LOCUS AJ314648 6245 bp mRNA linear HUM 07-OCT-2008 DEFINITION Homo sapiens mRNA for putative ATP(GTP)-binding protein. ACCESSION AJ314648 VERSION AJ314648.2 KEYWORDS ATP(GTP)-binding protein. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 AUTHORS Jenne D.E. JOURNAL Submitted (14-MAY-2001) to the INSDC. Jenne D.E., Neuroimmunology, Max-Planck-Institute of Neurobiology, Am Klopferspitz 18A, 82152, GERMANY. REMARK revised by [5] REFERENCE 2 AUTHORS Jenne D.E., Tinschert S., Reimann H., Lasinger W., Thiel G., Hameister H., Kehrer-Sawatzki H. TITLE Molecular characterization and gene content of breakpoint boundaries in NF1 patients with long range deletions JOURNAL Unpublished. REFERENCE 4 AUTHORS Jenne D.E., Tinschert S., Stegmann E., Reimann H., Nurnberg P. TITLE A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions JOURNAL Genomics 66(1), 93-97(2000). PUBMED 10843809 REFERENCE 5 (bases 1 to 6245) AUTHORS Jenne D.E. JOURNAL Submitted (24-JUN-2002) to the INSDC. Jenne D.E., Neuroimmunology, Max-Planck-Institute of Neurobiology, Am Klopferspitz 18A, 82152, GERMANY. COMMENT related entry AK022797 FEATURES Location/Qualifiers source 1..6245 /db_xref="H-InvDB:HIT000247144_03" /organism="Homo sapiens" /map="17q11.2" /mol_type="mRNA" /db_xref="taxon:9606" CDS 347..5881 /product="ATP(GTP)-binding protein" /note="ORF1" /db_xref="GOA:Q96QE3" /db_xref="H-InvDB:HIT000247144_03.4" /db_xref="HGNC:HGNC:25752" /db_xref="InterPro:IPR003593" /db_xref="InterPro:IPR003959" /db_xref="InterPro:IPR027417" /db_xref="UniProtKB/Swiss-Prot:Q96QE3" /citation=[2] /protein_id="CAC44537.2" /translation="MVGVLAMAAAAAPPPVKDCEIEPCKKRKKDDDTSTCKTITKYLS PLGKTRDRVFAPPKPSNILDYFRKTSPTNEKTQLGKECKIKSPESVPVDSNKDCTTPL EMFSNVEFKKKRKRVNLSHQLNNIKTENEAPIEISSDDSKEDYSLNNDFVESSTSVLR YKKQVEVLAENIQDTKSQPNTMTSLQNSKKVNPKQGTTKNDFKKLRKRKCRDVVDLSE SLPLAEELNLLKKDGKDTKQMENTTSHANSRDNVTEAAQLNDSIITVSYEEFLKSHKE NKVEEIPDSTMSICVPSETVDEIVKSGYISESENSEISQQVRFKTVTVLAQVHPIPPK KTGKIPRIFLKQKQFEMENSLSDPENEQTVQKRKSNVVIQEEELELAVLEAGSSEAVK PKCTLEERQQFMKAFRQPASDALKNGVKKSSDKQKDLNEKCLYEVGRDDNSKKIMENS GIQMVSKNGNLQLHTDKGSFLKEKNKKLKKKNKKTLDTGAIPGKNREGNTQKKETTFF LKEKQYQNRMSLRQRKTEFFKSSTLFNNESLVYEDIANDDLLKVSSLCNNNKLSRKTS IPVKDIKLTQSKAESEASLLNVSTPKSTRRSGRISSTPTTETIRGIDSDDVQDNSQLK ASTQKAANLSEKHSLYTAELITVPFDSESPIRMKFTRISTPKKSKKKSNKRSEKSEAT DGGFTSQIRKASNTSKNISKAKQLIEKAKALHISRSKVTEEIAIPLRRSSRHQTLPER KKLSETEDSVIIIDSSPTALKHPEKNQKKLQCLNDVLGKKLNTSTKNVPGKMKVAPLF LVRKAQKAADPVPSFDESSQDTSEKSQDCDVQCKAKRDFLMSGLPDLLKRQIAKKAAA LDVYNAVSTSFQRVVHVQQKDDGCCLWHLKPPSCPLLTKFKELNTKVIDLSKCGIALG EFSTLNSKLKSGNSAAVFMRTRKEFTEEVRNLLLEEIRWSNPEFSLKKYFPLLLKKQI EHQVLSSECHSKQELEADVSHKETKRKLVEAENSKSKRKKPNEYSKNLEKTNRKSEEL SKRNNSSGIKLDSSKDSGTEDMLWTEKYQPQTASELIGNELAIKKLHSWLKDWKRRAE