LOCUS AJ314647 3017 bp mRNA linear HUM 07-OCT-2008 DEFINITION Homo sapiens mRNA for hypothetical protein and STS WI12393. ACCESSION AJ314647 VERSION AJ314647.1 KEYWORDS ORF1. 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 3017) 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. 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Molecular characterization and gene content of breakpoint boundaries in NF1 patients with long range deletions JOURNAL Unpublished.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 3 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 COMMENT related entry AB011135 FEATURES Location/Qualifiers source 1..3017 /db_xref="H-InvDB:HIT000247143" /organism="Homo sapiens" /map="17q11.2" /mol_type="mRNA" /db_xref="taxon:9606" mRNA 1..3017 /product="hypothetical protein" /note="ORF1" CDS 1..2841 /product="hypothetical protein" /note="ORF1" /db_xref="GOA:Q96QE4" /db_xref="H-InvDB:HIT000247143.12" /db_xref="HGNC:HGNC:29070" /db_xref="InterPro:IPR001611" /db_xref="InterPro:IPR003591" /db_xref="InterPro:IPR015753" /db_xref="InterPro:IPR029423" /db_xref="InterPro:IPR032675" /db_xref="InterPro:IPR032754" /db_xref="UniProtKB/Swiss-Prot:Q96QE4" /citation=[2] /protein_id="CAC44536.1" /translation="MSWLRITAMAPPYVATIVFTSQGAQPLVWVKDPLQLTSNPLGPP EPWSSRSSHLPWESPHAPAPPAAPGDFDYLGPSASSQMSALPQEPTENLAPFLKELDS AGELPLGPEPFLAAHQDLNDKRTPEERLPEVVPLLNRDQNQALVQLPRLKWVQTTDLD RAAGHQADEILVPLDSKVSRPTKFVVSPKNLKKDLAERWSLPEIVGIPHQLSKPQRQK QTLPDDYLSMDTLYPGSLPPELRVNADEPPGPPEQVGLSQFHLEPKSQNPETLEDIQS SSLQEEAPAQLLQLPQEVEPSTQQEAPALPPESSMESLAQTPLNHEVTVQPPGEDQAH YNLPKFTVKPADVEVTMTSEPKNETESTQAQQEAPIQPPEEAEPSSTALRTTDPPPEH PEVTLPPSDKGQAQHSHLTEATVQPLDLELSITTEPTTEVKPSPTTEETSAQPPDPGL AITPEPTTEIGHSTALEKTRAPHPDQVQTLHRSLTEVTGPPTKLESSQDSLVQSETAP EEQKASTSTNICELCTCGDETLSCVGLSPKQRLRQVPVPEPDTYNGIFTTLNFQGNYI SYLDGNVWKAYSWTEKLILSENYLTELPKDSFEGLLSLQYLDLSCNKIRYIERHTFES LPFLQYINLGCNLITELSLGTFQAWHGMQFLHNLILNRNPLTTVEDPYLFELPALKYL DMGTTHITLTTLKNILTMTVELEKLILPSHMACCLCQFKNSIEAVCKTVKLHCNTACL TNSIHCPEEASVGNPEGAFMKMLQARKQHMSTQLTIESEAPSDSSGINLSGFGGDQLE IQLTEQLRSLIPNEDVRKFMSHVIRTLKMECSETHVQGSCAKLMLRTGLLMKLLSEQQ EAKALNVEWDTDQQKTNYINENMEQNEQKEQKSSELMKEVPGDDYKNKLIFAISVTVI LIILIIIFCLIEVNSHKRASEKYKDNPSISGA" exon 1..1676 /number=1 /note="ORF1" exon 1677..1748 /number=2 /note="ORF1" exon 1749..1820 /number=3 /note="ORF1" exon 1821..1892 /number=4 /note="ORF1" exon 1893..1973 /number=5 /note="ORF1" exon 1974..2045 /number=6 /note="ORF1" exon 2046..2120 /number=7 /note="ORF1" exon 2121..2239 /number=8 /note="ORF1" exon 2240..2380 /number=9 /note="ORF1" exon 2381..2673 /number=10 /note="ORF1" exon 2674..2778 /number=11 /note="ORF1" STS 2777..2882 /standard_name="WI12393" /citation=[2] exon 2779..3017 /number=12 /note="ORF1" regulatory 2976..2981 /note="ORF1" /citation=[2] /experiment="experimental evidence, no additional details recorded" /regulatory_class="polyA_signal_sequence" BASE COUNT 887 a 767 c 643 g 720 t ORIGIN 1 atgtcttggc tgcgtattac tgccatggcc cctccttacg tggcaactat tgtctttact 61 agtcaaggag ctcagcctct ggtgtgggtc aaggacccgc tccagctgac ctctaacccc 121 ctggggccac ctgagccctg gtcttcccgc tcctcccatc tcccatggga atctccccat 181 gcacctgctc ccccagcagc cccgggggac tttgattacc tggggccctc tgcttcttcg 241 cagatgtcag ccctgcctca ggaaccaact