2024-04-24 13:09:59, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_033355 2769 bp mRNA linear PRI 09-JUN-2013 DEFINITION Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA. ACCESSION NM_033355 VERSION NM_033355.3 GI:122056469 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 2769) 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 2769) 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 2769) 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 2769) 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 2769) 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 2769) 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 2769) 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 2769) 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 2769) 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 2769) 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 DA420056.1, AF422928.1, AC007256.5 and AI351872.1. This sequence is a reference standard in the RefSeqGene project. On Jan 12, 2007 this sequence version replaced gi:73623019. 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 (B) includes different segments in its 5' UTR and lacks a 5' coding region segment, compared to variant G. This results in translation at a downstream start codon, and the encoded protein (isoform B) has a shorter N-terminus when it is compared to isoform G. CCDS Note: This CCDS representation is based on AF422928.1 and U58143.1, and on data in PMID:11917123. This 479 aa isoform is also supported by homologous proteins, including pig NP_001026949.1, cow NP_001039435.1, mouse NP_033942.1, rat NP_071613.1 and chicken NP_989923.1. In addition, macaque AB172864.1 supports the full-length splice pattern. 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## CDS exon combination :: U58143.1, X98172.1 [ECO:0000331] ##Evidence-Data-END## COMPLETENESS: full length. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-20 DA420056.1 1-20 21-1168 AF422928.1 9-1156 1169-1513 AC007256.5 132153-132497 c 1514-2494 AC007256.5 130031-131011 c 2495-2769 AI351872.1 1-275 c FEATURES Location/Qualifiers source 1..2769 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2q33-q34" gene 1..2769 /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..112 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /inference="alignment:Splign:1.39.8" exon 113..209 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /inference="alignment:Splign:1.39.8" misc_feature 177..179 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /note="upstream in-frame stop codon" CDS 210..1649 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /EC_number="3.4.22.61" /note="isoform B precursor is encoded by transcript variant B; 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 B precursor" /protein_id="NP_203519.1" /db_xref="GI:15718706" /db_xref="CCDS:CCDS2342.1" /db_xref="GeneID:841" /db_xref="HGNC:1509" /db_xref="HPRD:03459" /db_xref="MIM:601763" /translation="
MDFSRNLYDIGEQLDSEDLASLKFLSLDYIPQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLNTRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDILKRVCAQINKSLLKIINDYEEFSKERSSSLEGSPDEFSNGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIINNHNFAKAREKVPKLHSIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD
" misc_feature 216..461 /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(255..260,270..272,279..284,288..293,399..401, 411..413) /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(261..263,420..422,426..428) /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /note="charge triad; other site" /db_xref="CDD:176745" misc_feature 501..749 /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 837..839 /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 855..857 /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 858..1331 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /product="caspase-8 isoform B subunit p18" misc_feature 864..866 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" misc_feature 882..1640 /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(987..989,1161..1163,1281..1283,1302..1304, 1437..1454,1464..1469) /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(1158..1160,1287..1289) /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /note="active site" /db_xref="CDD:28914" misc_feature 1209..1211 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /experiment="experimental evidence, no additional details recorded" /note="Phosphotyrosine; propagated from UniProtKB/Swiss-Prot (Q14790.1); phosphorylation site" misc_feature order(1305..1307,1392..1397,1416..1418,1425..1427, 1434..1436,1503..1505,1530..1532,1548..1550,1590..1592, 1605..1610,1614..1616,1623..1628) /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(1308..1310,1389..1391) /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /note="proteolytic cleavage site; other site" /db_xref="CDD:28914" misc_feature 1329..1331 /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 1359..1361 /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 1362..1646 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /product="caspase-8 isoform B subunit p10" misc_feature 1368..1370 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine, by CDK1; propagated from UniProtKB/Swiss-Prot (Q14790.1); phosphorylation site" exon 210..514 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /inference="alignment:Splign:1.39.8" STS 210..455 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /standard_name="RH70951" /db_xref="UniSTS:19740" variation 