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2024-04-24 14:14:20, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001228 2914 bp mRNA linear PRI 09-JUN-2013
DEFINITION Homo sapiens caspase 8, apoptosis-related cysteine peptidase
(CASP8), transcript variant A, mRNA.
ACCESSION NM_001228
VERSION NM_001228.4 GI:122056470
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 2914)
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 2914)
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 2914)
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 2914)
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 2914)
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 2914)
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 2914)
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 2914)
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 2914)
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 2914)
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, U60520.1,
BC028223.2, AC007256.5 and AI351872.1.
This sequence is a reference standard in the RefSeqGene project.
On Jan 12, 2007 this sequence version replaced gi:73623018.
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 (A), also known as Alpha-4, has
multiple differences in the 5' UTR and coding region, compared to
variant G. It encodes isoform A which is shorter than 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 :: U60520.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025084, ERS025088 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: full length.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-47 DA420056.1 1-47
48-1204 U60520.1 1-1157
1205-1658 BC028223.2 1014-1467
1659-2639 AC007256.5 130031-131011 c
2640-2914 AI351872.1 1-275 c
FEATURES Location/Qualifiers
source 1..2914
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2q33-q34"
gene 1..2914
/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..180
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 161
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="g"
/replace="t"
/db_xref="dbSNP:34609836"
variation 163
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:13020440"
exon 181..277
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
misc_feature 274..276
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/note="upstream in-frame stop codon"
exon 278..608
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 292
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="c"
/db_xref="dbSNP:200484909"
CDS 304..1794
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/EC_number="3.4.22.61"
/note="isoform A precursor is encoded by transcript
variant A; 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 A precursor"
/protein_id="NP_001219.2"
/db_xref="GI:15718704"
/db_xref="CCDS:CCDS42799.1"
/db_xref="GeneID:841"
/db_xref="HGNC:1509"
/db_xref="HPRD:03459"
/db_xref="MIM:601763"
/translation="
MDFSRNLYDIGEQLDSEDLASLKFLSLDYIPQRKQEPIKDALMLFQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLNTRKEEMERELQTPGRAQISAYRFHFCRMSWAEANSQCQTQSVPFWRRVDHLLIRVMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDILKRVCAQINKSLLKIINDYEEFSKGEELCGVMTISDSPREQDSESQTLDKVYQMKSKPRGYCLIINNHNFAKAREKVPKLHSIRDRNGTHLDAGALTTTFEELHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIYELTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRYIPDEADFLLGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEVSNKDDKKNMGKQMPQPTFTLRKKLVFPSD
"
misc_feature 310..555
/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(349..354,364..366,373..378,382..387,493..495,
505..507)
/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(355..357,514..516,520..522)
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/note="charge triad; other site"
/db_xref="CDD:176745"
misc_feature 688..690
/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 703..939
/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 982..984
/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 1000..1002
/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 1003..1323
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/product="caspase-8 isoform A subunit p18"
misc_feature 1009..1011
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1027..1785
/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(1132..1134,1306..1308,1426..1428,1447..1449,
1582..1599,1609..1614)
/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(1303..1305,1432..1434)
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/note="active site"
/db_xref="CDD:28914"
misc_feature order(1450..1452,1537..1542,1561..1563,1570..1572,
1579..1581,1648..1650,1675..1677,1693..1695,1735..1737,
1750..1755,1759..1761,1768..1773)
/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(1453..1455,1534..1536)
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/note="proteolytic cleavage site; other site"
/db_xref="CDD:28914"
misc_feature 1474..1476
/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 1504..1506
/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"
STS 304..549
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/standard_name="RH70951"
/db_xref="UniSTS:19740"
variation 387
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:368413113"
variation 402
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="g"
/replace="t"
/db_xref="dbSNP:138862018"
