2024-03-28 19:07:54, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_033356 2655 bp mRNA linear PRI 09-JUN-2013 DEFINITION Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant C, mRNA. ACCESSION NM_033356 VERSION NM_033356.3 GI:122056471 KEYWORDS RefSeq. 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 2655) AUTHORS Hong,S., Kim,H.Y., Kim,J., Ha,H.T., Kim,Y.M., Bae,E., Kim,T.H., Lee,K.C. and Kim,S.J. TITLE Smad7 protein induces interferon regulatory factor 1-dependent transcriptional activation of caspase 8 to restore tumor necrosis factor-related apoptosis-inducing ligand (TRAIL)-mediated apoptosis JOURNAL J. Biol. Chem. 288 (5), 3560-3570 (2013) PUBMED 23255602 REMARK GeneRIF: Smad7 was able to activate the caspase 8 promoter through recruitment of the interferon regulatory factor 1 (IRF1) transcription factor to the interferon-stimulated response element (ISRE) site. REFERENCE 2 (bases 1 to 2655) AUTHORS Apelbaum,A., Yarden,G., Warszawski,S., Harari,D. and Schreiber,G. TITLE Type I interferons induce apoptosis by balancing cFLIP and caspase-8 independent of death ligands JOURNAL Mol. Cell. Biol. 33 (4), 800-814 (2013) PUBMED 23230268 REMARK GeneRIF: Apoptosis-related genes such as the caspase-8, FLIP, and DR5 genes specifically interfere with interferon-induced apoptosis. REFERENCE 3 (bases 1 to 2655) AUTHORS Erdman,V.V., Nasibullin,T.R., Tuktarova,I.A. and Mustafina,O.E. TITLE [Association of polymorphic markers of CASP8, BCL2 and BAX genes with aging and longevity] JOURNAL Adv Gerontol 25 (3), 398-404 (2012) PUBMED 23289213 REMARK GeneRIF: An increase of genotype frequency of BCL2*C/*C and decrease of genotype frequency of CASP8*I/*D was observed in male of senile age REFERENCE 4 (bases 1 to 2655) AUTHORS Li,S.X., Chai,L., Cai,Z.G., Jin,L.J., Chen,Y., Wu,H.R. and Sun,Z. TITLE Expression of survivin and caspase 3 in oral squamous cell carcinoma and peritumoral tissue JOURNAL Asian Pac. J. Cancer Prev. 13 (10), 5027-5031 (2012) PUBMED 23244104 REMARK GeneRIF: Low expression of caspase 3 is associated with oral squamous cell carcinoma and peritumoral tissue. REFERENCE 5 (bases 1 to 2655) AUTHORS Kominami,K., Nagai,T., Sawasaki,T., Tsujimura,Y., Yashima,K., Sunaga,Y., Tsuchimochi,M., Nishimura,J., Chiba,K., Nakabayashi,J., Koyamada,K., Endo,Y., Yokota,H., Miyawaki,A., Manabe,N. and Sakamaki,K. TITLE In vivo imaging of hierarchical spatiotemporal activation of caspase-8 during apoptosis JOURNAL PLoS ONE 7 (11), E50218 (2012) PUBMED 23185580 REMARK GeneRIF: Focal activation of CASP8 is sufficient to propagate apoptotic signals through death receptors. REFERENCE 6 (bases 1 to 2655) AUTHORS Breckenridge,D.G., Nguyen,M., Kuppig,S., Reth,M. and Shore,G.C. TITLE The procaspase-8 isoform, procaspase-8L, recruited to the BAP31 complex at the endoplasmic reticulum JOURNAL Proc. Natl. Acad. Sci. U.S.A. 99 (7), 4331-4336 (2002) PUBMED 11917123 REFERENCE 7 (bases 1 to 2655) AUTHORS Fernandes-Alnemri,T., Takahashi,A., Armstrong,R., Krebs,J., Fritz,L., Tomaselli,K.J., Wang,L., Yu,Z., Croce,C.M., Salveson,G. et al. TITLE Mch3, a novel human apoptotic cysteine protease highly related to CPP32 JOURNAL Cancer Res. 55 (24), 6045-6052 (1995) PUBMED 8521391 REFERENCE 8 (bases 1 to 2655) AUTHORS Fernandes-Alnemri,T., Litwack,G. and Alnemri,E.S. TITLE CPP32, a novel human apoptotic protein with homology to Caenorhabditis elegans cell death protein Ced-3 and mammalian interleukin-1 beta-converting enzyme JOURNAL J. Biol. Chem. 269 (49), 30761-30764 (1994) PUBMED 7983002 REFERENCE 9 (bases 1 to 2655) AUTHORS DuBridge,R.B., Tang,P., Hsia,H.C., Leong,P.M., Miller,J.H. and Calos,M.P. TITLE Analysis of mutation in human cells by using an Epstein-Barr virus shuttle system JOURNAL Mol. Cell. Biol. 7 (1), 379-387 (1987) PUBMED 3031469 REFERENCE 10 (bases 1 to 2655) AUTHORS Clements,G.B., Klein,G. and Povey,S. TITLE Production by EBV infection of an EBNA-positive subline from an EBNA-negative human lymphoma cell line without detectable EBV DNA JOURNAL Int. J. Cancer 16 (1), 125-133 (1975) PUBMED 170210 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL601594.1, X98173.1, BC028223.2, AC007256.5 and AI351872.1. On Jan 12, 2007 this sequence version replaced gi:73623020. Summary: This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (C) includes a different segment in the 5' UTR and lacks an alternate in-frame segment in the coding region, compared to variant G. Variants C and F both encode isoform C, which is shorter than isoform G. Isoform C has also been labelled as Alpha-2 or MCH5-beta. