Homo sapiens (human): 6949 Help Entry 6949              CDS       T01001                                  Symbol TCOF1, MFD1, TCS, TCS1, treacle Name (RefSeq) treacle protein isoform d   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 OrthologParalogGFIT Motif Pfam:  Treacle Gal-3-0_sulfotr Motif Other DBs NCBI-GeneID:  6949 NCBI-ProteinID:  NP_001128715 OMIM:  606847 HGNC:  11654 UniProt:  Q13428 LinkDB All DBs Position 5:150357697..150400293 Genome browser 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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