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

Gene name
TCOF1, MFD1, TCS1, treacle
Definition
Treacher Collins-Franceschetti syndrome 1
Orthology
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
5q32
AA seq 1411 aa AA seqDB search
MAEARKRRELLPLIYHHLLRAGYVRAAREVKEQSGQKCFLAQPVTLLDIYTHWQQTSELG
RKRKAEEDAALQAKKTRVSDPISTSESSEEEEEAEAETAKATPRLASTNSSVLGADLPSS
MKEKAKAETEKAGKTGNSMPHPATGKTVANLLSGKSPRKSAEPSANTTLVSETEEEGSVP
AFGAAAKPGMVSAGQADSSSEDTSSSSDETDVEVKASEKILQVRAASAPAKGTPGKGATP
APPGKAGAVASQTKAGKPEEDSESSSEESSDSEEETPAAKALLQAKASGKTSQVGAASAP
AKESPRKGAAPAPPGKTGPAVAKAQAGKREEDSQSSSEESDSEEEAPAQAKPSGKAPQVR
AASAPAKESPRKGAAPAPPRKTGPAAAQVQVGKQEEDSRSSSEESDSDREALAAMNAAQV
KPLGKSPQVKPASTMGMGPLGKGAGPVPPGKVGPATPSAQVGKWEEDSESSSEESSDSSD
GEVPTAVAPAQEKSLGNILQAKPTSSPAKGPPQKAGPVAVQVKAEKPMDNSESSEESSDS
ADSEEAPAAMTAAQAKPALKIPQTKACPKKTNTTASAKVAPVRVGTQAPRKAGTATSPAG
SSPAVAGGTQRPAEDSSSSEESDSEEEKTGLAVTVGQAKSVGKGLQVKAASVPVKGSLGQ
GTAPVLPGKTGPTVTQVKAEKQEDSESSEEESDSEEAAASPAQVKTSVKKTQAKANPAAA
RAPSAKGTISAPGKVVTAAAQAKQRSPSKVKPPVRNPQNSTVLARGPASVPSVGKAVATA
AQAQTGPEEDSGSSEEESDSEEEAETLAQVKPSGKTHQIRAALAPAKESPRKGAAPTPPG
KTGPSAAQAGKQDDSGSSSEESDSDGEAPAAVTSAQVIKPPLIFVDPNRSPAGPAATPAQ
AQAASTPRKARASESTARSSSSESEDEDVIPATQCLTPGIRTNVVTMPTAHPRIAPKASM
AGASSSKESSRISDGKKQEGPATQVSKKNPASLPLTQAALKVLAQKASEAQPPVARTQPS
SGVDSAVGTLPATSPQSTSVQAKGTNKLRKPKLPEVQQATKAPESSDDSEDSSDSSSGSE
EDGEGPQGAKSAHTLGPTPSRTETLVEETAAESSEDDVVAPSQSLLSGYMTPGLTPANSQ
ASKATPKLDSSPSVSSTLAAKDDPDGKQEAKPQQAAGMLSPKTGGKEAASGTTPQKSRKP
KKGAGNPQASTLALQSNITQCLLGQPWPLNEAQVQASVVKVLTELLEQERKKVVDTTKES
SRKGWESRKRKLSGDQPAARTPRSKKKKKLGAGEGGEASVSPEKTSTTSKGKAKRDKASG
DVKEKKGKGSLGSQGAKDEPEEELQKGMGTVEGGDQSNPKSKKEKKKSDKRKKDKEKKEK
KKKAKKASTKDSESPSQKKKKKKKKTAEQTV
NT seq 4236 nt NT seq  +upstreamnt  +downstreamnt
atggccgaggccaggaagcggcgggagctacttcccctgatctaccaccatctgctgcgg
gctggctatgtgcgtgcggcgcgggaagtgaaggagcagagcggccagaagtgtttcctg
gctcagcccgtaacccttctggacatctatacacactggcaacaaacctcagagcttggt
cggaagcggaaggcagaggaagatgcggcactgcaagctaagaaaacccgtgtgtcagac
cccatcagcacctcggagagctcggaagaggaggaagaagcagaagccgaaaccgccaaa
gccaccccaagactagcatctaccaactcctcagtcctgggggcggacttgccatcaagc
atgaaagaaaaagccaaggcagagacagagaaagctggcaagactgggaattccatgcca
caccctgccactgggaagacggtggccaaccttctttctgggaagtctcccaggaagtca
gcagagccctcagcaaatactacgttggtctcagaaactgaggaggagggcagcgtcccg
gcctttggagctgctgccaagcctgggatggtgtcagcgggccaggccgacagctccagc
gaggacacctccagctccagtgatgagacagacgtggaggtaaaggcctctgaaaaaatt
ctccaggtcagagctgcctcagcccctgccaaggggacccctgggaaaggggctacccca
gcaccccctgggaaggcaggggctgtagcctcccagaccaaggcagggaagccagaggag
gactcagagagcagcagcgaggagtcatctgacagtgaggaggagacgccagctgccaag
gccctgcttcaggcgaaggcctcaggaaaaacctctcaggtcggagctgcctcagcccct
gccaaggagtcccccaggaaaggagctgccccagcgccccctgggaagacagggcctgca
gttgccaaggcccaggcggggaagcgggaggaggactcgcagagcagcagcgaggaatcg
gacagtgaggaggaggcgcctgctcaggcgaagccttcagggaaggccccccaggtcaga
gccgcctcggcccctgccaaggagtcccccaggaaaggggctgccccagcacctcctagg
aaaacagggcctgcagccgcccaggtccaggtggggaagcaggaggaggactcaagaagc
agcagcgaggagtcagacagtgacagagaggcactggcagccatgaatgcagctcaggtg
aagcccttggggaaaagcccccaggtgaaacctgcctctaccatgggcatggggcccttg
