LOCUS       FM246459                1009 bp    mRNA    linear   HUM 23-OCT-2008
DEFINITION  Homo sapiens mRNA for truncated tumor necrosis factor receptor
            superfamily member 6 protein (TNFRSF6 gene), patient JBB.
ACCESSION   FM246459
VERSION     FM246459.1
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 1009)
  AUTHORS   De La Calle-Martin O.
  JOURNAL   Submitted (16-OCT-2008) to the INSDC. De La Calle-Martin O.,
            Immunology, Hospital De Sant Pau, Padre Claret 167, E-08025, SPAIN.
REFERENCE   2
  AUTHORS   Gonzalez-Santesteban C.P.
  TITLE     Molecular analysis of the mutant CD8 glycoprotein responsible for
            familial CD8 deficiency
  JOURNAL   Unpublished.
FEATURES             Location/Qualifiers
     source          1..1009
                     /db_xref="H-InvDB:HIT000559130"
                     /organism="Homo sapiens"
                     /isolate="patient JBB"
                     /mol_type="mRNA"
                     /isolation_source="patient suffering from autoimmune
                     lymphoproliferative syndrome type Ia"
                     /cell_type="T lymphocyte"
                     /db_xref="taxon:9606"
     CDS             1..738
                     /gene="TNFRSF6"
                     /product="truncated tumor necrosis factor receptor
                     superfamily member 6"
                     /function="apoptosis"
                     /db_xref="GOA:B6VNV5"
                     /db_xref="H-InvDB:HIT000559130.4"
                     /db_xref="InterPro:IPR001368"
                     /db_xref="InterPro:IPR008063"
                     /db_xref="InterPro:IPR033999"
                     /db_xref="UniProtKB/TrEMBL:B6VNV5"
                     /protein_id="CAR92544.1"
                     /translation="MLGIWTLLPLVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTV
                     ETQNLEGLHHDGQFCHKPCPPGERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCR
                     RCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDPCTKCEHGIIKECTLT
                     SNTKCKEEGSRSNLGWLCLLLLPIPLIVWVKRKEVQKTCRKHRKENQGSHESPTLNPE
                     TVAINLSDVDLSKYYHHYCWSHDTKSS"
     variation       696
                     /replace=""
                     /compare=X63717.1
                     /note="insertion causes frameshift mutation"
BASE COUNT          343 a          204 c          217 g          245 t
ORIGIN      
        1 atgctgggca tctggaccct cctacctctg gttcttacgt ctgttgctag attatcgtcc
       61 aaaagtgtta atgcccaagt gactgacatc aactccaagg gattggaatt gaggaagact
      121 gttactacag ttgagactca gaacttggaa ggcctgcatc atgatggcca attctgccat
      181 aagccctgtc ctccaggtga aaggaaagct agggactgca cagtcaatgg ggatgaacca
      241 gactgcgtgc cctgccaaga agggaaggag tacacagaca aagcccattt ttcttccaaa
      301 tgcagaagat gtagattgtg tgatgaagga catggcttag aagtggaaat aaactgcacc
      361 cggacccaga ataccaagtg cagatgtaaa ccaaactttt tttgtaactc tactgtatgt
      421 gaacactgtg acccttgcac caaatgtgaa catggaatca tcaaggaatg cacactcacc
      481 agcaacacca agtgcaaaga ggaaggatcc agatctaact tggggtggct ttgtcttctt
      541 cttttgccaa ttccactaat tgtttgggtg aagagaaagg aagtacagaa aacatgcaga
      601 aagcacagaa aggaaaacca aggttctcat gaatctccaa ctttaaatcc tgaaacagtg
      661 gcaataaatt tatctgatgt tgacttgagt aaatattatc accactattg ctggagtcat
      721 gacactaagt caagttaaag gctttgttcg aaagaatggt gtcaatgaag ccaaaataga
      781 tgagatcaag aatgacaatg tccaagacac agcagaacag aaagttcaac tgcttcgtaa
      841 ttggcatcaa cttcatggaa agaaagaagc gtatgacaca ttgattaaag atctcaaaaa
      901 agccaatctt tgtactcttg cagagaaaat tcagactatc atcctcaagg acattactag
      961 tgactcagaa aattcaaact tcagaaatga aatccaaagc ttggtctag
//