LOCUS AY596970 7882 bp mRNA linear HUM 28-JUN-2004 DEFINITION Homo sapiens tuberin-like protein 1 isoform 1 (GARNL1) mRNA, complete cds, alternatively spliced. ACCESSION AY596970 VERSION AY596970.1 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 7882) AUTHORS Schwarzbraun,T., Vincent,J.B., Schumacher,A., Geschwind,D.H., Oliveira,J., Windpassinger,C., Ofner,L., Ledinegg,M.K., Kroisel,P.M., Wagner,K. and Petek,E. TITLE Cloning, genomic structure and expression profile of TULIP1, a brain-expressed candidate gene for 14q13-linked neurological phenotypes and its murine homolog JOURNAL Unpublished REFERENCE 2 (bases 1 to 7882) AUTHORS Schwarzbraun,T., Vincent,J.B., Schumacher,A., Geschwind,D.H., Oliveira,J., Windpassinger,C., Ofner,L., Ledinegg,M.K., Kroisel,P.M., Wagner,K. and Petek,E. TITLE Direct Submission JOURNAL Submitted (09-APR-2004) Institute of Medical Biology and Human Genetics, Medical University of Graz, Harrachgasse 21/8, Graz 8010, Austria FEATURES Location/Qualifiers source 1..7882 /db_xref="H-InvDB:HIT000255664" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="14" /map="14q13.2" gene 1..7882 /gene="GARNL1" /gene_synonym="TULIP1" CDS 392..6502 /gene="GARNL1" /gene_synonym="TULIP1" /note="alternatively spliced" /codon_start=1 /product="tuberin-like protein 1 isoform 1" /protein_id="AAT49271.1" /translation="MFSKKPHGDVKKSTQKVLDTKKDALTRLKHLRIVIENAESIDLK QFFDQHFSHIYYVFFENFVTIEASLKQKGHKSQREELDAILFIFEKILQLLPERIHQR WQFHSIGLILKKLLHTGNSLKIRREGVRLFLLWLQALQNNCSKEQLWMFSCLIPGFSA PQSEHGPRTLDNLINPPLNLQETQVTIEEITPLVPPQSGDKGQEDLTSYFLEALLKYI VIQVKSLEWKNKENQERGFSFLFSHFKKYYLPYIFPNICKENSLYHPILDIPQMRPKP HYVVIKKDAETNEAIYCTKEPFIKARVIVIRWLVSFWLEPKPHTGPHIPGMEGEVLPK NIQRAAASLVSREESKNDNADKTDRTTEPEQSHSNTSTLTEREPSSSSLCSIDEEHLT DIEIVRRVFSSKRSNVNFVTEIFRQAFLLPICEAAAMRKVVKVYQEWIQQEEKPLFMQ EPEEIVITSSDLPCIENVTDHDISMEEGEKREEENGTNTADHVRNSSWAKNGSYQGAL HNASEEATEQNIRAGTQAVLQVFIINSSNIFLLEPANEIKNLLDEHTDMCKRILNIYR YMVVQVSMDKKTWEQMLLVLLRVTESVLKMPSQAFLQFQGKKNMTLAGRLAGPLFQTL IVAWIKANLNVYISRELWDDLLSVLSSLTYWEELATEWSLTMETLTKVLARNLYSLDL SDLPLDKLSEQKQKKHKGKGVGHEFQKVSVDKSFSRGWSRDQPGQAPMRQRSATTTGS PGTEKARSIVRQKTVDIDDAQILPRSTRVRHFSQSEETGNEVFGALNEEQPLPRSSST SDILEPFTVERAKVNKEDMSQKLPPLNSDIGGSSANVPDLMDEFIAERLRSGNASTMT RRGSSPGSLEIPKDLPDILNKQNQMRPIDDPGVPSEWTSPASAGSSDLISSDSHSDSF SAFQYDGRKFDNFGFGTDTGVTSSADVDSGSGHHQSAEEQEVASLTTLHIDSETSSLN QQAFSAEVATITGSESASPVHSPLGSRSQTPSPSTLNIDHMEQKDLQLDEKLHHSVLQ TPDDLEISEFPSECCSVMAGGTLTGWHADVATVMWRRMLGILGDVNSIMDPEIHAQVF DYLCELWQNLAKIRDNLGISTDNLTSPSPPVLIPPLRILTPWLFKATMLTDKYKQGKL HAYKLICNTMKRRQDVSPNRDFLTHFYNIMHCGLLHIDQDIVNTIIKHCSPQFFSLGL