LOCUS AB300418 7564 bp mRNA linear HUM 27-MAR-2008 DEFINITION Homo sapiens N-TAF1 mRNA for TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, neuron specific isoform, complete cds. ACCESSION AB300418 VERSION AB300418.1 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 7564) AUTHORS Makino,S. and Tamiya,G. TITLE Direct Submission JOURNAL Submitted (08-APR-2007) to the DDBJ/EMBL/GenBank databases. Contact:Satoshi Makino The University of Tokushima Graduate School of Medicine, Department of Neurology and Neuroscience; 3-18-15, Kuramoto-cho, Tokushima City, Tokushima 770-8503, Japan REFERENCE 2 AUTHORS Makino,S. and Tamiya,G. TITLE A neuron-specific isoform of TAF1 JOURNAL Unpublished (2007) REFERENCE 3 AUTHORS Makino,S., Kaji,R., Ando,S., Tomizawa,M., Yasuno,K., Goto,S., Matsumoto,S., Tabuena,M.D., Maranon,E., Dantes,M., Lee,L.V., Ogasawara,K., Tooyama,I., Akatsu,H., Nishimura,M. and Tamiya,G. TITLE Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism. JOURNAL Am. J. Hum. Genet. 80, 393-406 (2007) COMMENT FEATURES Location/Qualifiers source 1..7564 /chromosome="X" /db_xref="H-InvDB:HIT000409138" /db_xref="taxon:9606" /map="Xq13.1" /mol_type="mRNA" /organism="Homo sapiens" /tissue_type="brain" CDS 4..5691 /codon_start=1 /gene="N-TAF1" /note="complete translation frame of TAF1 with an insertion of two amino acid residues, alanine and lysine" /product="TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, neuron specific isoform" /protein_id="BAG15901.1" /transl_table=1 /translation="MGPGCDLLLRTAATITAAAIMSDTDSDEDSAGGGPFSLAGFLFG NINGAGQLEGESVLDDECKKHLAGLGALGLGSLITELTANEELTGTDGALVNDEGWVR STEDAVDYSDINEVAEDESRRYQQTMGSLQPLCHSDYDEDDYDADCEDIDCKLMPPPP PPPGPMKKDKDQDSITGVSENGEGIILPSIIAPSSLASEKVDFSSSSDSESEMGPQEA TQAESEDGKLTLPLAGIMQHDATKLLPSVTELFPEFRPGKVLRFLRLFGPGKNVPSVW RSARRKRKKKHRELIQEEQIQEVECSVESEVSQKSLWNYDYAPPPPPEQCLSDDEITM MAPVESKFSQSTGDIDKVTDTKPRVAEWRYGPARLWYDMLGVPEDGSGFDYGFKLRKT EHEPVIKSRMIEEFRKLEENNGTDLLADENFLMVTQLHWEDDIIWDGEDVKHKGTKPQ RASLAGWLPSSMTRNAMAYNVQQGFAATLDDDKPWYSIFPIDNEDLVYGRWEDNIIWD AQAMPRLLEPPVLTLDPNDENLILEIPDEKEEATSNSPSKESKKESSLKKSRILLGKT GVIKEEPQQNMSQPEVKDPWNLSNDEYYYPKQQGLRGTFGGNIIQHSIPAVELRQPFF PTHMGPIKLRQFHRPPLKKYSFGALSQPGPHSVQPLLKHIKKKAKMREQERQASGGGE MFFMRTPQDLTGKDGDLILAEYSEENGPLMMQVGMATKIKNYYKRKPGKDPGAPDCKY GETVYCHTSPFLGSLHPGQLLQAFENNLFRAPIYLHKMPETDFLIIRTRQGYYIRELV DIFVVGQQCPLFEVPGPNSKRANTHIRDFLQVFIYRLFWKSKDRPRRIRMEDIKKAFP SHSESSIRKRLKLCADFKRTGMDSNWWVLKSDFRLPTEEEIRAMVSPEQCCAYYSMIA AEQRLKDAGYGEKSFFAPEEENEEDFQMKIDDEVRTAPWNTTRAFIAAMKGKCLLEVT