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  JOURNAL   Unpublished.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
//