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2024-04-27 00:02:08, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001080125 2938 bp mRNA linear PRI 09-JUN-2013
DEFINITION Homo sapiens caspase 8, apoptosis-related cysteine peptidase
(CASP8), transcript variant G, mRNA.
ACCESSION NM_001080125
VERSION NM_001080125.1 GI:122056475
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 2938)
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 2938)
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 2938)
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 2938)
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 2938)
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 2938)
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 2938)
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 2938)
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 2938)
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 2938)
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 AC007256.5, X98172.1,
AF422927.1 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 (G), also known as procaspase-8L
or 8L, encodes the longest protein (isoform G).
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 :: X98172.1 [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
1-352 AC007256.5 159088-159439 c
353-1335 X98172.1 266-1248
1336-1340 AF422927.1 1136-1140
1341-1937 X98172.1 1254-1850
1938-2663 AC007256.5 130031-130756 c
2664-2938 AI351872.1 1-275 c
FEATURES Location/Qualifiers
source 1..2938
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2q33-q34"
gene 1..2938
/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..352
/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="a"
/replace="c"
/db_xref="dbSNP:140718249"
variation 21
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:150098853"
misc_feature 31..33
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/note="upstream in-frame stop codon"
variation 173
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:375965679"
CDS 202..1818
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/EC_number="3.4.22.61"
/note="isoform G precursor is encoded by transcript
variant G; 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 G precursor"
/protein_id="NP_001073594.1"
/db_xref="GI:122056476"
/db_xref="CCDS:CCDS42798.1"
/db_xref="GeneID:841"
/db_xref="HGNC:1509"
/db_xref="MIM:601763"
/translation="
MEGGRRARVVIESKRNFFLGAFPTPFPAEHVELGRLGDSETAMVPGKGGADYILLPFKKMDFSRNLYDIGEQLDSEDLASLKFLSLDYIPQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLNTRKEEMERELQTPGRAQISAYRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDILKRVCAQINKSLLKIINDYEEFSKERSSSLEGSPDEFSNGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIINNHNFAKAREKVPKLHSIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD
"
misc_feature 385..630
/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(424..429,439..441,448..453,457..462,568..570,
580..582)
/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(430..432,589..591,595..597)
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/note="charge triad; other site"
/db_xref="CDD:176745"
misc_feature 670..918
/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 1027..1347
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/product="caspase-8 isoform G subunit p18"
misc_feature 1033..1035
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1051..1809
/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(1156..1158,1330..1332,1450..1452,1471..1473,
1606..1623,1633..1638)
/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(1327..1329,1456..1458)
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/note="active site"
/db_xref="CDD:28914"
misc_feature order(1474..1476,1561..1566,1585..1587,1594..1596,
1603..1605,1672..1674,1699..1701,1717..1719,1759..1761,
1774..1779,1783..1785,1792..1797)
/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(1477..1479,1558..1560)
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/note="proteolytic cleavage site; other site"
/db_xref="CDD:28914"
mat_peptide 1531..1815
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/product="caspase-8 isoform G subunit p10"
variation 203
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:3769824"
variation 206
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="t"
/db_xref="dbSNP:200010059"
variation 213
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:372642070"
variation 235
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="g"
/replace="t"
/db_xref="dbSNP:377242086"
variation 242
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:3769823"
variation 272
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="c"
/db_xref="dbSNP:374248653"
variation 274
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:201548238"
variation 275
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:34210251"
variation 291
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:372594554"
variation 313
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:376887804"
variation 318
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:370221663"
variation 350
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:373349998"
exon 353..683
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 367
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="c"
/db_xref="dbSNP:200484909"
STS 379..624