variation 462
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:200261147"
variation 477
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:374717331"
variation 560
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:61995876"
variation 565
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:374010917"
variation 605
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:376330981"
exon 609..704
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 613
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:371728950"
variation 618
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:377216101"
variation 623
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:368609027"
variation 625
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:372378810"
variation 635
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="c"
/db_xref="dbSNP:376590303"
variation 697
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:11897628"
exon 705..810
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 738
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:17860422"
variation 769
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:373203074"
variation 786
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:368684291"
variation 798
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:150515363"
exon 811..949
/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="c"
/replace="t"
/db_xref="dbSNP:142688117"
variation 831
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:149933993"
variation 842
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:148697064"
variation 851
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:367807709"
variation 894
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:201525799"
exon 950..1014
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 994
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="g"
/replace="t"
/db_xref="dbSNP:146816437"
variation 1009
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:35976359"
exon 1015..1156
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 1033
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:143410219"
variation 1096
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:17860424"
variation 1121
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:112383550"
variation 1143
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:35142591"
exon 1157..1658
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 1169
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:139337151"
variation 1197
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="c"
/db_xref="dbSNP:199934929"
variation 1206
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:138030956"
variation 1207
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:1045485"
variation 1245
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:17860426"
variation 1246
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:146286958"
STS 1248..1627
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/standard_name="PMC230316P2"
/db_xref="UniSTS:272180"
variation 1266
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:139361998"
variation 1273
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:148960588"
variation 1314
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:1045487"
variation 1326
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:368087314"
variation 1335
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:372973743"
variation 1402
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:202185417"
variation 1440
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:377204617"
variation 1491
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:369704935"
variation 1523
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:373673288"
variation 1535..1536
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace=""
/replace="c"
/db_xref="dbSNP:34208389"
variation 1536
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:190041873"
variation 1538
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="t"
/db_xref="dbSNP:150243843"
exon 1659..2911
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/inference="alignment:Splign:1.39.8"
variation 1846
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:34857899"
variation 1854
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:13425113"
STS 1857..1959
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/standard_name="D11S2921"
/db_xref="UniSTS:152074"
STS 1864..1953
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/standard_name="PMC156606P1"
/db_xref="UniSTS:271408"
variation 1865
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:41309822"
variation 1877
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:17860428"
variation 1892
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:36155452"
variation 1893
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:13425383"
variation 1901
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:184368293"
variation 1909
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:370257689"
variation 1916
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:3185378"
variation 1940
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:201516518"
variation 1960
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:35474602"
variation 1969
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:2141331"