LEERQNLKGKRDEKHEDFSGGIDFKGSSDDEEESRLCNTVLITGPTGVGKTAAVYACA QELGFKIFEVNASSQRSGRQILSQLKEATQSHQVDKQGVNSQKPCFFNSYYIGKSPKK ISSPKKVVTSPRKVPPPSPKSSGPKRALPPKTLANYFKVSPKPKNNEEIGMLLENNKG IKNSFEQKQITQTKSTNATNSNVKDVGAEEPSRKNATSLILFEEVDVIFDEDAGFLNA IKTFMATTKRPVILTTSDPTFSLMFDGCFEEIKFSTPSLLNVASYLQMICLTENFRTD VKDFVTLLTANTCDIRKSILYLQFWIRSGGGVLEERPLTLYRGNSRNVQLVCSEHGLD NKIYPKNTKKKRVDLPKCDSGCAETLFGLKNIFSPSEDLFSFLKHKITMKEEWHKFIQ LLTEFQMRNVDFLYSNLEFILPLPVDTIPETKNFCGPSVTVDASAATKSMNCLARKHS EREQPLKKSQKKKQKKTLVILDDSDLFDTDLDFPDQSISLSSVSSSSNAEESKTGDEE SKARDKGNNPETKKSIPCPPKTTAGKKCSALVSHCLNSLSEFMDNMSFLDALLTDVRE QNKYGRNDFSWTNGKVTSGLCDEFSLESNDGWTSQSSGELKAAAEALSFTKCSSAISK ALETLNSCKKLGRDPTNDLTFYVSQKRNNVYFSQSAANLDNAWKRISVIKSVFSSRSL LYVGNRQASIIEYLPTLRNICKTEKLKEQGKSKRRFLHYFEGIHLDIPKETVNTLAAD FP" BASE COUNT 2256 a 1109 c 1216 g 1664 t ORIGIN 1 tttcctccga agctctgtgg tccgatctgc ggtccgcttg ctttccctgc ccggtcccga 61 gcgctcagcc tgaagcgccg ctttcgaggg caccctgcat acactggccg cgcctcaggg 121 atctcattgc ccgcgctttc tcattgcctc tttccgtgtt cgattcggct gatctgggcc 181 cagcctccgc tcccgctctc tgtcggtggg cgcgggggaa tccgaaacgg ctcagcagaa 241 tcccagcagc ttgctgctac tggagcgggc cgcctccatg gcctccaggc aggccgggct 301 ggaccgcgtg aggtcctagg agacgggatt ccgggaagcg gggagtatgg tgggggtcct 361 ggccatggcg gctgcagctg ctccgcctcc cgtgaaggac tgcgagattg agccatgcaa 421 aaagcgaaag aaagatgatg acacatctac ctgcaaaaca attacaaaat atttatcacc 481 actagggaag actagagaca gggtttttgc tccaccaaaa cctagtaata ttctggatta 541 ttttagaaag acttcaccca caaatgagaa gacacaatta gggaaagagt gcaagataaa 601 gtcacctgaa tcagtacctg ttgacagcaa caaagactgt acgacacctt tggaaatgtt 661 ctcaaatgta gagtttaaga agaaaagaaa gagggttaat ttatctcatc aactaaataa 721 tattaaaact gaaaatgaag ctccaattga aattagtagc gacgatagca aagaagacta 781 tagtttaaat aatgattttg tggaaagtag tacttctgtt ttacgttaca agaaacaagt 841 agaggtactt gcagaaaaca ttcaagatac aaaaagtcaa ccaaatacta tgacctccct 901 gcaaaattct aaaaaagtaa atcctaaaca agggaccaca aaaaatgact tcaaaaagtt 961 gagaaaaagg aaatgcagag atgtagtaga tctatctgaa agcttaccct tggcagagga 1021 actaaatttg cttaaaaaag atggtaaaga tactaaacag atggagaata ctacaagcca 1081 tgcaaactct agagataacg taactgaagc agcccagtta aatgatagta taataactgt 1141 ctcatatgag gaatttttaa aaagtcacaa ggaaaataaa gtggaagaga taccagactc 1201 tacaatgtca atttgtgttc cttctgaaac tgtcgacgaa atagtcaaaa gtggttatat 1261 aagtgaatca gaaaactccg aaatttccca gcaggtacgc tttaagacag ttactgttct 1321 tgcacaggtt caccctattc cgcccaaaaa gacagggaaa ataccccgaa ttttcttgaa 1381 acaaaagcaa tttgaaatgg aaaatagttt atctgatcct gagaatgaac agacagttca 1441 gaaaagaaaa tctaatgttg ttatacagga ggaagaatta gaattggctg ttttggaagc 1501 tggaagttct gaagctgtga aaccaaaatg cactctagaa gaaagacagc aatttatgaa 1561 agcatttagg cagccagcat cagatgcact taaaaatgga gttaaaaagt cttctgataa 1621 gcagaaagac cttaatgaaa