GVADPTGCGEGFSYVKIPNKPTQQKDDKEPQPVKKTVTGTDADLRRLSLKNAKQLLRK FGVPEEEIKKLSRWEVIDVVRTMSTEQARSGEGPMSKFARGSRFSVAEHQERYKEECQ RIFDLQNKVLSSTEVLSTDTDSSSAEDSDFEEMGKNIENMLQNKKTSSQLSREREEQE RKELQRMLLAAGSAASGNNHRDDDTASVTSLNSSATGRCLKIYRTFRDEEGKEYVRCE TVRKPAVIDAYVRIRTTKDEEFIRKFALFDEQHREEMRKERRRIQEQLRRLKRNQEKE KLKGPPEKKPKKMKERPDLKLKCGACGAIGHMRTNKFCPLYYQTNAPPSNPVAMTEEQ EEELEKTVIHNDNEELIKVEGTKIVLGKQLIESADEVRRKSLVLKFPKQQLPPKKKRR VGTTVHCDYLNRPHKSIHRRRTDPMVTLSSILESIINDMRDLPNTYPFHTPVNAKVVK DYYKIITRPMDLQTLRENVRKRLYPSREEFREHLELIVKNSATYNGPKHSLTQISQSM LDLCDEKLKEKEDKLARLEKAINPLLDDDDQVAFSFILDNIVTQKMMAVPDSWPFHHP VNKKFVPDYYKVIVNPMDLETIRKNISKHKYQSRESFLDDVNLILANSVKYNGPESQY TKTAQEIVNVCYQTLTEYDEHLTQLEKDICTAKEAALEEAELESLDPMTPGPYTPQAK PPDLYDTNTSLSMSRDASVFQDESNMSVLDIPSATPEKQVTQEGEDGDGDLADEEEGT VQQPQASVLYEDLLMSEGEDDEEDAGSDEEGDNPFSAIQLSESGSDSDVGSGGIRPKQ PRMLQENTRMDMENEESMMSYEGDGGEASHGLEDSNISYGSYEEPDPKSNTQDTSFSS IGGYEVSEEEEDEEEEEQRSGPSVLSQVHLSEDEEDSEDFHSIAGDSDLDSDE" misc_feature 5002..5007 /note="Additional exon, 5'-GCTAAG-3'" BASE COUNT 2244 a 1553 c 1889 g 1878 t ORIGIN 1 tctatgggac ccggctgcga tttgctgctg cggacagcag ctaccatcac tgctgccgcc 61 atcatgtcag acacggacag cgacgaagat tccgctggag gcggcccatt ttctttagcg 121 ggtttccttt tcggcaacat caatggagcc gggcagctgg agggggaaag cgtcttggat 181 gatgaatgta agaagcactt ggcaggcttg ggggctttgg ggctgggcag cctgatcact 241 gaactcacgg caaatgaaga attgaccggg actgacggtg ccttggtaaa tgatgaaggg 301 tgggttagga gtacagaaga tgctgtggac tattcagaca tcaatgaggt ggcagaagat 361 gaaagccgaa gataccagca gacgatgggg agcttgcagc ccctttgcca ctcagattat 421 gatgaagatg actatgatgc tgattgtgaa gacattgatt gcaagttgat gcctcctcca 481 cctccacccc cgggaccaat gaagaaggat aaggaccagg attctattac tggtgtgtct 541 gaaaatggag aaggcatcat cttgccctcc atcattgccc cttcctcttt ggcctcagag 601 aaagtggact tcagtagttc ctctgactca gaatctgaga tgggacctca ggaagcaaca 661 caggcagaat ctgaagatgg aaagctgacc cttccattgg ctgggattat gcagcatgat 721 gccaccaagc tgttgccaag tgtcacagaa ctttttccag aatttcgacc tggaaaggtg 781 ttacgttttc tacgtctttt tggaccaggg aagaatgtcc catctgtttg gcggagtgct 841 cggagaaaga ggaagaagaa gcaccgtgag ctgatacagg aagagcagat ccaggaggtg 901 gagtgctcag tagaatcaga agtcagccag aagtctttgt ggaactacga ctacgctcca 961 ccaccacctc cagagcagtg tctctctgat gatgaaatca cgatgatggc tcctgtggag 1021 tccaaatttt cccaatcaac tggagatata gataaagtga cagataccaa accaagagtg 1081 gctgagtggc gttatgggcc tgcccgactg tggtatgata tgctgggtgt ccctgaagat 1141 ggcagtgggt ttgactatgg cttcaaactg agaaagacag aacatgaacc tgtgataaaa 1201 tctagaatga tagaggaatt taggaaactt