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C.P. TITLE Molecular analysis of the mutant CD8 glycoprotein responsible for familial CD8 deficiency JOURNAL Unpublished.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 //