gaaaatttgg ctccattcct gaaggaattg 301 gattcagctg gagagctgcc cctggggcca gagccgttct tggctgcaca tcaggactta 361 aatgacaagc ggactccaga agaaaggctc ccagaggtgg ttccgcttct caaccgggat 421 cagaaccagg ccctagttca gcttcctcgc ctcaagtggg ttcaaactac agatctagat 481 cgggctgcag gtcatcaggc agatgaaata cttgttccac tagacagtaa ggtttcaaga 541 ccaaccaaat ttgttgtttc gcccaagaac ctgaagaaag atctagctga acgttggagc 601 cttcctgaga ttgttgggat tccacaccaa ttatccaaac ctcagcgtca gaaacagact 661 ttgccagatg attatttgag tatggacaca ctgtatcccg gcagcctacc tccagaactc 721 cgggtgaacg cagatgagcc tccagggcct cctgagcaag ttggactttc tcaattccat 781 ctagagccca aaagtcaaaa tccagagacc cttgaagaca tccagtcctc ttcactccag 841 gaagaagccc cagcgcagct tctacagctc cctcaggagg tagaaccttc aacccagcag 901 gaggccccag ctctgcctcc agagtcctct atggagagtc tagctcaaac tccactgaat 961 catgaagtga cagttcaacc tccaggtgag gatcaagctc attataattt gcccaagttt 1021 acagtcaaac ctgcagatgt ggaggttacc atgacttcag agcctaaaaa tgagacagaa 1081 tctacccaag cccagcagga ggccccaatt cagcctcccg aggaggcgga accttcttct 1141 acagccctga ggactacaga tcctcctcca gaacaccctg aggtgacact tccaccttca 1201 gacaagggtc aggctcagca ttcacacctg actgaagcca cagttcaacc tctggacctg 1261 gagcttagca taactacaga gcctactaca gaggttaaac cgtctccaac cacggaggaa 1321 acctcagctc agcctccaga cccggggctt gccataactc cagaacccac tacagagatt 1381 ggacattcca cagccctgga gaagactaga gctcctcatc cagaccaggt tcagactctg 1441 catcgaagcc tgactgaagt cacaggtcca cctacaaagt tagaatcttc gcaggattca 1501 ttggtgcagt ctgaaactgc accagaggaa cagaaggcct ccacaagcac caacatatgt 1561 gagctctgca cctgcggaga tgagactctg tcatgtgttg gtctcagccc aaagcagagg 1621 ctccgccaag tgcctgtgcc agagcccgac acctacaatg gcatcttcac caccttaaat 1681 ttccaaggaa actatatttc ataccttgat ggaaatgtat ggaaagcata cagttggacc 1741 gagaaactaa ttctcagtga aaattatttg actgaattac ctaaggattc atttgaaggc 1801 ctgctatccc tccagtattt agatttatcc tgcaataaaa tacgatatat tgaaagacat 1861 acatttgaat cactaccatt tttgcagtat ataaatctgg gctgcaattt aattacagaa 1921 ctgagccttg gaacatttca ggcctggcac ggaatgcagt ttttacacaa cttaattctc 1981 aatcgcaatc ctctgactac tgtcgaagat ccatatctct ttgaactgcc ggcattaaaa 2041 tatctagaca tgggaacaac acacatcaca cttacaacac ttaagaacat tctcacgatg 2101 actgttgaac tggaaaaact gatcttacct agccatatgg cctgctgcct ctgccaattt 2161 aaaaatagca ttgaggctgt ctgcaagaca gtcaagctgc attgcaacac tgcatgtctg 2221 actaacagca tacattgtcc tgaagaagca tctgtaggga atccagaagg agcgttcatg 2281 aagatgttac aagcccggaa gcagcacatg agcactcagc tgactattga gtcggaggcg 2341 ccctcagaca gcagtggcat caacttgtca ggctttgggg gtgatcagct tgaaattcag 2401 ctaaccgagc agctacggtc cctcatcccc aacgaggatg tgagaaagtt catgtctcat 2461 gttatccgga ccttgaaaat ggaatgttca gaaacacatg tgcaagggag ctgtgccaag 2521 ctcatgttgc gaacaggcct cctgatgaag cttctcagcg agcagcagga agcaaaggca 2581 ttgaatgtag aatgggatac ggaccaacaa aaaacaaatt atattaatga gaacatggaa 2641 cagaatgaac agaaagagca gaagtcaagt gagctcatga aagaagttcc aggagatgac 2701 tataagaaca aactcatctt cgcaatatct gtgactgtaa tactaataat tttgattata 2761 attttttgtc ttatagaggt gaattcacat aaaagggcat cagaaaaata caaagacaac 2821 ccatcaatat caggagcctg agcatgagtt aaagcatgtg gatggcctgg agctatgttt 2881 ttaaaattgt tattaaatat tggtttttta cttaaatcaa tgaaaacttt ctttactttg 2941 tggttgtgtt cctcaaaatg agaattttta acaataataa aaataaagct tgttagatca 3001 tttttaatgg taaaaaa //