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C.P. TITLE Molecular analysis of the mutant CD8 glycoprotein responsible for familial CD8 deficiency JOURNAL Unpublished.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