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2024-04-21 01:20:53, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001080124 2750 bp mRNA linear PRI 09-JUN-2013
DEFINITION Homo sapiens caspase 8, apoptosis-related cysteine peptidase
(CASP8), transcript variant F, mRNA.
ACCESSION NM_001080124
VERSION NM_001080124.1 GI:122056473
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 2750)
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 2750)
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 2750)
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 2750)
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 2750)
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 2750)
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 2750)
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 2750)
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 2750)
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 2750)
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, AF422927.1,
AC007256.5 and AI351872.1.
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 (F) includes different segments 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##
CDS exon combination :: X98173.1, AF009620.1 [ECO:0000331]
##Evidence-Data-END##
COMPLETENESS: full length.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-20 DA420056.1 1-20
21-1251 AF422927.1 9-1239
1252-1494 AC007256.5 132153-132395 c
1495-2475 AC007256.5 130031-131011 c
2476-2750 AI351872.1 1-275 c
FEATURES Location/Qualifiers
source 1..2750
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2q33-q34"
gene 1..2750
/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="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 206..208
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/note="upstream in-frame stop codon"
exon 210..540
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 224
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="c"
/db_xref="dbSNP:200484909"
CDS 236..1630
/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 F; 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_001073593.1"
/db_xref="GI:122056474"
/db_xref="CCDS:CCDS2343.1"
/db_xref="GeneID:841"
/db_xref="HGNC:1509"
/db_xref="MIM:601763"
/translation="
MDFSRNLYDIGEQLDSEDLASLKFLSLDYIPQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLNTRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDILKRVCAQINKSLLKIINDYEEFSKGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIINNHNFAKAREKVPKLHSIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD
"
misc_feature 242..487
/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(281..286,296..298,305..310,314..319,425..427,
437..439)
/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(287..289,446..448,452..454)
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/note="charge triad; other site"
/db_xref="CDD:176745"
misc_feature 527..775
/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"
mat_peptide 839..1159
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/product="caspase-8 isoform C subunit p18"
misc_feature 845..847
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 863..1621
/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(968..970,1142..1144,1262..1264,1283..1285,
1418..1435,1445..1450)
/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(1139..1141,1268..1270)
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/note="active site"
/db_xref="CDD:28914"
misc_feature order(1286..1288,1373..1378,1397..1399,1406..1408,
1415..1417,1484..1486,1511..1513,1529..1531,1571..1573,
1586..1591,1595..1597,1604..1609)
/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(1289..1291,1370..1372)
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/note="proteolytic cleavage site; other site"
/db_xref="CDD:28914"
mat_peptide 1343..1627
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/product="caspase-8 isoform C subunit p10"
STS 236..481
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/standard_name="RH70951"
/db_xref="UniSTS:19740"
variation 319
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:368413113"
variation 334
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="g"
/replace="t"
/db_xref="dbSNP:138862018"
variation 394
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:200261147"
variation 409
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:374717331"
variation 492
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:61995876"
variation 497
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:374010917"
variation 537
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:376330981"
exon 541..646
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 574
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:17860422"
variation 605
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:373203074"
variation 622
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:368684291"
variation 634
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:150515363"
exon 647..785
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 666
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:142688117"
variation 667
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:149933993"
variation 678
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:148697064"
variation 687
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:367807709"
variation 730
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:201525799"
exon 786..850
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 830
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="g"
/replace="t"
/db_xref="dbSNP:146816437"
variation 845
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:35976359"
exon 851..992
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 869
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:143410219"
variation 932
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:17860424"
variation 957
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:112383550"
variation 979
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:35142591"
exon 993..1494
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 1005
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:139337151"
variation 1033
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="c"
/db_xref="dbSNP:199934929"
variation 1042
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:138030956"
variation 1043
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:1045485"
variation 1081
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:17860426"
variation 1082
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:146286958"
STS 1084..1463
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/standard_name="PMC230316P2"
/db_xref="UniSTS:272180"
variation 1102
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:139361998"
variation 1109
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:148960588"
variation 1150
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:1045487"
variation 1162
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:368087314"