gggaaaggcgccggcccagtgccacccgggaaggtggggcctgcaaccccctcagcccag
gtggggaagtgggaggaggactcagagagcagtagtgaggagtcatcagacagcagtgat
ggagaggtgcccacagctgtggccccggctcaggaaaagtccttggggaacatcctccag
gccaaacccacctccagtcctgccaaggggccccctcagaaggcagggcctgtagccgtc
caggtcaaggctgaaaagcccatggacaactcggagagcagcgaggagtcatcggacagt
gcggacagtgaggaggcaccagcagccatgactgcagctcaggcaaaaccagctctgaaa
attcctcagaccaaggcctgcccaaagaaaaccaataccactgcatctgccaaggtcgcc
cctgtgcgagtgggcacccaagccccccggaaagcaggaactgcgacttctccagcaggc
tcatccccagctgtggctgggggcacccagagaccagcagaggattcttcaagcagtgag
gaatcagatagtgaggaagagaagacaggtcttgcagtaaccgtgggacaggcaaagtct
gtggggaaaggcctccaggtgaaagcagcctcagtgcctgtcaaggggtccttggggcaa
gggactgctccagtactccctgggaagacggggcctacagtcacccaggtgaaagctgaa
aagcaggaagactctgagagcagtgaggaggaatcagacagtgaggaagcagctgcatct
ccagcacaggtgaaaacctcagtaaagaaaacccaggccaaagccaacccagctgccgcc
agagcaccttcagcaaaagggacaatttcagcccctggaaaagttgtcactgcagctgct
caagccaagcagaggtctccatccaaggtgaagccaccagtgagaaacccccagaacagt
accgtcttggcgaggggcccagcatctgtgccatctgtggggaaggccgtggctacagca
gctcaggcccagacagggccagaggaggactcagggagcagtgaggaggagtcagacagt
gaggaggaggcggagacgctggctcaggtgaagccttcagggaagacccaccagatcaga
gctgccttggctcctgccaaggagtcccccaggaaaggggctgccccaacacctcctggg
aagacagggccttcggctgcccaggcagggaagcaggatgactcagggagcagcagcgag
gaatcagacagtgatggggaggcaccggcagctgtgacctctgcccaggtgattaaaccc
cctctgatttttgtcgaccctaatcgtagtccagctggcccagctgctacacccgcacaa
gcccaggctgcaagcaccccgaggaaggcccgagcctcggagagcacagccaggagctcc
tcctccgagagcgaggatgaggacgtgatccccgctacacagtgcttgactcctggcatc
agaaccaatgtggtgaccatgcccactgcccacccaagaatagcccccaaagccagcatg
gctggggccagcagcagcaaggagtccagtcggatatcagatggcaagaaacaggaggga
ccagccactcaggtgtcaaagaagaacccagcttccctcccactgacccaggctgccctg
aaggtcctcgcccagaaagccagtgaggctcagcctcctgttgccaggacccagccttca
agtggggttgacagtgctgtgggaacactccctgcaacaagtccccagagcacctccgtc
caggccaaagggaccaacaagctcagaaaacctaagcttcctgaggtccagcaggccacc
aaagcccctgagagctcagatgacagtgaggacagcagcgacagttcttcagggagtgag
gaagatggtgaagggccccagggggccaagtcagcccacacgctgggtcccaccccctcc
aggacagagaccctggtggaggagaccgcagcagagtccagcgaggatgatgtggtggcg
ccatcccagtctctcctctcaggttatatgacccctggactaaccccagccaattcccag
gcctcaaaagccactcccaagctagactccagcccctcagtttcctctactctggccgcc
aaagatgacccagatggcaagcaggaggcaaagccccaacaggcagcaggcatgttgtcc
cctaaaacaggtggaaaagaggctgcttcaggcaccacacctcagaagtcccggaagccc
aagaaaggggctgggaacccccaagcctcaaccctggcgctgcaaagcaacatcacccag
tgcctcctgggccaaccctggcccctgaatgaggcccaggtgcaggcctcagtggtgaag
gtcctgactgagctgctggaacaggaaagaaagaaggtggtggacaccaccaaggagagc
agcaggaagggctgggagagccgcaagcggaagctatcgggagaccagccagctgccagg
acccccaggagcaagaagaagaagaagctgggggccggggaaggtggggaggcctctgtt
tccccagaaaagacctccacgacttccaaggggaaagcaaagagagacaaagcaagtggt
gatgtcaaggagaagaaagggaaggggtctcttggctcccaaggggccaaggacgagcca
gaagaggagcttcagaaggggatggggacggttgaaggtggagatcaaagcaacccaaag
agcaagaaggagaagaagaaatccgacaagagaaaaaaagacaaagaaaaaaaagaaaag
aagaagaaagcaaaaaaggcctcaaccaaagattctgagtcaccgtcccagaagaaaaag
aagaaaaagaagaagacagcagagcagactgtatga

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