PGATMLIMDFIVAAGRVASSAFLNAPRVEAQVLLGSLVCFPNLYCELPSLHPNIPDVA VSQFTDVKELIIKTVLSSARDEPSGPARCVALCSLGIWICEELVHESHHPQIKEALNV ICVSLKFTNKTVAHVACNMLHMLVHYVPRLQIYQPDSPLKIIQILIATITHLLPSTEA SSYEMDKRLVVSLLLCLLDWIMALPLKTLLQPFHATGAESDKTEKSVLNCIYKVLHGC VYGAQCFSNPRYFPMSLSDLASVDYDPFMHLESLKEPEPLHSPDSERSSKLQPVTEVK TQMQHGLISIAARTVITHLVNHLGHYPMSGGPAMLTSQVCENHDNHYSESTELSPELF ESPNIQFFVLNNTTLVSCIQIRSEENMPGGGLSAGLASANSNVRIIVRDLSGKYSWDS AILYGPPPVSGLSEPTSFMLSLSHQEKPEEPPTSNECLEDITVKDGLSLQFKRFRETV PTWDTIRDEEDVLDELLQYLGVTSPECLQRTGISLNIPAPQPVCISEKQENDVINAIL KQHTEEKEFVEKHFNDLNMKAVEQDEPIPQKPQSAFYYCRLLLSILGMNSWDKRRSFH LLKKNEKLLRELRNLDSRQCRETHKIAVFYVAEGQEDKHSILTNTGGSQAYEDFVAGL GWEVNLTNHCGFMGGLQKNKSTGLTTPYFATSTVEVIFHVSTRMPSDSDDSLTKKLRH LGNDEVHIVWSEHTRDYRRGIIPTEFGDVLIVIYPMKNHMFSIQIMKKPEVPFFGPLF DGAIVNGKVLPIMVRATAINASRALKSLIPLYQNFYEERARYLQTIVQHHLEPTTFED FAAQVFSPAPYHHLPSDADH" BASE COUNT 2403 a 1602 c 1609 g 2268 t ORIGIN 1 agggagagag ttgtgctcct gccgccgaga gctccacctt cgtggctctg ggtccggggc 61 cccggcctgt ggcggcgagc ggcggccgct ggagacgagc ggcggcggca ggcggccagc 121 ccgggtctgc ctcgctccgt gcagggccgg gagagggatc cgccatattg gagctggggc 181 cgaaggtgcc ttggagccgc ggcgcgaggc gggtggaggt ggcggccctg gcctggatcg 241 ggaaggagtc ggctctgccc tggcccgcaa ggctggggag ctaatgagcc tctctggcta 301 gtctcctccc cgtccactcc ctccactttc tgccgccggg acccggctgg gagccggctg 361 tggcagtggc agtggcagtg gcagcgacag gatgttctcc aagaagccgc acggggacgt 421 gaagaagtcc acccagaagg tgctagacac caagaaggac gcactgactc gcctcaagca 481 cctgcgcatc gtcatcgaga atgcagaatc tattgatctt aaacagtttt tcgaccaaca 541 tttttcacat atatactatg tgttctttga aaattttgtg actattgaag ctagtcttaa 601 acagaaaggt cacaagtctc aaagagagga attggatgct atacttttta tttttgagaa 661 aattttacaa cttcttccag aaagaattca tcagcgatgg cagtttcata gtattggatt 721 gattttaaag aagctacttc acacaggaaa ctccttaaag attaggcggg aaggtgttcg 781 tcttttctta ctatggttgc aagctcttca gaataactgt agcaaagaac agctctggat 841 gttttcatgc ttaatccctg gattttcagc accacagtct gaacatggac ctcgaacttt 901 agataatctc attaatcctc cactcaacct tcaagaaact caagtcacta tagaagaaat 961 cactcctctt gtccccccac aatcaggaga taaagggcaa gaagatctca caagctattt 1021 tcttgaagca cttctaaaat acatagtcat tcaggtaaaa agtttagaat ggaagaacaa 1081 agaaaaccaa gaaaggggat tttcattttt gttttcacat tttaagaaat attacttgcc 1141 ttatattttt ccaaacatct gtaaggaaaa cagtttatat catcctatac ttgacatccc 1201 gcagatgaga ccaaagccac attatgtcgt gataaagaaa gatgctgaaa ccaatgaagc 1261 aatctattgt acaaaggagc ctttcattaa ggctcgtgtt attgtcattc gttggctggt 1321 ttctttctgg ctggagccaa aaccacatac aggacctcat attcctggga tggaaggtga 1381 agtcttgcca aagaatattc