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X98173.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025086 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-68 AL601594.1 2-69 69-1052 X98173.1 1-984 1053-1496 BC028223.2 1121-1564 1497-2380 AC007256.5 130031-130914 c 2381-2655 AI351872.1 1-275 c FEATURES Location/Qualifiers source 1..2655 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2q33-q34" gene 1..2655 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /note="caspase 8, apoptosis-related cysteine peptidase" /db_xref="GeneID:841" /db_xref="HGNC:1509" /db_xref="HPRD:03459" /db_xref="MIM:601763" exon 1..114 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /inference="alignment:Splign:1.39.8" variation 19 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="g" /replace="t" /db_xref="dbSNP:373656272" variation 40 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:138430949" variation 60 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:368653534" variation 84 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:142930440" misc_feature 111..113 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /note="upstream in-frame stop codon" variation 114 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:187440338" exon 115..445 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /inference="alignment:Splign:1.39.8" variation 129 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="c" /db_xref="dbSNP:200484909" CDS 141..1535 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /EC_number="3.4.22.61" /note="isoform C precursor is encoded by transcript variant C; caspase 8, apoptosis-related cysteine protease; FADD-homologous ICE/CED-3-like protease; MACH-alpha-1/2/3 protein; MACH-beta-1/2/3/4 protein; FADD-like ICE; apoptotic protease Mch-5; apoptotic cysteine protease; ICE-like apoptotic protease 5; MORT1-associated ced-3 homolog" /codon_start=1 /product="caspase-8 isoform C precursor" /protein_id="NP_203520.1" /db_xref="GI:15718708" /db_xref="CCDS:CCDS2343.1" /db_xref="GeneID:841" /db_xref="HGNC:1509" /db_xref="HPRD:03459" /db_xref="MIM:601763" /translation="
MDFSRNLYDIGEQLDSEDLASLKFLSLDYIPQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLNTRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDILKRVCAQINKSLLKIINDYEEFSKGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIINNHNFAKAREKVPKLHSIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD
" misc_feature 147..392 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /note="Death effector domain, repeat 1, of Caspase-8; Region: DED_Caspase_8_repeat1; cd08333" /db_xref="CDD:176745" misc_feature order(186..191,201..203,210..215,219..224,330..332, 342..344) /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /note="putative DED1/DED2 interface [polypeptide binding]; other site" /db_xref="CDD:176745" misc_feature order(192..194,351..353,357..359) /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /note="charge triad; other site" /db_xref="CDD:176745" misc_feature 432..680 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /note="The Death Domain Superfamily of protein-protein interaction domains; Region: DD_superfamily; cl14633" /db_xref="CDD:209876" misc_feature 723..725 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /experiment="experimental evidence, no additional details recorded" /note="proteolytic cleavage site; modified site" /db_xref="HPRD:03459" misc_feature 741..743 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /experiment="experimental evidence, no additional details recorded" /note="proteolytic cleavage site; modified site" /db_xref="HPRD:03459" mat_peptide 744..1064 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /product="caspase-8 isoform C subunit p18" misc_feature 750..752 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 768..1526 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /note="Caspase, interleukin-1 beta converting enzyme (ICE) homologues; Cysteine-dependent aspartate-directed proteases that mediate programmed cell death (apoptosis). Caspases are synthesized as inactive zymogens and activated by proteolysis of the peptide...; Region: