGSLGSQGAKDEPEEELQKGMGTVEGGDQSNPKSKK
EKKKSDKRKKDKEKKEKKKKAKKASTKDSESPSQKKKKKKKKTAEQTV
NT seq 4467 nt NT seq  +upstreamnt  +downstreamnt
atggccgaggccaggaagcggcgggagctacttcccctgatctaccaccatctgctgcgg
gctggctatgtgcgtgcggcgcgggaagtgaaggagcagagcggccagaagtgtttcctg
gctcagcccgtaacccttctggacatctatacacactggcaacaaacctcagagcttggt
cggaagcggaaggcagaggaagatgcggcactgcaagctaagaaaacccgtgtgtcagac
cccatcagcacctcggagagctcggaagaggaggaagaagcagaagccgaaaccgccaaa
gccaccccaagactagcatctaccaactcctcagtcctgggggcggacttgccatcaagc
atgaaagaaaaagccaaggcagagacagagaaagctggcaagactgggaattccatgcca
caccctgccactgggaagacggtggccaaccttctttctgggaagtctcccaggaagtca
gcagagccctcagcaaatactacgttggtctcagaaactgaggaggagggcagcgtcccg
gcctttggagctgctgccaagcctgggatggtgtcagcgggccaggccgacagctccagc
gaggacacctccagctccagtgatgagacagacgtggaggggaaaccctcagtaaaacca
gcccaggtcaaagcctcatcagtttctactaaggagtctccagcaagaaaggcggcccca
gcccctgggaaggtgggggatgtgacaccccaggtcaaaggaggggccctgcccccagcc
aagagggccaagaagccagaagaggagtcagagagtagtgaggagggatctgaaagtgag
gaggaggcccctgcagggacacgaagccaggtaaaggcctctgaaaaaattctccaggtc
agagctgcctcagcccctgccaaggggacccctgggaaaggggctaccccagcaccccct
gggaaggcaggggctgtagcctcccagaccaaggcagggaagccagaggaggactcagag
agcagcagcgaggagtcatctgacagtgaggaggagacgccagctgccaaggccctgctt
caggcgaaggcctcaggaaaaacctctcaggtcggagctgcctcagcccctgccaaggag
tcccccaggaaaggagctgccccagcgccccctgggaagacagggcctgcagttgccaag
gcccaggcggggaagcgggaggaggactcgcagagcagcagcgaggaatcggacagtgag
gaggaggcgcctgctcaggcgaagccttcagggaaggccccccaggtcagagccgcctcg
gcccctgccaaggagtcccccaggaaaggggctgccccagcacctcctaggaaaacaggg
cctgcagccgcccaggtccaggtggggaagcaggaggaggactcaagaagcagcagcgag
gagtcagacagtgacagagaggcactggcagccatgaatgcagctcaggtgaagcccttg
gggaaaagcccccaggtgaaacctgcctctaccatgggcatggggcccttggggaaaggc
gccggcccagtgccacccgggaaggtggggcctgcaaccccctcagcccaggtggggaag
tgggaggaggactcagagagcagtagtgaggagtcatcagacagcagtgatggagaggtg
cccacagctgtggccccggctcaggaaaagtccttggggaacatcctccaggccaaaccc
acctccagtcctgccaaggggccccctcagaaggcagggcctgtagccgtccaggtcaag
gctgaaaagcccatggacaactcggagagcagcgaggagtcatcggacagtgcggacagt
gaggaggcaccagcagccatgactgcagctcaggcaaaaccagctctgaaaattcctcag
accaaggcctgcccaaagaaaaccaataccactgcatctgccaaggtcgcccctgtgcga
gtgggcacccaagccccccggaaagcaggaactgcgacttctccagcaggctcatcccca
gctgtggctgggggcacccagagaccagcagaggattcttcaagcagtgaggaatcagat
agtgaggaagagaagacaggtcttgcagtaaccgtgggacaggcaaagtctgtggggaaa
ggcctccaggtgaaagcagcctcagtgcctgtcaaggggtccttggggcaagggactgct