aatgtctata tgaagtagga agagatgata attctaaaaa 1681 aatcatggaa aattctggta tccaaatggt ttcaaaaaat ggcaatttac agttacacac 1741 tgataaagga agttttctga aggagaaaaa taaaaagcta aagaagaaga ataagaaaac 1801 attagatact ggggctattc caggcaaaaa cagagaggga aacactcaaa agaaagaaac 1861 aacctttttc ttaaaagaga aacaatatca aaatagaatg agtttaagac aaaggaaaac 1921 agagtttttc aaaagcagca ctttatttaa caatgaaagt cttgtttatg aagatatagc 1981 aaatgatgac cttctaaagg tttcctctct gtgtaacaat aataaattgt caagaaaaac 2041 cagcatacca gttaaagata ttaagcttac acagtctaaa gctgaatctg aagccagctt 2101 gctaaatgtt tccacgccca agtcaactag aagatctgga agaattagca gcacacctac 2161 tacagaaacc attagaggta ttgattctga cgatgtacaa gataatagtc aactaaaggc 2221 ttccactcaa aaagcagcca acttatcgga aaagcacagc ttatatacag cagaattaat 2281 aacagtaccc tttgattcag agagccctat tagaatgaaa ttcaccagaa ttagtactcc 2341 caaaaaatct aagaaaaaat ctaacaaaag atctgagaaa tctgaagcaa ctgatggagg 2401 ttttacttct cagattagaa aggcaagcaa tacttcaaaa aacatatcaa aagcaaaaca 2461 attgattgaa aaagcaaaag ctttacacat cagtaggtca aaggtgactg aagaaatagc 2521 gataccctta aggcgctcct ctagacatca gacacttcct gaaaggaaga aattgtcaga 2581 aacagaagat tctgttataa taatagattc aagtcctact gctttaaagc atccagagaa 2641 aaatcagaag aaacttcagt gtttgaatga tgtgctagga aaaaaactta acacatccac 2701 taaaaatgta cctggaaaaa tgaaagtcgc tcctttattt cttgtcagaa aagcacaaaa 2761 agcagctgat cctgtcccta gttttgatga aagcagtcaa gatacatctg aaaaatctca 2821 ggattgtgat gttcaatgta aagcaaagcg tgacttccta atgagtggtt tgccagattt 2881 gttgaaacgg caaattgcaa agaaagctgc tgcgctggat gtgtacaatg cagtgagtac 2941 cagtttccag agagtcgtac atgtgcaaca aaaggatgat gggtgttgtt tgtggcattt 3001 gaaaccaccc tcttgtcctc tcttaactaa atttaaagaa ctgaacacta aagtaataga 3061 tctctcaaaa tgtggtattg ctcttggtga attttcaaca ttgaattcaa agttgaaaag 3121 cggtaactct gctgctgtgt tcatgaggac aaggaaggaa tttactgaag aagtaagaaa 3181 tcttttgctt gaggaaatta ggtggtcaaa tcctgaattt tcattgaaaa aatattttcc 3241 cttactccta aaaaaacaaa ttgagcacca agtactttct tccgagtgtc atagtaaaca 3301 agaactggag gctgatgtca gccataaaga aaccaaaagg aaactcgtag aagcagaaaa 3361 ttctaagtca aaaagaaaga aaccaaatga gtattcaaaa aatctggaga agaccaatag 3421 gaagtcagaa gaacttagca aaagaaacaa ctcttctggg ataaagctag attcttccaa 3481 agattctgga actgaagaca tgctttggac agaaaagtat caacctcaga ctgccagtga 3541 acttatagga aatgagttag ctataaaaaa gttacatagt tggttgaaag actggaaaag 3601 aagagctgaa ttggaagaaa ggcagaatct gaagggaaaa agagatgaga aacatgaaga 3661 tttctcgggt ggcatagact ttaaaggcag ttcagatgat gaagaagaga gtcgtctttg 3721 caatactgtc cttataacag ggccaacagg agtgggaaaa actgctgcag tgtatgcttg 3781 tgcccaggag cttggattta agatatttga agtgaatgcc tcttcccagc gcagtggtag 3841 acaaattcta tctcagttga aggaagctac tcagtcccat caagtagaca aacaaggtgt 3901 aaactcacaa aaaccctgtt tttttaatag ctactacata ggcaagtcac