CASc; cd00032" /db_xref="CDD:28914" misc_feature order(873..875,1047..1049,1167..1169,1188..1190, 1323..1340,1350..1355) /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /note="substrate pocket [chemical binding]; other site" /db_xref="CDD:28914" misc_feature order(1044..1046,1173..1175) /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /note="active site" /db_xref="CDD:28914" misc_feature order(1191..1193,1278..1283,1302..1304,1311..1313, 1320..1322,1389..1391,1416..1418,1434..1436,1476..1478, 1491..1496,1500..1502,1509..1514) /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /note="dimer interface [polypeptide binding]; other site" /db_xref="CDD:28914" misc_feature order(1194..1196,1275..1277) /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /note="proteolytic cleavage site; other site" /db_xref="CDD:28914" misc_feature 1215..1217 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /experiment="experimental evidence, no additional details recorded" /note="proteolytic cleavage site; modified site" /db_xref="HPRD:03459" misc_feature 1245..1247 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /experiment="experimental evidence, no additional details recorded" /note="proteolytic cleavage site; modified site" /db_xref="HPRD:03459" mat_peptide 1248..1532 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /product="caspase-8 isoform C subunit p10" STS 141..386 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /standard_name="RH70951" /db_xref="UniSTS:19740" variation 224 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:368413113" variation 239 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="g" /replace="t" /db_xref="dbSNP:138862018" variation 299 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="g" /db_xref="dbSNP:200261147" variation 314 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:374717331" variation 397 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:61995876" variation 402 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:374010917" variation 442 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:376330981" exon 446..551 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /inference="alignment:Splign:1.39.8" variation 479 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:17860422" variation 510 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:373203074" variation 527 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:368684291" variation 539 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:150515363" exon 552..690 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /inference="alignment:Splign:1.39.8" variation 571 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:142688117" variation 572 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:149933993" variation 583 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:148697064" variation 592 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:367807709" variation 635 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:201525799" exon 691..755 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /inference="alignment:Splign:1.39.8" variation 735 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="g" /replace="t" /db_xref="dbSNP:146816437" variation 750 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:35976359" exon 756..897 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /inference="alignment:Splign:1.39.8" variation 774 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="g" /db_xref="dbSNP:143410219" variation 837 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:17860424" variation 862 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:112383550" variation 884 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:35142591" exon 898..1399 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /inference="alignment:Splign:1.39.8" variation 910 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:139337151" variation 938 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="c" /db_xref="dbSNP:199934929" variation 947 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:138030956" variation 948 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="g" /db_xref="dbSNP:1045485" variation 986 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:17860426" variation 987 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:146286958" STS 