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2024-04-26 02:08:40, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_033294 968 bp mRNA linear PRI 02-JUN-2013
DEFINITION Homo sapiens caspase 1, apoptosis-related cysteine peptidase
(CASP1), transcript variant delta, mRNA.
ACCESSION NM_033294
VERSION NM_033294.3 GI:380254454
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 968)
AUTHORS Datta,D., McClendon,C.L., Jacobson,M.P. and Wells,J.A.
TITLE Substrate and inhibitor-induced dimerization and cooperativity in
caspase-1 but not caspase-3
JOURNAL J. Biol. Chem. 288 (14), 9971-9981 (2013)
PUBMED 23386603
REMARK GeneRIF: Substrate and inhibitor-induced dimerization and
cooperativity in caspase-1 but not caspase-3
REFERENCE 2 (bases 1 to 968)
AUTHORS Savaryn,J.P., Reitsma,J.M., Bigley,T.M., Halligan,B.D., Qian,Z.,
Yu,D. and Terhune,S.S.
TITLE Human cytomegalovirus pUL29/28 and pUL38 repression of
p53-regulated p21CIP1 and caspase 1 promoters during infection
JOURNAL J. Virol. 87 (5), 2463-2474 (2013)
PUBMED 23236067
REMARK GeneRIF: during cytomegalovirus infection, pUL29/28 and pUL38
contributed to inhibition of p21CIP1 and caspase 1 expression;
expression of pUL29/28 and pUL38 contributed to an increase in
steady-state levels of p53; study identified 2 additional HCMV
proteins, pUL29/28 and pUL38, which participate in regulation of
p53 transcription activity
REFERENCE 3 (bases 1 to 968)
AUTHORS Lopez-Castejon,G., Luheshi,N.M., Compan,V., High,S.,
Whitehead,R.C., Flitsch,S., Kirov,A., Prudovsky,I., Swanton,E. and
Brough,D.
TITLE Deubiquitinases regulate the activity of caspase-1 and
interleukin-1beta secretion via assembly of the inflammasome
JOURNAL J. Biol. Chem. 288 (4), 2721-2733 (2013)
PUBMED 23209292
REMARK GeneRIF: Deubiquitinases regulate the activity of caspase-1 and
interleukin-1beta secretion via assembly of the inflammasome
REFERENCE 4 (bases 1 to 968)
AUTHORS Bauer,R.N., Brighton,L.E., Mueller,L., Xiang,Z., Rager,J.E.,
Fry,R.C., Peden,D.B. and Jaspers,I.
TITLE Influenza enhances caspase-1 in bronchial epithelial cells from
asthmatic volunteers and is associated with pathogenesis
JOURNAL J. Allergy Clin. Immunol. 130 (4), 958-967 (2012)
PUBMED 23021143
REMARK GeneRIF: Caspase-1 plays an important role in the airway epithelial
cell response to influenza infection, which is enhanced in
asthmatic volunteers, and may contribute to the enhanced
influenza-related pathogenesis observed in vivo.
REFERENCE 5 (bases 1 to 968)
AUTHORS Wang,Y., He,Y., Abraham,B., Rouhani,F.N., Brantly,M.L., Scott,D.E.
and Reed,J.L.
TITLE Cytosolic, autocrine alpha-1 proteinase inhibitor (A1PI) inhibits
caspase-1 and blocks IL-1beta dependent cytokine release in
monocytes
JOURNAL PLoS ONE 7 (11), E51078 (2012)
PUBMED 23226468
REMARK GeneRIF: Monocyte/macrophage-expressed A1PI-M antagonizes IL-1beta
secretion possibly via caspase-1 inhibition.
REFERENCE 6 (bases 1 to 968)
AUTHORS Gu,Y., Sarnecki,C., Aldape,R.A., Livingston,D.J. and Su,M.S.
TITLE Cleavage of poly(ADP-ribose) polymerase by interleukin-1 beta
converting enzyme and its homologs TX and Nedd-2
JOURNAL J. Biol. Chem. 270 (32), 18715-18718 (1995)
PUBMED 7642516
REFERENCE 7 (bases 1 to 968)
AUTHORS Kronheim,S.R., Mumma,A., Greenstreet,T., Glackin,P.J., Van Ness,K.,
March,C.J. and Black,R.A.
TITLE Purification of interleukin-1 beta converting enzyme, the protease
that cleaves the interleukin-1 beta precursor
JOURNAL Arch. Biochem. Biophys. 296 (2), 698-703 (1992)
PUBMED 1321594
REFERENCE 8 (bases 1 to 968)
AUTHORS Thornberry,N.A., Bull,H.G., Calaycay,J.R., Chapman,K.T.,
Howard,A.D., Kostura,M.J., Miller,D.K., Molineaux,S.M.,
Weidner,J.R., Aunins,J. et al.