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/standard_name="RH70951"
/db_xref="UniSTS:19740"
variation 462
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:368413113"
variation 477
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="g"
/replace="t"
/db_xref="dbSNP:138862018"
variation 537
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:200261147"
variation 552
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:374717331"
variation 635
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:61995876"
variation 640
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:374010917"
variation 680
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:376330981"
exon 684..789
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 717
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:17860422"
variation 748
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:373203074"
variation 765
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:368684291"
variation 777
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:150515363"
exon 790..928
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 809
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:142688117"
variation 810
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:149933993"
variation 821
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:148697064"
variation 830
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:367807709"
variation 873
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:201525799"
exon 929..973
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 931
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="c"
/db_xref="dbSNP:140527175"
variation 933
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="c"
/db_xref="dbSNP:199501451"
variation 934
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="c"
/db_xref="dbSNP:141260012"
variation 973
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:369934399"
exon 974..1038
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 1018
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="g"
/replace="t"
/db_xref="dbSNP:146816437"
variation 1033
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:35976359"
exon 1039..1180
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 1057
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:143410219"
variation 1120
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:17860424"
variation 1145
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:112383550"
variation 1167
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:35142591"
exon 1181..1682
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 1193
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:139337151"
variation 1221
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="c"
/db_xref="dbSNP:199934929"
variation 1230
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:138030956"
variation 1231
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:1045485"
variation 1269
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:17860426"
variation 1270
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:146286958"
STS 1272..1651
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/standard_name="PMC230316P2"
/db_xref="UniSTS:272180"
variation 1290
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:139361998"
variation 1297
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:148960588"
variation 1338
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:1045487"
variation 1350
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:368087314"
variation 1359
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:372973743"
variation 1426
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:202185417"
variation 1464
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:377204617"
variation 1515
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:369704935"
variation 1547
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:373673288"
variation 1559..1560
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace=""
/replace="c"
/db_xref="dbSNP:34208389"
variation 1560
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:190041873"
variation 1562
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="t"
/db_xref="dbSNP:150243843"
exon 1683..2935
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 1870
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:34857899"
variation 1878
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:13425113"
STS 1881..1983
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/standard_name="D11S2921"
/db_xref="UniSTS:152074"
STS 1888..1977
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/standard_name="PMC156606P1"
/db_xref="UniSTS:271408"
variation 1889
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:41309822"
variation 1901
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:17860428"
variation 1916
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:36155452"
variation 1917
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:13425383"
variation 1925
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:184368293"
variation 1933
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:370257689"
variation 1940
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:3185378"
variation 1964
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:201516518"
variation 1984