variation 1171
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:372973743"
variation 1238
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:202185417"
variation 1276
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:377204617"
variation 1327
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:369704935"
variation 1359
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:373673288"
variation 1371..1372
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace=""
/replace="c"
/db_xref="dbSNP:34208389"
variation 1372
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:190041873"
variation 1374
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="t"
/db_xref="dbSNP:150243843"
exon 1495..2747
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 1682
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:34857899"
variation 1690
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:13425113"
STS 1693..1795
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/standard_name="D11S2921"
/db_xref="UniSTS:152074"
STS 1700..1789
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/standard_name="PMC156606P1"
/db_xref="UniSTS:271408"
variation 1701
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:41309822"
variation 1713
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:17860428"
variation 1728
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:36155452"
variation 1729
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:13425383"
variation 1737
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:184368293"
variation 1745
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:370257689"
variation 1752
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:3185378"
variation 1776
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:201516518"
variation 1796
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:35474602"
variation 1805
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:2141331"
STS 1912..2330
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/standard_name="GDB:631813"
/db_xref="UniSTS:158430"
variation 1946
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:35419671"
variation 2041
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:17860432"
variation 2059
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:17860433"
variation 2094
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:1045494"
variation 2108
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:1045495"
variation 2221
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:187758494"
variation 2293
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:193117251"
variation 2305
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:368491883"
variation 2336
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:11551927"
variation 2385
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:145519245"
STS 2388..2533
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/standard_name="RH78960"
/db_xref="UniSTS:4072"
variation 2404
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:1128421"
variation 2419
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:1128423"
variation 2421
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:1045501"
variation 2442..2443
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace=""
/replace="aa"
/db_xref="dbSNP:71769639"
variation 2451
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace=""
/replace="t"
/db_xref="dbSNP:34552705"
variation 2475
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="t"
/db_xref="dbSNP:13113"
variation 2503
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:371966481"
variation 2556..2557
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace=""
/replace="at"
/db_xref="dbSNP:34461625"
variation 2557..2558
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace=""
/replace="at"
/db_xref="dbSNP:373026882"
polyA_signal 2724..2729
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
polyA_site 2745
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
polyA_site 2747
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
ORIGIN
gtgctctgagtttttggtttctgtttcaccttgtgtctgagctggtctgaaggctggttgttcagactgagcttcctgcctgcctgtaccccgccaacagcttcagaagaaggagcagcccctgggtgcgtccactttctgggcacgtgaggttgggccttggccgcctgagcccttgagttggtcacttgaaccttgggaatattgagattatattctcctgccttttaaaaagatggacttcagcagaaatctttatgatattggggaacaactggacagtgaagatctggcctccctcaagttcctgagcctggactacattccgcaaaggaagcaagaacccatcaaggatgccttgatgttattccagagactccaggaaaagagaatgttggaggaaagcaatctgtccttcctgaaggagctgctcttccgaattaatagactggatttgctgattacctacctaaacactagaaaggaggagatggaaagggaacttcagacaccaggcagggctcaaatttctgcctacagggtcatgctctatcagatttcagaagaagtgagcagatcagaattgaggtcttttaagtttcttttgcaagaggaaatctccaaatgcaaactggatgatgacatgaacctgctggatattttcatagagatggagaagagggtcatcctgggagaaggaaagttggacatcctgaaaagagtctgtgcccaaatcaacaagagcctgctgaagataatcaacgactatgaagaattcagcaaaggggaggagttgtgtggggtaatgacaatctcggactctccaagagaacaggatagtgaatcacagactttggacaaagtttaccaaatgaaaagcaaacctcggggatactgtctgatcatcaacaatcacaattttgcaaaagcacgggagaaagtgcccaaacttcacagcattagggacaggaatggaacacacttggatgcaggggctttgaccacgacctttgaagagcttcattttgagatcaagccccacgatgactgcacagtagagcaaatctatgagattttgaaaatctaccaactcatggaccacagtaacatggactgcttcatctgctgtatcctctcccatggagacaagggcatcatctatggcactgatggacaggaggcccccatctatgagctgacatctcagttcactggtttgaagtgcccttcccttgctggaaaacccaaagtgttttttattcaggcttgtcagggggataactaccagaaaggtatacctgttgagactgattcagaggagcaaccctatttagaaatggatttatcatcacctcaaacgagatatatcccggatgaggctgactttctgctggggatggccactgtgaataactgtgtttcctaccgaaaccctgcagagggaacctggtacatccagtcactttgccagagcctgagagagcgatgtcctcgaggcgatgatattctcaccatcctgactgaagtgaactatgaagtaagcaacaaggatgacaagaaaaacatggggaaacagatgcctcagcctactttcacactaagaaaaaaacttgtcttcccttctgattgatggtgctattttgtttgttttgttttgttttgtttttttgagacagaatctcgctctgtcgcccaggctggagtgcagtggcgtgatctcggctcaccgcaagctccgcctcccgggttcaggccattctcctgcctcagcctcccgagtagctgggactacaggggcccgccaccacacctggctaattttttaaaaatatttttagtagagacagggtttcactgtgttagccagggtggtcttgatctcctgacctcgtgatccacccacctcggcctcccaaagtgctgggattacaggcgtgagccaccgcgcctggccgatggtactatttagatataacactatgtttatttactaattttctagattttctactttattaattgttttgcacttttttataagagctaaagttaaataggatattaacaacaataacactgtctcctttctcttatgcttaaggctttgggaatgtttttagctggtggcaataaataccagacacgtacaaaatccagctatgaatatagagggcttatgattcagattgttatctatcaactataagcccactgttaatattctattaactttaattctctttcaaagctaaattccacactaccacattaaaaaaattagaaagtagccacgtatggtggctcatgtctataatcccagcactttgggaggttgaggtgggaggattgcttgaacccaagaggtcaaggctgcagtgagccatgttcacaccgctgcactcaagcttgggtgacagaacaagaccccgtctcaaaaaaaattttttttttaataaaacaaaatttgtttgaaatcttttaaaaattcaaatgatttttacaagttttaaataagctctccccaaacttgctttatgccttcttattgcttttatgatatatatatgcttggctaactatatttgctttttgctaacaatgctctggggtctttttatgcatttgcatttgctctttcatctctgcttggattattttaaatcattaggaattaagttatctttaaaatttaagtatcttttttcaaaaacattttttaatagaataaaatataatttgatcttattaaa
//
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_001073593 -> EC 3.4.22.61
by
@meso_cacase at
DBCLS
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