gaggaaaaca atggcactga tcttctggct 1261 gatgaaaact tcctgatggt gacacagctg cattgggagg atgatatcat ctgggatggg 1321 gaggatgtca aacacaaagg gacaaaacct cagcgtgcaa gcctggcagg ctggcttcct 1381 tctagcatga ctaggaatgc gatggcttac aatgttcagc aaggttttgc agccactctt 1441 gatgatgaca aaccttggta ctccattttt cccattgaca atgaggatct ggtatatgga 1501 cgctgggagg acaatatcat ttgggatgct caggccatgc cccggctgtt ggaacctcct 1561 gttttgacac ttgatcccaa tgatgagaac ctcattttgg aaattcctga tgagaaggaa 1621 gaggccacct ctaactcccc ctccaaggag agtaagaagg aatcatctct gaagaagagt 1681 cgaattctct tagggaaaac aggagtcatc aaggaggaac cacagcagaa catgtctcag 1741 ccagaagtga aagatccatg gaatctctcc aatgatgagt attattatcc caagcaacag 1801 ggtcttcgag gcacctttgg agggaatatt atccagcatt caattcctgc tgtggaatta 1861 cggcagccct tctttcccac ccacatgggg cccatcaaac tccggcagtt ccatcgccca 1921 cctctgaaaa agtactcatt tggtgcactt tctcagccag gtccccactc agtccaacct 1981 ttgctaaagc acatcaaaaa aaaggccaag atgagagaac aagagaggca agcttcaggt 2041 ggtggagaga tgttttttat gcgcacacct caggacctca caggcaaaga tggtgatctt 2101 attcttgcag aatatagtga ggaaaatgga cccttaatga tgcaggttgg catggcaacc 2161 aagataaaga actattataa acggaaacct ggaaaagatc ctggagcacc agattgtaaa 2221 tatggggaaa ctgtttactg ccatacatct cctttcctgg gttctctcca tcctggccaa 2281 ttgctgcaag catttgagaa caaccttttt cgtgctccaa tttatcttca taagatgcca 2341 gaaactgatt tcttgatcat tcggacaaga cagggttact atattcggga attagtggat 2401 atttttgtgg ttggccagca gtgtcccttg tttgaagttc ctgggcctaa ctccaaaagg 2461 gccaatacgc atattcgaga ctttctacag gtttttattt accgcctttt ctggaaaagt 2521 aaagatcggc cacggaggat acgaatggaa gatataaaaa aagcctttcc ttcccattca 2581 gaaagcagca tccggaagag gctaaagctc tgcgctgact tcaaacgcac agggatggac 2641 tcaaactggt gggtgcttaa gtctgatttt cgtttaccaa cggaagaaga gatcagagct 2701 atggtgtcac cagagcagtg ctgtgcttat tatagcatga tagctgcaga gcaacgactg 2761 aaggatgctg gctatggtga gaaatccttt tttgctccag aagaagaaaa tgaggaagat 2821 ttccagatga agattgatga tgaagttcgc actgcccctt ggaacaccac aagggccttc 2881 attgctgcca tgaagggcaa gtgtctgcta gaggtgactg gggtggcaga tcccacgggg 2941 tgtggtgaag gattctccta tgtgaagatt ccaaacaaac caacacagca gaaggatgat 3001 aaagaaccgc agccagtgaa gaagacagtg acaggaacag atgcagacct tcgtcgcctt 3061 tccctgaaaa atgccaagca acttctacgt aaatttggtg tgcctgagga agagattaaa 3121 aagttgtccc gctgggaagt gattgatgtg gtgcgcacaa tgtcaacaga acaggctcgt 3181 tctggagagg ggcccatgag taaatttgcc cgtggatcaa ggttttctgt ggctgagcat 3241 caagagcgtt acaaagagga atgtcagcgc atctttgacc tacagaacaa ggttctgtca 3301 tcaactgaag tcttatcaac tgacacagac agcagctcag ctgaagatag