KEGG   Homo sapiens (human): 6949
Entry
6949              CDS       T01001                                 
Symbol
TCOF1, MFD1, TCS, TCS1, treacle
Name
(RefSeq) treacle ribosome biogenesis factor 1
  KO
K14562  Treacher Collins syndrome protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa03008  Ribosome biogenesis in eukaryotes
Disease
H00610  Treacher Collins syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03008 Ribosome biogenesis in eukaryotes
    6949 (TCOF1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03009 Ribosome biogenesis [BR:hsa03009]
    6949 (TCOF1)
Ribosome biogenesis [BR:hsa03009]
 Eukaryotic type
  90S particles
   Other 90S particles
    6949 (TCOF1)
SSDB
Motif
Pfam: Treacle Gal-3-0_sulfotr
Other DBs
NCBI-GeneID: 6949
NCBI-ProteinID: NP_001128715
OMIM: 606847
HGNC: 11654
Ensembl: ENSG00000070814
UniProt: Q13428
Position
5:150357697..150400293
AA seq 1488 aa
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   +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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (44)   
   KEGG ORTHOLOGY (1)   
   RefGene (31)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (7)   
   OC (1)   
Protein sequence (95)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (93)   
DNA sequence (140)   
   RefSeq(nuc) (94)   
   GenBank (23)   
   EMBL (23)   
Protein domain (2)   
   Pfam (2)   
All databases (288)   

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