293 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:368413113" variation 308 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="g" /replace="t" /db_xref="dbSNP:138862018" variation 368 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="g" /db_xref="dbSNP:200261147" variation 383 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:374717331" variation 466 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:61995876" variation 471 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:374010917" variation 511 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:376330981" exon 515..620 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /inference="alignment:Splign:1.39.8" variation 548 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:17860422" variation 579 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:373203074" variation 596 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:368684291" variation 608 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:150515363" exon 621..759 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /inference="alignment:Splign:1.39.8" variation 640 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:142688117" variation 641 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:149933993" variation 652 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:148697064" variation 661 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:367807709" variation 704 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:201525799" exon 760..804 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /inference="alignment:Splign:1.39.8" variation 762 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="c" /db_xref="dbSNP:140527175" variation 764 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="c" /db_xref="dbSNP:199501451" variation 765 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="c" /db_xref="dbSNP:141260012" variation 804 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:369934399" exon 805..869 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /inference="alignment:Splign:1.39.8" variation 849 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="g" /replace="t" /db_xref="dbSNP:146816437" variation 864 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:35976359" exon 870..1011 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /inference="alignment:Splign:1.39.8" variation 888 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="g" /db_xref="dbSNP:143410219" variation 951 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:17860424" variation 976 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:112383550" variation 998 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:35142591" exon 1012..1513 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /inference="alignment:Splign:1.39.8" variation 1024 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:139337151" variation 1052 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="c" /db_xref="dbSNP:199934929" variation 1061 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:138030956" variation 1062 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="g" /db_xref="dbSNP:1045485" variation 1100 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:17860426" variation 1101 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:146286958" STS 1103..1482 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /standard_name="PMC230316P2" /db_xref="UniSTS:272180" variation 1121 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:139361998" variation 1128 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:148960588" variation 1169 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:1045487" variation 1181 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:368087314" variation 1190 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:372973743" variation 1257 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:202185417" variation 1295 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="g" /db_xref="dbSNP:377204617" variation 1346 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:369704935" variation 1378 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:373673288" variation 1390..1391 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="" /replace="c" /db_xref="dbSNP:34208389" variation 1391 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:190041873" variation 1393 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="t" /db_xref="dbSNP:150243843" exon 1514..2766 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /inference="alignment:Splign:1.39.8" variation 1701 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:34857899" variation 1709 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:13425113" STS 1712..1814 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /standard_name="D11S2921" /db_xref="UniSTS:152074" STS 1719..1808 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /standard_name="PMC156606P1" /db_xref="UniSTS:271408" variation 1720 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:41309822" variation 1732 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:17860428" variation 1747 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:36155452" variation 1748 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:13425383" variation 1756 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:184368293" variation 1764 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:370257689" variation 