tgactttgaa 3361 gaaatgggaa agaacattga gaacatgttg cagaacaaga aaaccagctc tcagctttca 3421 cgtgaacggg aggaacagga gcggaaggaa ctacagcgaa tgctactggc agcaggctca 3481 gcagcatccg gaaacaatca cagagatgat gacacagctt ccgtgactag ccttaactct 3541 tctgccactg gacgctgtct caagatttat cgcacgtttc gagatgaaga ggggaaagag 3601 tatgttcgct gtgagacagt ccgaaaacca gctgtcattg atgcctatgt gcgcatacgg 3661 actacaaaag atgaggaatt cattcgaaaa tttgcccttt ttgatgaaca acatcgggaa 3721 gagatgcgaa aagaacggcg gaggattcaa gagcaactga ggcggcttaa gaggaaccag 3781 gaaaaggaga agcttaaggg tcctcctgag aagaagccca agaaaatgaa ggagcgtcct 3841 gacctaaaac tgaaatgtgg ggcatgtggt gccattggac acatgaggac taacaaattc 3901 tgccccctct attatcaaac aaatgcgcca ccttccaacc ctgttgccat gacagaagaa 3961 caggaggagg agttggaaaa gacagtcatt cataatgata atgaagaact tatcaaggtt 4021 gaagggacca aaattgtctt ggggaaacag ctaattgaga gtgcggatga ggttcgcaga 4081 aaatctctgg ttctcaagtt tcctaaacag cagcttcctc caaagaagaa acggcgagtt 4141 ggaaccactg ttcactgtga ctatttgaat agacctcata agtccatcca ccggcgccgc 4201 acagacccta tggtgacgct gtcgtccatc ttggagtcta tcatcaatga catgagagat 4261 cttccaaata catacccttt ccacactcca gtcaatgcaa aggttgtaaa ggactactac 4321 aaaatcatca ctcggccaat ggacctacaa acactccgcg aaaacgtgcg taaacgcctc 4381 tacccatctc gggaagagtt cagagagcat ctggagctaa ttgtgaaaaa tagtgcaacc 4441 tacaatgggc caaaacactc attgactcag atctctcaat ccatgctgga tctctgtgat 4501 gaaaaactca aagagaaaga agacaaatta gctcgcttag agaaagctat caaccccttg 4561 ctggatgatg atgaccaagt ggcgttttct ttcattctgg acaacattgt cacccagaaa 4621 atgatggcag ttccagattc ttggccattt catcacccag ttaataagaa atttgttcca 4681 gattattaca aagtgattgt caatccaatg gatttagaga ccatacgtaa gaacatctcc 4741 aagcacaagt atcagagtcg ggagagcttt ctggatgatg taaaccttat tctggccaac 4801 agtgttaagt ataatggacc tgagagtcag tatactaaga ctgcccagga gattgtgaac 4861 gtctgttacc agacattgac tgagtatgat gaacatttga ctcaacttga gaaggatatt 4921 tgtactgcta aagaagcagc tttggaggaa gcagaattag aaagcctgga cccaatgacc 4981 ccagggccct acacgcctca ggctaagcct cctgatttgt atgataccaa cacatccctc 5041 agtatgtctc gagatgcctc tgtatttcaa gatgagagca atatgtctgt cttggatatt 5101 cccagtgcca ctccagaaaa gcaggtaaca caggaaggtg aagatggaga tggtgatctt 5161 gcagatgaag aggaaggaac tgtacaacag cctcaagcca gtgtcctgta tgaggatttg 5221 cttatgtctg aaggagaaga tgatgaggaa gatgctggga gtgatgaaga aggagacaat 5281 cctttctctg ctatccagct gagtgaaagt ggaagtgact ctgatgtggg atctggtgga 5341 ataagaccca aacaaccccg catgcttcag gagaacacaa ggatggacat ggaaaatgaa 5401 gaaagcatga tgtcctatga gggagacggt ggggaggctt cccatggttt ggaggatagc 