STS 2076..2494
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/standard_name="GDB:631813"
/db_xref="UniSTS:158430"
variation 2110
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:35419671"
variation 2205
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="g"
/db_xref="dbSNP:17860432"
variation 2223
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:17860433"
variation 2258
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:1045494"
variation 2272
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:1045495"
variation 2385
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:187758494"
variation 2457
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:193117251"
variation 2469
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:368491883"
variation 2500
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="c"
/replace="t"
/db_xref="dbSNP:11551927"
variation 2549
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:145519245"
STS 2552..2697
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/standard_name="RH78960"
/db_xref="UniSTS:4072"
variation 2568
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:1128421"
variation 2583
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:1128423"
variation 2585
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:1045501"
variation 2606..2607
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace=""
/replace="aa"
/db_xref="dbSNP:71769639"
variation 2615
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace=""
/replace="t"
/db_xref="dbSNP:34552705"
variation 2639
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="t"
/db_xref="dbSNP:13113"
variation 2667
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace="a"
/replace="g"
/db_xref="dbSNP:371966481"
variation 2720..2721
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace=""
/replace="at"
/db_xref="dbSNP:34461625"
variation 2721..2722
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
/replace=""
/replace="at"
/db_xref="dbSNP:373026882"
polyA_signal 2888..2893
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
polyA_site 2909
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
polyA_site 2911
/gene="CASP8"
/gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
ORIGIN
gtgctctgagtttttggtttctgtttcaccttgtgtctgagctggtctgaaggctggttgttcagactgagcttcctgcctgcctgtaccccgccaacagcttcagaagaaggtgactggtggctgcctgaggaataccagtgggcaagagaattagcatttctggagcatctgctgtctgagcagcccctgggtgcgtccactttctgggcacgtgaggttgggccttggccgcctgagcccttgagttggtcacttgaaccttgggaatattgagattatattctcctgccttttaaaaagatggacttcagcagaaatctttatgatattggggaacaactggacagtgaagatctggcctccctcaagttcctgagcctggactacattccgcaaaggaagcaagaacccatcaaggatgccttgatgttattccagagactccaggaaaagagaatgttggaggaaagcaatctgtccttcctgaaggagctgctcttccgaattaatagactggatttgctgattacctacctaaacactagaaaggaggagatggaaagggaacttcagacaccaggcagggctcaaatttctgcctacaggttccacttctgccgcatgagctgggctgaagcaaacagccagtgccagacacagtctgtacctttctggcggagggtcgatcatctattaataagggtcatgctctatcagatttcagaagaagtgagcagatcagaattgaggtcttttaagtttcttttgcaagaggaaatctccaaatgcaaactggatgatgacatgaacctgctggatattttcatagagatggagaagagggtcatcctgggagaaggaaagttggacatcctgaaaagagtctgtgcccaaatcaacaagagcctgctgaagataatcaacgactatgaagaattcagcaaaggggaggagttgtgtggggtaatgacaatctcggactctccaagagaacaggatagtgaatcacagactttggacaaagtttaccaaatgaaaagcaaacctcggggatactgtctgatcatcaacaatcacaattttgcaaaagcacgggagaaagtgcccaaacttcacagcattagggacaggaatggaacacacttggatgcaggggctttgaccacgacctttgaagagcttcattttgagatcaagccccacgatgactgcacagtagagcaaatctatgagattttgaaaatctaccaactcatggaccacagtaacatggactgcttcatctgctgtatcctctcccatggagacaagggcatcatctatggcactgatggacaggaggcccccatctatgagctgacatctcagttcactggtttgaagtgcccttcccttgctggaaaacccaaagtgttttttattcaggcttgtcagggggataactaccagaaaggtatacctgttgagactgattcagaggagcaaccctatttagaaatggatttatcatcacctcaaacgagatatatcccggatgaggctgactttctgctggggatggccactgtgaataactgtgtttcctaccgaaaccctgcagagggaacctggtacatccagtcactttgccagagcctgagagagcgatgtcctcgaggcgatgatattctcaccatcctgactgaagtgaactatgaagtaagcaacaaggatgacaagaaaaacatggggaaacagatgcctcagcctactttcacactaagaaaaaaacttgtcttcccttctgattgatggtgctattttgtttgttttgttttgttttgtttttttgagacagaatctcgctctgtcgcccaggctggagtgcagtggcgtgatctcggctcaccgcaagctccgcctcccgggttcaggccattctcctgcctcagcctcccgagtagctgggactacaggggcccgccaccacacctggctaattttttaaaaatatttttagtagagacagggtttcactgtgttagccagggtggtcttgatctcctgacctcgtgatccacccacctcggcctcccaaagtgctgggattacaggcgtgagccaccgcgcctggccgatggtactatttagatataacactatgtttatttactaattttctagattttctactttattaattgttttgcacttttttataagagctaaagttaaataggatattaacaacaataacactgtctcctttctcttatgcttaaggctttgggaatgtttttagctggtggcaataaataccagacacgtacaaaatccagctatgaatatagagggcttatgattcagattgttatctatcaactataagcccactgttaatattctattaactttaattctctttcaaagctaaattccacactaccacattaaaaaaattagaaagtagccacgtatggtggctcatgtctataatcccagcactttgggaggttgaggtgggaggattgcttgaacccaagaggtcaaggctgcagtgagccatgttcacaccgctgcactcaagcttgggtgacagaacaagaccccgtctcaaaaaaaattttttttttaataaaacaaaatttgtttgaaatcttttaaaaattcaaatgatttttacaagttttaaataagctctccccaaacttgctttatgccttcttattgcttttatgatatatatatgcttggctaactatatttgctttttgctaacaatgctctggggtctttttatgcatttgcatttgctctttcatctctgcttggattattttaaatcattaggaattaagttatctttaaaatttaagtatcttttttcaaaaacattttttaatagaataaaatataatttgatcttattaaa
//
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_001219 -> EC 3.4.22.61
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.