1771 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="g" /db_xref="dbSNP:3185378" variation 1795 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:201516518" variation 1815 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="g" /db_xref="dbSNP:35474602" variation 1824 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:2141331" STS 1931..2349 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /standard_name="GDB:631813" /db_xref="UniSTS:158430" variation 1965 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:35419671" variation 2060 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="g" /db_xref="dbSNP:17860432" variation 2078 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:17860433" variation 2113 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:1045494" variation 2127 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:1045495" variation 2240 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:187758494" variation 2312 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:193117251" variation 2324 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:368491883" variation 2355 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="c" /replace="t" /db_xref="dbSNP:11551927" variation 2404 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:145519245" STS 2407..2552 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /standard_name="RH78960" /db_xref="UniSTS:4072" variation 2423 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:1128421" variation 2438 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:1128423" variation 2440 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:1045501" variation 2461..2462 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="" /replace="aa" /db_xref="dbSNP:71769639" variation 2470 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="" /replace="t" /db_xref="dbSNP:34552705" variation 2494 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="t" /db_xref="dbSNP:13113" variation 2522 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="a" /replace="g" /db_xref="dbSNP:371966481" variation 2575..2576 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="" /replace="at" /db_xref="dbSNP:34461625" variation 2576..2577 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" /replace="" /replace="at" /db_xref="dbSNP:373026882" polyA_signal 2743..2748 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" polyA_site 2764 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" polyA_site 2766 /gene="CASP8" /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5" ORIGIN
gtgctctgagtttttggtttctgtttcaccttgtgtctgagctggtctgaaggctggttgttcagactgagcttcctgcctgcctgtaccccgccaacagcttcagaagaaggagcagcccctgggtgcgtccactttctgggcacgtgaggttgggccttggccgcctgagcccttgagttggtcacttgaaccttgggaatattgagatggacttcagcagaaatctttatgatattggggaacaactggacagtgaagatctggcctccctcaagttcctgagcctggactacattccgcaaaggaagcaagaacccatcaaggatgccttgatgttattccagagactccaggaaaagagaatgttggaggaaagcaatctgtccttcctgaaggagctgctcttccgaattaatagactggatttgctgattacctacctaaacactagaaaggaggagatggaaagggaacttcagacaccaggcagggctcaaatttctgcctacagggtcatgctctatcagatttcagaagaagtgagcagatcagaattgaggtcttttaagtttcttttgcaagaggaaatctccaaatgcaaactggatgatgacatgaacctgctggatattttcatagagatggagaagagggtcatcctgggagaaggaaagttggacatcctgaaaagagtctgtgcccaaatcaacaagagcctgctgaagataatcaacgactatgaagaattcagcaaagagagaagcagcagccttgaaggaagtcctgatgaattttcaaatggggaggagttgtgtggggtaatgacaatctcggactctccaagagaacaggatagtgaatcacagactttggacaaagtttaccaaatgaaaagcaaacctcggggatactgtctgatcatcaacaatcacaattttgcaaaagcacgggagaaagtgcccaaacttcacagcattagggacaggaatggaacacacttggatgcaggggctttgaccacgacctttgaagagcttcattttgagatcaagccccacgatgactgcacagtagagcaaatctatgagattttgaaaatctaccaactcatggaccacagtaacatggactgcttcatctgctgtatcctctcccatggagacaagggcatcatctatggcactgatggacaggaggcccccatctatgagctgacatctcagttcactggtttgaagtgcccttcccttgctggaaaacccaaagtgttttttattcaggcttgtcagggggataactaccagaaaggtatacctgttgagactgattcagaggagcaaccctatttagaaatggatttatcatcacctcaaacgagatatatcccggatgaggctgactttctgctggggatggccactgtgaataactgtgtttcctaccgaaaccctgcagagggaacctggtacatccagtcactttgccagagcctgagagagcgatgtcctcgaggcgatgatattctcaccatcctgactgaagtgaactatgaagtaagcaacaaggatgacaagaaaaacatggggaaacagatgcctcagcctactttcacactaagaaaaaaacttgtcttcccttctgattgatggtgctattttgtttgttttgttttgttttgtttttttgagacagaatctcgctctgtcgcccaggctggagtgcagtggcgtgatctcggctcaccgcaagctccgcctcccgggttcaggccattctcctgcctcagcctcccgagtagctgggactacaggggcccgccaccacacctggctaattttttaaaaatatttttagtagagacagggtttcactgtgttagccagggtggtcttgatctcctgacctcgtgatccacccacctcggcctcccaaagtgctgggattacaggcgtgagccaccgcgcctggccgatggtactatttagatataacactatgtttatttactaattttctagattttctactttattaattgttttgcacttttttataagagctaaagttaaataggatattaacaacaataacactgtctcctttctcttatgcttaaggctttgggaatgtttttagctggtggcaataaataccagacacgtacaaaatccagctatgaatatagagggcttatgattcagattgttatctatcaactataagcccactgttaatattctattaactttaattctctttcaaagctaaattccacactaccacattaaaaaaattagaaagtagccacgtatggtggctcatgtctataatcccagcactttgggaggttgaggtgggaggattgcttgaacccaagaggtcaaggctgcagtgagccatgttcacaccgctgcactcaagcttgggtgacagaacaagaccccgtctcaaaaaaaattttttttttaataaaacaaaatttgtttgaaatcttttaaaaattcaaatgatttttacaagttttaaataagctctccccaaacttgctttatgccttcttattgcttttatgatatatatatgcttggctaactatatttgctttttgctaacaatgctctggggtctttttatgcatttgcatttgctctttcatctctgcttggattattttaaatcattaggaattaagttatctttaaaatttaagtatcttttttcaaaaacattttttaatagaataaaatataatttgatcttattaaa
//
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_203519 -> EC 3.4.22.61
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