5461 aacatcagtt atgggagcta tgaggagcct gatcccaagt cgaacaccca agacacaagc 5521 ttcagcagca tcggtgggta tgaggtatca gaggaggaag aagatgagga ggaggaagag 5581 cagcgctctg ggccgagcgt actaagccag gtccacctgt cagaggacga ggaggacagt 5641 gaggatttcc actccattgc tggggacagt gacttggact ctgatgaatg aggcttcctt 5701 tgggcctcct tggtcagcct tccctgttct ccagcctagg tggttcacct ttccccaatt 5761 tgttcatatt tgtacagtat ctgatcctga aatcatgaaa ttaactaaca ccttagcctt 5821 tttaaaagta gtaagtaaat gataataaat cacctctcct aatcttcctg gggcaatgtc 5881 accctttgat ttaaaacaaa gcaaccccct ttcccctacc actacggaaa agagcaagct 5941 catttttccg tgtcctcctt tatttaactc catttattgc ttttggtata atttttccct 6001 ggggaaggag gggaaattat gaaagaacta gtaactttat gtcctcttga tgtattagga 6061 aatttccggc caggcgtggt ggctcacacc tgtaatctca gcactctggg aggccgaggc 6121 gggcagatca cctgaggtca gaagttcgag accagcttgg ccaacatggc gaaaccgcat 6181 ctctactaaa aatacaaaaa ttagccaggt gtggtggcgt atgcctgtta atcctagcta 6241 ctcgggaggc tgaggcagga gaattacttg aacccgggag gcagaggttg cagtgagtgg 6301 aggtcacgcc actgcactcc agcctgggcg aaagagtgag attcagtctc aaaaaaaaaa 6361 aaatttccaa gcatggtatc atctcacttt tctaatttac aggctggagc agatgagagc 6421 cctcctgctg ggacagagaa ttgggttcta gtggactctg tgctacactt aaacctgtga 6481 gacaaaccgc ccattatttt attatttaat tatgcaatgc ctagttccta aatggattgg 6541 aggcaaatta ccgtaaattt tgaaacagcc tatatgtcag aaatgataat gttgccacct 6601 aaatgttttc tgtccccccc accctcccca ggggaaatgg taggaaaatg gtaagtttct 6661 tagggcaaag actgtgtctt ctgtttcttt tcatgcttag gatatggttc tgtgcatagt 6721 aggtactcag taaatgttcc tagaatcata aaatcctcaa cagatatgtt actgagcatc 6781 tgcttttcat gataagcact ctatcagatc cttgggatgc aaaggtaaat aagacaaatc 6841 ccttttaccc aaagagctca ccatcaagtt gggggaggga aagtggaatt caaaacatgt 6901 taataaatca tcatagtact gtgagataag tgcaattaag aagctagtta taaagtatag 6961 gggaaataga ggagtaatca tgtctgaaaa gtcaggaaag tcttcctaga ggtaattttt 7021 aagctgattg ttttagaatt agtagaagct tgccagatgg aaaagtccag gcaaagtgta 7081 acatgaatgg gaaaggccac agtctagaaa tggcagagtg tgttcctagt ttgtttgttt 7141 gtttgtttgt acctgccttg ttccaggaag gatttaatgt ggtttatatt ccagtccttt 7201 aatgctggaa gggctgagat gagactgaaa gatgggcagg aagtatatca tcacaagctt 7261 tgtgtttgat gttaatgtgt atgattttta tattatggga aataagctct tagaggagtg 7321 atataatcag gtttgtgttt tagaaatctg tgtaatgaat gaatgaagaa agaaattgaa 7381 gaatcatgta acatatgtga tcgcattttt gtaaaagaac catgtgtgtt tatatgtgtt 7441 tatatatata cttgtgtatg caaaggtaaa agtctgaaag gatatatgct aactgttcac 7501 aatgataacc ccccaggaat gggattggag gggagggggc ttctgtgttt gttatgtatg 7561 ctgg //