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:35474602"
variation 1993
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:2141331"
STS 2100..2518
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/standard_name="GDB:631813"
/db_xref="UniSTS:158430"
variation 2134
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:35419671"
variation 2229
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:17860432"
variation 2247
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:17860433"
variation 2282
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:1045494"
variation 2296
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:1045495"
variation 2409
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:187758494"
variation 2481
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:193117251"
variation 2493
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:368491883"
variation 2524
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:11551927"
variation 2573
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:145519245"
STS 2576..2721
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/standard_name="RH78960"
/db_xref="UniSTS:4072"
variation 2592
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:1128421"
variation 2607
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:1128423"
variation 2609
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:1045501"
variation 2630..2631
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace=""
/replace="aa"
/db_xref="dbSNP:71769639"
variation 2639
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace=""
/replace="t"
/db_xref="dbSNP:34552705"
variation 2663
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="t"
/db_xref="dbSNP:13113"
variation 2691
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:371966481"
variation 2744..2745
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace=""
/replace="at"
/db_xref="dbSNP:34461625"
variation 2745..2746
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace=""
/replace="at"
/db_xref="dbSNP:373026882"
polyA_signal 2912..2917
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
polyA_site 2933
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
polyA_site 2935
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
ORIGIN
gagtgagtcatctctgttctgctttaggagtaaagtttaccctgcagttccttctgtggtgaagttttctctttctctcggagaccagattctgcctttctgctggagggaagtgttttcacaggttctcctccttttatcttttgtgttttttttcaagccctgctgaatttgctagtcaactcaacaggaagtgaggccatggagggaggcagaagagccagggtggttattgaaagtaaaagaaacttcttcctgggagcctttcccacccccttccctgctgagcacgtggagttaggcaggttaggggactcggagactgcgatggtgccaggaaagggtggagcggattatattctcctgccttttaaaaagatggacttcagcagaaatctttatgatattggggaacaactggacagtgaagatctggcctccctcaagttcctgagcctggactacattccgcaaaggaagcaagaacccatcaaggatgccttgatgttattccagagactccaggaaaagagaatgttggaggaaagcaatctgtccttcctgaaggagctgctcttccgaattaatagactggatttgctgattacctacctaaacactagaaaggaggagatggaaagggaacttcagacaccaggcagggctcaaatttctgcctacagggtcatgctctatcagatttcagaagaagtgagcagatcagaattgaggtcttttaagtttcttttgcaagaggaaatctccaaatgcaaactggatgatgacatgaacctgctggatattttcatagagatggagaagagggtcatcctgggagaaggaaagttggacatcctgaaaagagtctgtgcccaaatcaacaagagcctgctgaagataatcaacgactatgaagaattcagcaaagagagaagcagcagccttgaaggaagtcctgatgaattttcaaatggggaggagttgtgtggggtaatgacaatctcggactctccaagagaacaggatagtgaatcacagactttggacaaagtttaccaaatgaaaagcaaacctcggggatactgtctgatcatcaacaatcacaattttgcaaaagcacgggagaaagtgcccaaacttcacagcattagggacaggaatggaacacacttggatgcaggggctttgaccacgacctttgaagagcttcattttgagatcaagccccacgatgactgcacagtagagcaaatctatgagattttgaaaatctaccaactcatggaccacagtaacatggactgcttcatctgctgtatcctctcccatggagacaagggcatcatctatggcactgatggacaggaggcccccatctatgagctgacatctcagttcactggtttgaagtgcccttcccttgctggaaaacccaaagtgttttttattcaggcttgtcagggggataactaccagaaaggtatacctgttgagactgattcagaggagcaaccctatttagaaatggatttatcatcacctcaaacgagatatatcccggatgaggctgactttctgctggggatggccactgtgaataactgtgtttcctaccgaaaccctgcagagggaacctggtacatccagtcactttgccagagcctgagagagcgatgtcctcgaggcgatgatattctcaccatcctgactgaagtgaactatgaagtaagcaacaaggatgacaagaaaaacatggggaaacagatgcctcagcctactttcacactaagaaaaaaacttgtcttcccttctgattgatggtgctattttgtttgttttgttttgttttgtttttttgagacagaatctcgctctgtcgcccaggctggagtgcagtggcgtgatctcggctcaccgcaagctccgcctcccgggttcaggccattctcctgcctcagcctcccgagtagctgggactacaggggcccgccaccacacctggctaattttttaaaaatatttttagtagagacagggtttcactgtgttagccagggtggtcttgatctcctgacctcgtgatccacccacctcggcctcccaaagtgctgggattacaggcgtgagccaccgcgcctggccgatggtactatttagatataacactatgtttatttactaattttctagattttctactttattaattgttttgcacttttttataagagctaaagttaaataggatattaacaacaataacactgtctcctttctcttatgcttaaggctttgggaatgtttttagctggtggcaataaataccagacacgtacaaaatccagctatgaatatagagggcttatgattcagattgttatctatcaactataagcccactgttaatattctattaactttaattctctttcaaagctaaattccacactaccacattaaaaaaattagaaagtagccacgtatggtggctcatgtctataatcccagcactttgggaggttgaggtgggaggattgcttgaacccaagaggtcaaggctgcagtgagccatgttcacaccgctgcactcaagcttgggtgacagaacaagaccccgtctcaaaaaaaattttttttttaataaaacaaaatttgtttgaaatcttttaaaaattcaaatgatttttacaagttttaaataagctctccccaaacttgctttatgccttcttattgcttttatgatatatatatgcttggctaactatatttgctttttgctaacaatgctctggggtctttttatgcatttgcatttgctctttcatctctgcttggattattttaaatcattaggaattaagttatctttaaaatttaagtatcttttttcaaaaacattttttaatagaataaaatataatttgatcttattaaa
//
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_001073594 -> EC 3.4.22.61
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.