ccagtactccctgggaagacggggcctacagtcacccaggtgaaagctgaaaagcaggaa
gactctgagagcagtgaggaggaatcagacagtgaggaagcagctgcatctccagcacag
gtgaaaacctcagtaaagaaaacccaggccaaagccaacccagctgccgccagagcacct
tcagcaaaagggacaatttcagcccctggaaaagttgtcactgcagctgctcaagccaag
cagaggtctccatccaaggtgaagccaccagtgagaaacccccagaacagtaccgtcttg
gcgaggggcccagcatctgtgccatctgtggggaaggccgtggctacagcagctcaggcc
cagacagggccagaggaggactcagggagcagtgaggaggagtcagacagtgaggaggag
gcggagacgctggctcaggtgaagccttcagggaagacccaccagatcagagctgccttg
gctcctgccaaggagtcccccaggaaaggggctgccccaacacctcctgggaagacaggg
ccttcggctgcccaggcagggaagcaggatgactcagggagcagcagcgaggaatcagac
agtgatggggaggcaccggcagctgtgacctctgcccaggtgattaaaccccctctgatt
tttgtcgaccctaatcgtagtccagctggcccagctgctacacccgcacaagcccaggct
gcaagcaccccgaggaaggcccgagcctcggagagcacagccaggagctcctcctccgag
agcgaggatgaggacgtgatccccgctacacagtgcttgactcctggcatcagaaccaat
gtggtgaccatgcccactgcccacccaagaatagcccccaaagccagcatggctggggcc
agcagcagcaaggagtccagtcggatatcagatggcaagaaacaggagggaccagccact
caggtgtcaaagaagaacccagcttccctcccactgacccaggctgccctgaaggtcctc
gcccagaaagccagtgaggctcagcctcctgttgccaggacccagccttcaagtggggtt
gacagtgctgtgggaacactccctgcaacaagtccccagagcacctccgtccaggccaaa
gggaccaacaagctcagaaaacctaagcttcctgaggtccagcaggccaccaaagcccct
gagagctcagatgacagtgaggacagcagcgacagttcttcagggagtgaggaagatggt
gaagggccccagggggccaagtcagcccacacgctgggtcccaccccctccaggacagag
accctggtggaggagaccgcagcagagtccagcgaggatgatgtggtggcgccatcccag
tctctcctctcaggttatatgacccctggactaaccccagccaattcccaggcctcaaaa
gccactcccaagctagactccagcccctcagtttcctctactctggccgccaaagatgac
ccagatggcaagcaggaggcaaagccccaacaggcagcaggcatgttgtcccctaaaaca
ggtggaaaagaggctgcttcaggcaccacacctcagaagtcccggaagcccaagaaaggg
gctgggaacccccaagcctcaaccctggcgctgcaaagcaacatcacccagtgcctcctg
ggccaaccctggcccctgaatgaggcccaggtgcaggcctcagtggtgaaggtcctgact
gagctgctggaacaggaaagaaagaaggtggtggacaccaccaaggagagcagcaggaag
ggctgggagagccgcaagcggaagctatcgggagaccagccagctgccaggacccccagg
agcaagaagaagaagaagctgggggccggggaaggtggggaggcctctgtttccccagaa
aagacctccacgacttccaaggggaaagcaaagagagacaaagcaagtggtgatgtcaag
gagaagaaagggaaggggtctcttggctcccaaggggccaaggacgagccagaagaggag
cttcagaaggggatggggacggttgaaggtggagatcaaagcaacccaaagagcaagaag
gagaagaagaaatccgacaagagaaaaaaagacaaagaaaaaaaagaaaagaagaagaaa
gcaaaaaaggcctcaaccaaagattctgagtcaccgtcccagaagaaaaagaagaaaaag
aagaagacagcagagcagactgtatga

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