LOCUS AJ314645 1306 bp mRNA linear HUM 07-OCT-2008 DEFINITION Homo sapiens mRNA for hypothetical protein and STS SHGC-2390. ACCESSION AJ314645 VERSION AJ314645.1 KEYWORDS alternative splicing; 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 1306) 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Molecular characterization and gene content of breakpoint boundaries in NF1 patients with long range deletions JOURNAL Unpublished.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 splice variant AK026382 related entries STS AA251555, AA251657 FEATURES Location/Qualifiers source 1..1306 /db_xref="H-InvDB:HIT000247141" /organism="Homo sapiens" /map="17q11.2" /mol_type="mRNA" /db_xref="taxon:9606" mRNA 1..1306 /product="hypothetical protein" /note="ORF1" exon 1..68 /number=1 /note="ORF1" CDS 38..1120 /product="hypothetical protein" /function="unknown" /note="ORF1" /note="alternative splicing" /db_xref="GOA:Q96QE5" /db_xref="H-InvDB:HIT000247141.14" /db_xref="HGNC:HGNC:26223" /db_xref="InterPro:IPR010994" /db_xref="InterPro:IPR012337" /db_xref="InterPro:IPR039150" /db_xref="PDB:5OL8" /db_xref="PDB:5OL9" /db_xref="PDB:5OLA" /db_xref="UniProtKB/Swiss-Prot:Q96QE5" /citation=[3] /protein_id="CAC44534.1" /translation="MSGSVLFTAGERWRCFLTPSRSSLYWALHNFCCRKKSTTPKKIT PNVTFCDENAKEPENALDKLFSSEQQASILHVLNTASTKELEAFRLLRGRRSINIVEH RENFGPFQNLESLMNVPLFKYKSTVQVCNSILCPKTGREKRKSPENRFLRKLLKPDIE RERLKAVNSIISIVFGTRRIAWAHLDRKLTVLDWQQSDRWSLMRGIYSSSVYLEEISS IISKMPKADFYVLEKTGLSIQNSSLFPILLHFHIMEAMLYALLNKTFAQDGQHQVLSM NRNAVGKHFELMIGDSRTSGKELVKQFLFDSILKADPRVFFPSDKIVHYRQMFLSTEL QRVEELYDSLLQAIAFYELAVFDSQP" exon 69..532 /number=2 /note="ORF1" exon 533..682 /number=3 /note="ORF1" exon 683..1306 /number=4 /note="ORF1" STS 750..912 /standard_name="SHGC-2390" /experiment="experimental evidence, no additional details recorded" regulatory 1286..1291 /note="ORF1" /regulatory_class="polyA_signal_sequence" BASE COUNT 403 a 248 c 272 g 383 t ORIGIN 1 aatggaggaa gactggacct actgattcaa cttggagatg agcgggtctg tcctcttcac 61 ggcgggagag aggtggagat gctttctgac cccgtcgagg tcatccctgt actgggcctt 121 acataatttc tgctgtcgga aaaaatccac tacacctaag aaaattactc ccaatgttac 181 tttttgtgat gaaaatgcaa aggagcccga aaatgcactt gacaagctct tctcttcaga 241 acagcaggct tccatcttgc atgtgttgaa tacagcatct actaaagaac ttgaagcttt 301 ccgattgctt cgtggaagaa ggtccatcaa tatcgtagag cacagagaaa actttgggcc 361 atttcagaat ttagagagtt taatgaatgt gcccttgttt aagtataaaa gtacagttca 421 agtttgtaac tccatacttt gtccaaagac tggacgggaa aaaagaaagt caccggaaaa 481 ccggttcctg agaaagctcc tcaaaccaga catagaaaga gaaagactta aggcagttaa 541 tagtatcata tctatcgttt ttggtactcg aagaattgcc tgggctcacc ttgatcgtaa 601 gttgacagtg ctggactggc agcaaagtga ccgttggagt ttaatgagag gaatatactc 661 atcatcagtc tatttagaag agatttcctc gatcatttca aagatgccta aagcagattt 721 ctatgttctg gaaaaaacag gactttccat tcagaactca tctctgtttc caatactgtt 781 acattttcat atcatggaag ccatgctgta tgccttatta aataaaactt ttgcccagga 841 tgggcagcat caggtgctga gcatgaatcg aaatgcagtg gggaagcatt ttgaactgat 901 gattggtgac tcccggacta gtggaaaaga gctagtgaag cagtttctct tcgattctat 961 actgaaggcg gatcctcggg tgttcttccc atcagataaa atagttcact acagacagat 1021 gtttttatct actgaactac aaagagtaga agagctttat gattcattat tacaagctat 1081 tgccttctat gaattagcag tgtttgactc tcagccttag aattctgagg ttaacgtgct 1141 aaagtataat tattagctct aacgtaacac caactgttgt gaacatccat gttattggaa 1201 aagaacacat tttcagtgta ttttagatgt ttaaattctg acttttggct attaaatggt 1261 ttacacaata agccaagacc aaatcaataa acattttatg agattc //