GGRNA Home | Help | Advanced search

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:

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

by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.