caaaaaaaat 3961 aagctcccct aagaaagttg ttacatcacc aagaaaagtt cctccaccat caccaaaaag 4021 tagtggacca aagcgagcac ttcctcccaa aaccttggca aattatttta aagtatctcc 4081 caaacctaaa aataatgaag aaataggaat gcttctggaa aataataaag gaataaaaaa 4141 ttcttttgaa cagaaacaaa ttactcagac taaatctaca aatgcaacta attcaaatgt 4201 caaagacgtt ggagctgaag aacccagcag aaaaaatgca acatctctta ttctttttga 4261 ggaggttgat gtaatttttg atgaagatgc tgggtttttg aatgcaatca aaacattcat 4321 ggcaacaact aaacgacctg taatccttac tacaagtgac ccaacattta gtttaatgtt 4381 tgatggctgc tttgaagaaa tcaagttcag tactccttcc ctgctaaatg ttgccagcta 4441 cctacaaatg atttgcttaa ctgagaattt tagaactgat gtaaaagact ttgtaacctt 4501 gttaactgca aatacttgtg atatcagaaa aagtatcctt tacttacaat tctggattag 4561 aagtggaggt ggagttttag aagaacgacc attaaccctt tatcgtggaa atagcagaaa 4621 tgtacaacta gtttgctctg aacatggcct tgataacaaa atttacccta aaaatactaa 4681 aaagaaacgt gtagaccttc caaaatgtga cagtggctgt gctgagacct tgtttggcct 4741 taagaacatt ttttccccat ctgaagactt attttcattt ttaaagcaca aaatcacaat 4801 gaaggaagaa tggcataaat tcatccagct tcttacagaa ttccaaatgc ggaatgtaga 4861 ttttttatat agtaatcttg agtttattct accattacca gttgatacca ttccagaaac 4921 taaaaacttt tgtggcccat cagtaactgt ggatgccagt gcagcaacaa aaagtatgaa 4981 ttgtcttgct aggaaacact ctgaaagaga acagccattg aaaaagtccc agaaaaagaa 5041 acaaaagaaa acattggtaa tattagatga tagtgatcta tttgacactg acttggactt 5101 tcctgatcaa tctattagcc tgtcctctgt atcatcttcc tcaaatgcag aagaaagcaa 5161 aaccggagac gaagaaagca aagccagaga caaaggaaac aatccagaga caaagaaatc 5221 tattccttgt cctcctaaaa caactgcagg aaaaaaatgt tctgcccttg tttctcattg 5281 tttaaattct ctctctgagt tcatggataa catgtccttc ttagatgcac ttttaactga 5341 tgtaagggaa caaaacaaat acggtagaaa tgactttagt tggacaaatg gaaaggttac 5401 aagtggactt tgtgatgagt ttagtcttga gagtaatgat ggatggactt ctcaaagctc 5461 tggagaatta aaggcagctg cagaagctct cagctttact aaatgttctt ctgctatttc 5521 aaaagcattg gaaaccttga attcttgcaa gaaattagga agagatccaa ccaacgatct 5581 tactttttat gtttcacaaa agcgcaataa tgtatacttt agtcagtcag cagctaattt 5641 agacaatgct tggaagagga tatcagtcat taaaagtgta ttttcgagtc gatctcttct 5701 ctatgtgggt aatagacaag ctagtataat tgaatacctg ccaacccttc gaaacatctg 5761 taagactgag aagctaaaag aacaaggaaa aagtaaaaga agattcctgc actattttga 5821 aggaattcat cttgacattc caaaagagac tgtgaatact ttggcagctg acttccctta 5881 atgttccata ctaacaatgc tttgtataga ttatcatgtg gtccttaaga tacattttta 5941 tattatgtgg atcttcatgg aaaagtatat ttctcgatgt acattttaaa caaacaattt 6001 gtatattttt ttattggcgg gtaaatattt aaaatatttg agttacaaat tttatatatg 6061 attgtaattt tttttctgaa ttttttgtat tatctgattt agctttgttg gagtattttt 6121 tgtatgtgag tgaactgttt ctggaaggta gagttcatta agatgaactc cctatttcaa 6181 gtgtttatat tatatattag cttaatattc agatacatta tcttggctgc taacattagt 6241 gtcac //