agagagcagc tgctagttta gtatccagag aagaaagcaa 1441 aaatgataat gctgataaaa cagacagaac tacagaaccc gaacagtctc attccaatac 1501 aagcactctc acggagcgag aacctagctc atctagtctc tgtagtattg atgaagaaca 1561 tctcacagac attgaaatag ttcgcagagt tttttcttct aaaaggagta atgtaaactt 1621 tgtgacagag atatttcgtc aggcattttt attaccaatt tgtgaagcag cagctatgag 1681 aaaagtggta aaagtatatc aagaatggat ccaacaagag gaaaaacctt tgttcatgca 1741 agagcctgaa gaaattgtga tcacttcttc agacctccct tgcattgaaa atgtcacaga 1801 ccatgatatt tcaatggaag aaggagaaaa aagagaagag gaaaatggga ccaatactgc 1861 tgatcatgtt cgaaattcca gttgggcaaa aaacggctcc taccaaggtg ctcttcataa 1921 cgcctctgaa gaagccacag aacaaaacat acgagctggt acccaggcag ttttgcaggt 1981 gtttattata aactcatcaa atatatttct tcttgaacct gcaaatgaaa taaaaaatct 2041 tctggatgaa cacacagata tgtgtaaacg cattcttaac atttatcggt acatggttgt 2101 acaagtatca atggacaaaa agacttggga acagatgctg cttgtgttgc tcagagtcac 2161 ggaatctgta ctgaagatgc catcacaagc ttttctacag ttccaaggga aaaaaaatat 2221 gaccttggca ggtcgacttg caggaccact tttccagacc cttatagttg cctggatcaa 2281 agcaaaccta aatgtgtaca tctcccgaga actttgggat gacttactgt cagtattgtc 2341 atcgctgacc tattgggaag agttggccac tgagtggtca ctgactatgg agacattaac 2401 taaagtttta gctaggaatt tatatagttt ggatctcagt gatttaccat tggataagct 2461 gagtgaacag aaacaaaaaa agcacaaagg gaaaggagtt ggacatgaat ttcagaaagt 2521 ttcagttgac aagtcatttt ctagaggatg gagtcgtgat cagcctggcc aagccccaat 2581 gagacagagg agtgcaacaa ccactggttc tccaggaacc gaaaaggcga ggagtatagt 2641 acggcaaaaa actgtcgata ttgatgatgc tcaaatactt ccccgctcaa ctagagtcag 2701 acatttttca caaagtgaag aaactggaaa tgaagttttt ggtgctttga atgaggagca 2761 gccattgcct cgaagtagca gcacttctga catcttggaa ccattcactg ttgaacgagc 2821 caaagtcaat aaagaggaca tgagccaaaa actgcctcct cttaatagtg atattggcgg 2881 cagcagtgct aatgttcctg atctgatgga tgagtttata gcagaacgac ttcgaagtgg 2941 taatgcctcg actatgacaa gaagaggaag tagtccaggc agcctggaaa ttcccaaaga 3001 cctccctgat attctaaaca agcagaacca gatgcgccct attgatgacc caggtgtgcc 3061 ctcagaatgg acttctcctg ccagtgcagg gagcagtgat cttatcagct cagatagtca 3121 ttcggattct ttcagcgctt tccaatatga tggccgaaaa tttgacaatt ttggctttgg 3181 aaccgacact ggggttacgt cctctgctga tgtggattca ggttctggcc atcatcagag 3241 tgctgaagag caggaagtgg ctagtctaac tactcttcat atagattctg aaacaagcag 3301 tcttaatcag caagctttct ctgctgaagt tgcaactatt actggttcag aaagtgcttc 3361 cccagtccac tcacctctgg gctccaggtc acagactcct tccccttcta cattgaatat 3421 agatcacatg gaacagaagg atctgcagct cgacgagaag ctccaccact ctgttcttca 3481 gacaccagat gatctagaaa ttagtgaatt tccatcagaa tgttgtagtg tgatggcagg 3541 aggtactctg actggatggc