989..1368 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /standard_name="PMC230316P2" /db_xref="UniSTS:272180" variation 1007 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:139361998" variation 1014 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:148960588" variation 1055 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:1045487" variation 1067 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:368087314" variation 1076 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:372973743" variation 1143 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:202185417" variation 1181 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="g" /db_xref="dbSNP:377204617" variation 1232 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:369704935" variation 1264 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:373673288" variation 1276..1277 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="" /replace="c" /db_xref="dbSNP:34208389" variation 1277 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:190041873" variation 1279 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="t" /db_xref="dbSNP:150243843" exon 1400..2652 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /inference="alignment:Splign:1.39.8" variation 1587 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:34857899" variation 1595 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:13425113" STS 1598..1700 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /standard_name="D11S2921" /db_xref="UniSTS:152074" STS 1605..1694 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /standard_name="PMC156606P1" /db_xref="UniSTS:271408" variation 1606 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:41309822" variation 1618 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:17860428" variation 1633 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:36155452" variation 1634 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:13425383" variation 1642 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:184368293" variation 1650 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:370257689" variation 1657 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="g" /db_xref="dbSNP:3185378" variation 1681 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:201516518" variation 1701 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="g" /db_xref="dbSNP:35474602" variation 1710 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:2141331" STS 1817..2235 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /standard_name="GDB:631813" /db_xref="UniSTS:158430" variation 1851 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:35419671" variation 1946 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="g" /db_xref="dbSNP:17860432" variation 1964 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:17860433" variation 1999 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:1045494" variation 2013 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:1045495" variation 2126 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:187758494" variation 2198 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:193117251" variation 2210 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:368491883" variation 2241 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:11551927" variation 2290 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:145519245" STS 2293..2438 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /standard_name="RH78960" /db_xref="UniSTS:4072" variation 2309 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:1128421" variation 2324 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:1128423" variation 2326 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:1045501" variation 2347..2348 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="" /replace="aa" /db_xref="dbSNP:71769639" variation 2356 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="" /replace="t" /db_xref="dbSNP:34552705" variation 2380 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="t" /db_xref="dbSNP:13113" variation 2408 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:371966481" variation 2461..2462 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="" /replace="at" /db_xref="dbSNP:34461625" variation 2462..2463 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="" /replace="at" /db_xref="dbSNP:373026882" polyA_signal 2629..2634 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" polyA_site 2650 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" polyA_site 2652 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" ORIGIN
