LOCUS       FM246458                1008 bp    mRNA    linear   HUM 23-OCT-2008
DEFINITION  Homo sapiens mRNA for tumor necrosis factor receptor superfamily
            member 6 (TNFRSF6 gene), patient MRR.
ACCESSION   FM246458
VERSION     FM246458.1
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 1008)
  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  JOURNAL   Unpublished.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..1008
                     /db_xref="H-InvDB:HIT000559129"
                     /organism="Homo sapiens"
                     /isolate="patient MRR"
                     /mol_type="mRNA"
                     /isolation_source="patient suffering from autoimmune
                     lymphoproliferative syndrome type Ia"
                     /cell_type="T lymphocyte"
                     /db_xref="taxon:9606"
     CDS             1..1008
                     /gene="TNFRSF6"
                     /product="tumor necrosis factor receptor superfamily
                     member 6"
                     /function="apoptosis"
                     /db_xref="GOA:P25445"
                     /db_xref="H-InvDB:HIT000559129.4"
                     /db_xref="HGNC:HGNC:11920"
                     /db_xref="InterPro:IPR000488"
                     /db_xref="InterPro:IPR001368"
                     /db_xref="InterPro:IPR008063"
                     /db_xref="InterPro:IPR011029"
                     /db_xref="InterPro:IPR033998"
                     /db_xref="InterPro:IPR033999"
                     /db_xref="PDB:1BZI"
                     /db_xref="PDB:1DDF"
                     /db_xref="PDB:2NA7"
                     /db_xref="PDB:3EWT"
                     /db_xref="PDB:3EZQ"
                     /db_xref="PDB:3THM"
                     /db_xref="PDB:3TJE"
                     /db_xref="UniProtKB/Swiss-Prot:P25445"
                     /protein_id="CAR92543.1"
                     /translation="MLGIWTLLPLVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTV
                     ETQNLEGLHHDGQFCHKPCPPGERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCR
                     RCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDPCTKCEHGIIKECTLT
                     SNTKCKEEGSRSNLGWLCLLLLPIPLIVWVKRKEVQKTCRKHRKENQGSHESPTLNPE
                     TVAINLSDVDLSKYITTIAGVMTPSQVKGFVRKNGVNEAKIDEIKNDNVQDTAEQKVQ
                     LLRNWHQLHGKKEAYDTLIKDLKKANLCTLAEKIQTIILKDITSDSENSNFRNEIQSL
                     V"
     variation       725
                     /replace="t"
                     /compare=X63717.1
                     /note="missense mutation"
BASE COUNT          343 a          205 c          217 g          243 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 aaatatatca ccactattgc tggagtcatg
      721 acaccaagtc aagttaaagg ctttgttcga aagaatggtg tcaatgaagc caaaatagat
      781 gagatcaaga atgacaatgt ccaagacaca gcagaacaga aagttcaact gcttcgtaat
      841 tggcatcaac ttcatggaaa gaaagaagcg tatgacacat tgattaaaga tctcaaaaaa
      901 gccaatcttt gtactcttgc agagaaaatt cagactatca tcctcaagga cattactagt
      961 gactcagaaa attcaaactt cagaaatgaa atccaaagct tggtctag
//