atgctgatgt tgctactgta atgtggcgaa gaatgctagg 3601 cattttggga gatgtaaatt caatcatgga tcctgaaata catgctcaag tttttgatta 3661 cctctgtgaa ctttggcaga atctagctaa gattagagat aaccttggca tttcaactga 3721 taacctgacc tccccttctc caccagtttt aattcctcca ctgagaattc ttacaccttg 3781 gctttttaag gcaaccatgt tgactgataa atataaacaa ggtaaattac atgcatataa 3841 acttatttgt aatacaatga aaagaagaca agatgtttct ccaaatagag attttctaac 3901 acatttctac aatataatgc attgtggatt acttcatatt gaccaggata ttgtcaatac 3961 aatcatcaaa cactgctcac ctcaattttt ttcacttggt ttgcctggtg ccacaatgct 4021 tattatggat tttattgtag cagctggtag agtggcttct tcagcttttc tcaatgcacc 4081 aagagtagaa gcacaagttc ttctgggatc tttggtttgc tttcccaact tatattgtga 4141 actgccttct cttcatccca acattcctga tgttgctgtg tctcagttta cagatgttaa 4201 ggaacttata atcaaaactg tattaagctc ggcaagagat gagccctctg gtcctgcacg 4261 atgtgtagca ctttgtagtt taggtatttg gatttgtgaa gaactagtcc atgagtctca 4321 tcatcctcaa attaaggaag ctctgaatgt gatttgtgtt tccttaaagt ttactaataa 4381 aacagtagcc cacgtagctt gtaacatgct tcacatgctg gttcattatg tacctagact 4441 tcagatttac cagcctgatt ctcccttgaa aattattcaa atcctaatag ctaccatcac 4501 ccatctttta ccaagtacag aggcttcatc ttatgaaatg gacaagaggt tggtagtatc 4561 tttacttctc tgccttctgg actggatcat ggccttacct ctaaagacac tgctccaacc 4621 atttcatgct acgggagcag aaagcgataa aacagaaaaa tctgttctca attgcattta 4681 taaggtttta catgggtgtg tttatggagc tcagtgtttt agcaatccaa ggtattttcc 4741 catgagcctc tctgatttgg catctgtaga ttatgatcct tttatgcatt tggaaagtct 4801 gaaagagcct gagcctctgc actctcctga ctcagaacga tcttctaaac tccagccagt 4861 aacagaagtg aaaactcaaa tgcagcatgg attaatctct atagcagccc gcactgttat 4921 tacacatctg gtaaatcacc tgggccatta tccaatgagc ggtggtcctg ctatgctaac 4981 aagtcaggtg tgtgaaaatc acgacaatca ttacagtgaa agtactgaac tttctcctga 5041 actctttgag agtccaaata tccagttctt tgtgttaaat aatacaacct tagtgtcctg 5101 tatccagatc agatcagaag agaatatgcc tggaggaggt ttatctgctg gccttgcatc 5161 agccaattca aatgtcagaa tcatagtacg tgatctctct ggaaaatatt catgggattc 5221 tgctatactg tatggcccac ctcctgtaag tggcttgtca gaacctacat ctttcatgct 5281 ttcattgtct caccaagaga agccagaaga gcctccgaca tctaatgaat gcttagaaga 5341 tataaccgta aaagatggac tttctctcca gtttaaaaga tttagagaaa ctgtaccaac 5401 ttgggataca ataagagatg aagaagatgt tcttgatgag ctcttgcagt atttgggtgt 5461 tactagtcct gaatgcttac agagaactgg aatctcactt aatattcctg ctccacaacc 5521 tgtgtgcatt tctgaaaaac aagaaaatga tgttattaat gctatcctta agcaacatac 5581 agaagaaaaa gaatttgttg agaagcactt taatgactta aacatgaaag ctgtggaaca 5641 agatgaacca atacctcaaa aacctcagtc agcattttat tattgcagat tgcttcttag 5701 tatattggga atgaattcct