TITLE A novel heterodimeric cysteine protease is required for
interleukin-1 beta processing in monocytes
JOURNAL Nature 356 (6372), 768-774 (1992)
PUBMED 1574116
REFERENCE 9 (bases 1 to 968)
AUTHORS Cerretti,D.P., Kozlosky,C.J., Mosley,B., Nelson,N., Van Ness,K.,
Greenstreet,T.A., March,C.J., Kronheim,S.R., Druck,T.,
Cannizzaro,L.A. et al.
TITLE Molecular cloning of the interleukin-1 beta converting enzyme
JOURNAL Science 256 (5053), 97-100 (1992)
PUBMED 1373520
REFERENCE 10 (bases 1 to 968)
AUTHORS Howard,A.D., Kostura,M.J., Thornberry,N., Ding,G.J., Limjuco,G.,
Weidner,J., Salley,J.P., Hogquist,K.A., Chaplin,D.D., Mumford,R.A.
et al.
TITLE IL-1-converting enzyme requires aspartic acid residues for
processing of the IL-1 beta precursor at two distinct sites and
does not cleave 31-kDa IL-1 alpha
JOURNAL J. Immunol. 147 (9), 2964-2969 (1991)
PUBMED 1919001
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AP001153.5, U13699.1 and
AA761907.1.
On Mar 14, 2012 this sequence version replaced gi:73622111.
Summary: This gene encodes a protein which is 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 which
undergo proteolytic processing at conserved aspartic residues to
produce 2 subunits, large and small, that dimerize to form the
active enzyme. This gene was identified by its ability to
proteolytically cleave and activate the inactive precursor of
interleukin-1, a cytokine involved in the processes such as
inflammation, septic shock, and wound healing. This gene has been
shown to induce cell apoptosis and may function in various
developmental stages. Studies of a similar gene in mouse suggest a
role in the pathogenesis of Huntington disease. Alternative
splicing results in transcript variants encoding distinct isoforms.
[provided by RefSeq, Mar 2012].
Transcript Variant: This variant (delta) has multiple differences
in the coding region but the translation remains in frame, compared
to variant alpha. Variant delta encodes a protein lacking two
internal segments, compared to the isoform alpha. Isoform delta
lacks apoptosis-inducing activity.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
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##
RNAseq introns :: mixed/partial sample support ERS025084, ERS025088
[ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-51 AP001153.5 73046-73096 c
52-860 U13699.1 8-816
861-968 AA761907.1 1-108 c
FEATURES Location/Qualifiers
source 1..968
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q23"
gene 1..968
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
/note="caspase 1, apoptosis-related cysteine peptidase"
/db_xref="GeneID:834"
/db_xref="HGNC:1499"
/db_xref="HPRD:00977"
/db_xref="MIM:147678"
exon 1..51
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
/inference="alignment:Splign:1.39.8"
CDS 45..836
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
/EC_number="3.4.22.36"
/note="isoform delta is encoded by transcript variant
delta; interleukin 1-B converting enzyme; IL1B-convertase;
CASP1 nirs variant 1; IL-1 beta-converting enzyme; caspase
1, apoptosis-related cysteine peptidase (interleukin 1,
beta, convertase)"
/codon_start=1
/product="caspase-1 isoform delta"
/protein_id="NP_150636.1"
/db_xref="GI:15431332"
/db_xref="CCDS:CCDS8331.1"
/db_xref="GeneID:834"
/db_xref="HGNC:1499"
/db_xref="HPRD:00977"
/db_xref="MIM:147678"
/translation="
MADKVLKEKRKLFIRSMGEAPQAVQDNPAMPTSSGSEGNVKLCSLEEAQRIWKQKSAEIYPIMDKSSRTRLALIICNEEFDSIPRRTGAEVDITGMTMLLQNLGYSVDVKKNLTASDMTTELEAFAHRPEHKTSDSTFLVFMSHGIREGICGKKHSEQVPDILQLNAIFNMLNTKNCPSLKDKPKVIIIQACRGDNVSWRHPTMGSVFIGRLIEHMQEYACSCDVEEIFRKVRFSFEQPDGRAQMPTTERVTLTRCFYLFPGH
"
misc_feature 120..122
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
/experiment="experimental evidence, no additional details
recorded"
/note="proteolytic cleavage site; modified site"
/db_xref="HPRD:00977"
misc_feature 219..824
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
/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(300..302,477..479,612..614,633..650,660..665)
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
/note="substrate pocket [chemical binding]; other site"
/db_xref="CDD:28914"
misc_feature order(474..476,618..620)
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
/note="active site"
/db_xref="CDD:28914"
misc_feature order(699..701,723..725,741..743,771..773,786..788,
792..794,798..800,807..812)
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
/note="dimer interface [polypeptide binding]; other site"
/db_xref="CDD:28914"
exon 52..102
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
/inference="alignment:Splign:1.39.8"
variation 88
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
/replace="a"
/replace="g"
/db_xref="dbSNP:1042743"
exon 103..218
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
/inference="alignment:Splign:1.39.8"
variation 147
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
/replace="a"
/replace="g"
/db_xref="dbSNP:3203614"