gtagagctggctggctgtgcccttccgtccttcattagacgtttgctcttgtcttagatgctcagatggtagtggataggcctgtgacgaaggtgctaccatcgtgagagtaagattatattctcctgccttttaaaaagatggacttcagcagaaatctttatgatattggggaacaactggacagtgaagatctggcctccctcaagttcctgagcctggactacattccgcaaaggaagcaagaacccatcaaggatgccttgatgttattccagagactccaggaaaagagaatgttggaggaaagcaatctgtccttcctgaaggagctgctcttccgaattaatagactggatttgctgattacctacctaaacactagaaaggaggagatggaaagggaacttcagacaccaggcagggctcaaatttctgcctacagggtcatgctctatcagatttcagaagaagtgagcagatcagaattgaggtcttttaagtttcttttgcaagaggaaatctccaaatgcaaactggatgatgacatgaacctgctggatattttcatagagatggagaagagggtcatcctgggagaaggaaagttggacatcctgaaaagagtctgtgcccaaatcaacaagagcctgctgaagataatcaacgactatgaagaattcagcaaaggggaggagttgtgtggggtaatgacaatctcggactctccaagagaacaggatagtgaatcacagactttggacaaagtttaccaaatgaaaagcaaacctcggggatactgtctgatcatcaacaatcacaattttgcaaaagcacgggagaaagtgcccaaacttcacagcattagggacaggaatggaacacacttggatgcaggggctttgaccacgacctttgaagagcttcattttgagatcaagccccacgatgactgcacagtagagcaaatctatgagattttgaaaatctaccaactcatggaccacagtaacatggactgcttcatctgctgtatcctctcccatggagacaagggcatcatctatggcactgatggacaggaggcccccatctatgagctgacatctcagttcactggtttgaagtgcccttcccttgctggaaaacccaaagtgttttttattcaggcttgtcagggggataactaccagaaaggtatacctgttgagactgattcagaggagcaaccctatttagaaatggatttatcatcacctcaaacgagatatatcccggatgaggctgactttctgctggggatggccactgtgaataactgtgtttcctaccgaaaccctgcagagggaacctggtacatccagtcactttgccagagcctgagagagcgatgtcctcgaggcgatgatattctcaccatcctgactgaagtgaactatgaagtaagcaacaaggatgacaagaaaaacatggggaaacagatgcctcagcctactttcacactaagaaaaaaacttgtcttcccttctgattgatggtgctattttgtttgttttgttttgttttgtttttttgagacagaatctcgctctgtcgcccaggctggagtgcagtggcgtgatctcggctcaccgcaagctccgcctcccgggttcaggccattctcctgcctcagcctcccgagtagctgggactacaggggcccgccaccacacctggctaattttttaaaaatatttttagtagagacagggtttcactgtgttagccagggtggtcttgatctcctgacctcgtgatccacccacctcggcctcccaaagtgctgggattacaggcgtgagccaccgcgcctggccgatggtactatttagatataacactatgtttatttactaattttctagattttctactttattaattgttttgcacttttttataagagctaaagttaaataggatattaacaacaataacactgtctcctttctcttatgcttaaggctttgggaatgtttttagctggtggcaataaataccagacacgtacaaaatccagctatgaatatagagggcttatgattcagattgttatctatcaactataagcccactgttaatattctattaactttaattctctttcaaagctaaattccacactaccacattaaaaaaattagaaagtagccacgtatggtggctcatgtctataatcccagcactttgggaggttgaggtgggaggattgcttgaacccaagaggtcaaggctgcagtgagccatgttcacaccgctgcactcaagcttgggtgacagaacaagaccccgtctcaaaaaaaattttttttttaataaaacaaaatttgtttgaaatcttttaaaaattcaaatgatttttacaagttttaaataagctctccccaaacttgctttatgccttcttattgcttttatgatatatatatgcttggctaactatatttgctttttgctaacaatgctctggggtctttttatgcatttgcatttgctctttcatctctgcttggattattttaaatcattaggaattaagttatctttaaaatttaagtatcttttttcaaaaacattttttaatagaataaaatataatttgatcttattaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:841 -> Molecular function: GO:0002020 [protease binding] evidence: IPI GeneID:841 -> Molecular function: GO:0004197 [cysteine-type endopeptidase activity] evidence: IDA GeneID:841 -> Molecular function: GO:0004197 [cysteine-type endopeptidase activity] evidence: TAS GeneID:841 -> Molecular function: GO:0005164 [tumor necrosis factor receptor binding] evidence: IEA GeneID:841 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:841 -> Molecular function: GO:0008234 [cysteine-type peptidase activity] evidence: TAS GeneID:841 -> Molecular function: GO:0042802 [identical protein binding] evidence: IPI GeneID:841 -> Biological process: GO:0001525 [angiogenesis] evidence: IEA GeneID:841 -> Biological process: GO:0001841 [neural tube formation] evidence: IEA GeneID:841 -> Biological process: GO:0002224 [toll-like receptor signaling pathway] evidence: TAS GeneID:841 -> Biological process: GO:0002756 [MyD88-independent toll-like receptor signaling pathway] evidence: TAS GeneID:841 -> Biological process: GO:0006508 [proteolysis] evidence: IDA GeneID:841 -> Biological process: GO:0006915 [apoptotic process] evidence: IGI GeneID:841 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:841 -> Biological process: GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] evidence: TAS GeneID:841 -> Biological process: GO:0006921 [cellular component disassembly involved in execution