gggacaaacg gaggagcttt catctcctga agaaaaatga 5761 aaagctactt agagaactta ggaacttgga ttcaaggcag tgccgagaga cacacaagat 5821 tgcagtattt tatgttgctg aaggacaaga agacaaacac tccattctca ccaatacagg 5881 aggaagtcaa gcatatgaag attttgtagc tggtcttggt tgggaggtaa atcttacaaa 5941 ccattgtggt tttatgggag gactacaaaa aaacaaaagc actggattga ccactccata 6001 ttttgctacc tctacagtag aggtaatatt tcacgtgtca acaagaatgc cttctgattc 6061 tgatgattct ttgaccaaaa aattgagaca tttgggaaat gatgaagtgc acattgtttg 6121 gtcagagcat actagagact acaggagagg aattattccc acagaatttg gtgatgtcct 6181 tattgtaata tatccaatga aaaatcacat gttcagtatt cagataatga aaaaaccaga 6241 ggttcccttc tttggtcccc tttttgatgg tgctattgtg aatggaaagg ttctacccat 6301 tatggttaga gcaacagcta taaatgcaag ccgtgctctg aaatctctga ttccattgta 6361 tcaaaacttc tatgaggaga gagcacgata cctgcaaaca attgtccagc accacttaga 6421 accaacaaca tttgaagatt ttgcagcaca ggttttttct ccagctccct accaccattt 6481 accatctgat gccgatcatt aaatatcagt tctgtttatc tgaaggctcc tacccagaga 6541 ttctacccag tgaaactccc acagcaacgc aggtagatgg ggctgacctg gcctctccaa 6601 tgtctcctcg aactagcaaa agccgcatgt ccatgaagct gcgtcgttcc tctggctcag 6661 ccaataaatc ctaaggagac aagcagccca gcagtgatca gcagtagcca ccttagcacg 6721 aacatagggt taaccctttc aggccttcat gtctgccata acatgcatgt ttcttcctgt 6781 acatttattt gagaaaacac tggatttaaa taattttaaa taatttgtag cttaatatta 6841 aagatttaag ttatttattg tttcattttt tttcccacaa tccaagctgc catattttga 6901 gggcaggggg agttttattc tacacccttt accttcctag ataattatgt ctaagtagtt 6961 ttatctttaa tttcatggtt aactgtgagc caaaatacaa ttggacaatt agtctcatta 7021 tttattgtgc cccattgcaa ctttatggtt caataaatat ataatttttt acaaatgtaa 7081 aattttacat ttaagcattt gtaaagttac agcaaaagat gtacctgtta atacacagaa 7141 tgtgtacaga ttatttgtta tgacaataaa acactcaaaa taaatggtct ttagcatctc 7201 aaattccaac tgaaatcatt ttagtattaa ctcttcttcc caaagcaatg tctcatttct 7261 tggctgtgca ggtgatgcca tgttatatcc aataactaga aaaatcactg tgctgaactt 7321 ttatgtttag cttccaagta tttttctaat gttttgcatt tcaagtggta tcactgttaa 7381 atgccatttg ttttcagatt gtggcctttt attattggct gctagatcct ggtgtttcta 7441 tgttcttttt taagcaccaa aaagaagatg gggaagaaaa gaaggaaaat tttctgatat 7501 aaatatgttg ttcaaattat gagtattatt taaaaaagaa aaaggaacat aacccaggag 7561 tctaagttaa atctaatatt gttaatactg aacttgcagg tccaggttgg tatacattcc 7621 accctctaga agtattttct tacagtagat aagctgctca cattttgttt tgaatgggca 7681 tctcctgagg aaatgtagca tgacattggt actaactgca tgtgtaaata catcatactg 7741 gcaaaccgta aaatataaat tatgtatcat cattcatgta gtatctataa tttgtaacag 7801 tgggggggaa agatgacatg gtatttaata atacaataaa aatattctta tcacttccta 7861 tccaaaaaaa aaaaaaaaaa aa //