variation 150
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
/replace="c"
/replace="t"
/db_xref="dbSNP:3203615"
variation 175
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
/replace="c"
/replace="t"
/db_xref="dbSNP:3203616"
exon 219..392
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
/inference="alignment:Splign:1.39.8"
exon 393..627
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
/inference="alignment:Splign:1.39.8"
variation 531
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
/replace="c"
/replace="t"
/db_xref="dbSNP:580253"
exon 628..737
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
/inference="alignment:Splign:1.39.8"
STS 641..799
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
/standard_name="IL1BCE"
/db_xref="UniSTS:43934"
exon 738..868
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
/inference="alignment:Splign:1.39.8"
exon 869..961
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
/inference="alignment:Splign:1.39.8"
STS 886..960
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
/standard_name="D11S4052E"
/db_xref="UniSTS:153930"
polyA_signal 919..924
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
polyA_signal 937..942
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
polyA_site 962
/gene="CASP1"
/gene_synonym="ICE; IL1BC; P45"
ORIGIN
atactttcagtttcagtcacacaagaagggaggagagaaaagccatggccgacaaggtcctgaaggagaagagaaagctgtttatccgttccatgggtgaagctcctcaggcagtgcaggacaacccagctatgcccacatcctcaggctcagaagggaatgtcaagctttgctccctagaagaagctcaaaggatatggaaacaaaagtcggcagagatttatccaataatggacaagtcaagccgcacacgtcttgctctcattatctgcaatgaagaatttgacagtattcctagaagaactggagctgaggttgacatcacaggcatgacaatgctgctacaaaatctggggtacagcgtagatgtgaaaaaaaatctcactgcttcggacatgactacagagctggaggcatttgcacaccgcccagagcacaagacctctgacagcacgttcctggtgttcatgtctcatggtattcgggaaggcatttgtgggaagaaacactctgagcaagtcccagatatactacaactcaatgcaatctttaacatgttgaataccaagaactgcccaagtttgaaggacaaaccgaaggtgatcatcatccaggcctgccgtggtgataatgtttcttggagacatcccacaatgggctctgtttttattggaagactcattgaacatatgcaagaatatgcctgttcctgtgatgtggaggaaattttccgcaaggttcgattttcatttgagcagccagatggtagagcgcagatgcccaccactgaaagagtgactttgacaagatgtttctacctcttcccaggacattaaaataaggaaactgtatgaatgtctgtgggcaggaagtgaagagatccttctgtaaaggtttttggaattatgtctgctgaataataaacttttttgaaataataaatctggtagaaaaatgaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:834 -> Molecular function: GO:0004197 [cysteine-type endopeptidase activity] evidence: TAS
GeneID:834 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:834 -> Molecular function: GO:0008656 [cysteine-type endopeptidase activator activity involved in apoptotic process] evidence: TAS
GeneID:834 -> Biological process: GO:0001666 [response to hypoxia] evidence: IEA
GeneID:834 -> Biological process: GO:0006508 [proteolysis] evidence: IDA
GeneID:834 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
GeneID:834 -> Biological process: GO:0006917 [induction of apoptosis] evidence: IEA
GeneID:834 -> Biological process: GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] evidence: TAS
GeneID:834 -> Biological process: GO:0007165 [signal transduction] evidence: TAS
GeneID:834 -> Biological process: GO:0016485 [protein processing] evidence: IEA
GeneID:834 -> Biological process: GO:0032611 [interleukin-1 beta production] evidence: IEA
GeneID:834 -> Biological process: GO:0033198 [response to ATP] evidence: IEA
GeneID:834 -> Biological process: GO:0035872 [nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway] evidence: TAS
GeneID:834 -> Biological process: GO:0043123 [positive regulation of I-kappaB kinase/NF-kappaB cascade] evidence: IEP
GeneID:834 -> Biological process: GO:0045087 [innate immune response] evidence: TAS
GeneID:834 -> Biological process: GO:0050717 [positive regulation of interleukin-1 alpha secretion] evidence: IEA
GeneID:834 -> Biological process: GO:0050718 [positive regulation of interleukin-1 beta secretion] evidence: IEA
GeneID:834 -> Biological process: GO:0051882 [mitochondrial depolarization] evidence: IEA
GeneID:834 -> Biological process: GO:0060081 [membrane hyperpolarization] evidence: IEA
GeneID:834 -> Biological process: GO:0071260 [cellular response to mechanical stimulus] evidence: IEP
GeneID:834 -> Biological process: GO:0071310 [cellular response to organic substance] evidence: IDA
GeneID:834 -> Cellular component: GO:0005576 [extracellular region] evidence: IEA
GeneID:834 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
GeneID:834 -> Cellular component: GO:0072557 [IPAF inflammasome complex] evidence: ISS
GeneID:834 -> Cellular component: GO:0072558 [NLRP1 inflammasome complex] evidence: IDA
GeneID:834 -> Cellular component: GO:0072559 [NLRP3 inflammasome complex] evidence: IDA
GeneID:834 -> Cellular component: GO:0097169 [AIM2 inflammasome complex] evidence: IDA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_150636 -> EC 3.4.22.36
by
@meso_cacase at
DBCLS
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