phase of apoptosis] evidence: TAS GeneID:841 -> Biological process: GO:0007507 [heart development] evidence: IEA GeneID:841 -> Biological process: GO:0009409 [response to cold] evidence: IEA GeneID:841 -> Biological process: GO:0019048 [modulation by virus of host morphology or physiology] evidence: IEA GeneID:841 -> Biological process: GO:0030225 [macrophage differentiation] evidence: IEA GeneID:841 -> Biological process: GO:0032025 [response to cobalt ion] evidence: IEA GeneID:841 -> Biological process: GO:0032355 [response to estradiol stimulus] evidence: IEA GeneID:841 -> Biological process: GO:0032496 [response to lipopolysaccharide] evidence: IEA GeneID:841 -> Biological process: GO:0034138 [toll-like receptor 3 signaling pathway] evidence: TAS GeneID:841 -> Biological process: GO:0034142 [toll-like receptor 4 signaling pathway] evidence: TAS GeneID:841 -> Biological process: GO:0034612 [response to tumor necrosis factor] evidence: IMP GeneID:841 -> Biological process: GO:0035666 [TRIF-dependent toll-like receptor signaling pathway] evidence: TAS GeneID:841 -> Biological process: GO:0035872 [nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway] evidence: TAS GeneID:841 -> Biological process: GO:0043123 [positive regulation of I-kappaB kinase/NF-kappaB cascade] evidence: IEP GeneID:841 -> Biological process: GO:0043123 [positive regulation of I-kappaB kinase/NF-kappaB cascade] evidence: IMP GeneID:841 -> Biological process: GO:0043124 [negative regulation of I-kappaB kinase/NF-kappaB cascade] evidence: IMP GeneID:841 -> Biological process: GO:0045087 [innate immune response] evidence: TAS GeneID:841 -> Biological process: GO:0045471 [response to ethanol] evidence: IEA GeneID:841 -> Biological process: GO:0045651 [positive regulation of macrophage differentiation] evidence: IMP GeneID:841 -> Biological process: GO:0045862 [positive regulation of proteolysis] evidence: IDA GeneID:841 -> Biological process: GO:0046677 [response to antibiotic] evidence: IEA GeneID:841 -> Biological process: GO:0051291 [protein heterooligomerization] evidence: IEA GeneID:841 -> Biological process: GO:0051603 [proteolysis involved in cellular protein catabolic process] evidence: IMP GeneID:841 -> Biological process: GO:0070423 [nucleotide-binding oligomerization domain containing signaling pathway] evidence: TAS GeneID:841 -> Biological process: GO:0071260 [cellular response to mechanical stimulus] evidence: IEP GeneID:841 -> Biological process: GO:0097190 [apoptotic signaling pathway] evidence: IMP GeneID:841 -> Biological process: GO:0097190 [apoptotic signaling pathway] evidence: TAS GeneID:841 -> Biological process: GO:0097191 [extrinsic apoptotic signaling pathway] evidence: IDA GeneID:841 -> Biological process: GO:0097193 [intrinsic apoptotic signaling pathway] evidence: TAS GeneID:841 -> Biological process: GO:0097202 [activation of cysteine-type endopeptidase activity] evidence: IDA GeneID:841 -> Biological process: GO:1900740 [positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway] evidence: TAS GeneID:841 -> Biological process: GO:2001239 [regulation of extrinsic apoptotic signaling pathway in absence of ligand] evidence: TAS GeneID:841 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:841 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA GeneID:841 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA GeneID:841 -> Cellular component: GO:0005739 [mitochondrion] evidence: IDA GeneID:841 -> Cellular component: GO:0005741 [mitochondrial outer membrane] evidence: TAS GeneID:841 -> Cellular component: GO:0005813 [centrosome] evidence: IDA GeneID:841 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:841 -> Cellular component: GO:0005856 [cytoskeleton] evidence: TAS GeneID:841 -> Cellular component: GO:0030690 [Noc1p-Noc2p complex] evidence: IEA GeneID:841 -> Cellular component: GO:0031264 [death-inducing signaling complex] evidence: IDA GeneID:841 -> Cellular component: GO:0031265 [CD95 death-inducing signaling complex] evidence: IEA GeneID:841 -> Cellular component: GO:0043005 [neuron projection] evidence: IEA GeneID:841 -> Cellular component: GO:0044297 [cell body] evidence: IEA GeneID:841 -> Cellular component: GO:0045121 [membrane raft] evidence: IEA ANNOTATIONS from NCBI Entrez Gene (20130726): NP_203520 -> EC 3.4.22.61
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