2024-04-19 11:49:47, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001257118 2019 bp mRNA linear PRI 02-JUN-2013 DEFINITION Homo sapiens caspase 1, apoptosis-related cysteine peptidase (CASP1), transcript variant 6, mRNA. ACCESSION NM_001257118 VERSION NM_001257118.1 GI:380254456 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 2019) 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 2019) 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 2019) 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 2019) 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 2019) 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 2019) 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 2019) 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 2019) 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 2019) 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 2019) 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, AK290114.1 and AA737419.1. 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 (6) differs in the 3' UTR compared to variant alpha. Variant alpha and variant 6 encode the same protein. 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## Transcript exon combination :: AK223503.1, AK290114.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-10 AP001153.5 73087-73096 c 11-981 AK290114.1 2-972 982-982 AP001153.5 67131-67131 c 983-1521 AK290114.1 974-1512 1522-1878 AP001153.5 63578-63934 c 1879-2019 AA737419.1 1-141 c FEATURES Location/Qualifiers source 1..2019 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="11" /map="11q23" gene 1..2019 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /note="caspase 1, apoptosis-related cysteine peptidase" /db_xref="GeneID:834" /db_xref="HGNC:1499" /db_xref="MIM:147678" exon 1..51 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /inference="alignment:Splign:1.39.8" CDS 45..1259 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /EC_number="3.4.22.36" /note="isoform alpha precursor is encoded by transcript variant 6; 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 alpha precursor" /protein_id="NP_001244047.1" /db_xref="GI:380254457" /db_xref="CCDS:CCDS8330.1" /db_xref="GeneID:834" /db_xref="HGNC:1499" /db_xref="MIM:147678" /translation="
MADKVLKEKRKLFIRSMGEGTINGLLDELLQTRVLNKEEMEKVKRENATVMDKTRALIDSVIPKGAQACQICITYICEEDSYLAGTLGLSADQTSGNYLNMQDSQGVLSSFPAPQAVQDNPAMPTSSGSEGNVKLCSLEEAQRIWKQKSAEIYPIMDKSSRTRLALIICNEEFDSIPRRTGAEVDITGMTMLLQNLGYSVDVKKNLTASDMTTELEAFAHRPEHKTSDSTFLVFMSHGIREGICGKKHSEQVPDILQLNAIFNMLNTKNCPSLKDKPKVIIIQACRGDSPGVVWFKDSVGVSGNLSLPTTEEFEDDAIKKAHIEKDFIAFCSSTPDNVSWRHPTMGSVFIGRLIEHMQEYACSCDVEEIFRKVRFSFEQPDGRAQMPTTERVTLTRCFYLFPGH
" misc_feature 57..305 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /note="Caspase activation and recruitment domain found in Caspase-1 and related proteins; Region: CARD_CASP1-like; cd08325" /db_xref="CDD:176739" mat_peptide 402..935 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /product="caspase-1 isoform alpha p20 subunit" misc_feature 498..1247 /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(579..581,756..758,891..893,912..914,1056..1073, 1083..1088) /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /note="substrate pocket [chemical binding]; other site" /db_xref="CDD:28914" misc_feature order(753..755,897..899) /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /note="active site" /db_xref="CDD:28914" misc_feature order(915..917,1011..1016,1035..1037,1044..1046, 1053..1055,1122..1124,1146..1148,1164..1166,1194..1196, 1209..1211,1215..1217,1221..1223,1230..1235) /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /note="dimer interface [polypeptide binding]; other site" /db_xref="CDD:28914" misc_feature order(918..920,1008..1010) /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /note="proteolytic cleavage site; other site" /db_xref="CDD:28914" mat_peptide 993..1256 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /product="caspase-1 isoform alpha p10 subunit" exon 52..318 /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" variation 206 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /replace="c" /replace="t" /db_xref="dbSNP:539595" exon 319..381 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /inference="alignment:Splign:1.39.8" exon 382..497 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /inference="alignment:Splign:1.39.8" variation 426 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /replace="a" /replace="g" /db_xref="dbSNP:3203614" variation 429 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /replace="c" /replace="t" /db_xref="dbSNP:3203615" variation 454 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /replace="c" /replace="t" /db_xref="dbSNP:3203616" exon 498..671 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /inference="alignment:Splign:1.39.8" exon 672..906 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /inference="alignment:Splign:1.39.8" variation 810 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /replace="c" /replace="t" /db_xref="dbSNP:580253" exon 907..1050 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /inference="alignment:Splign:1.39.8" exon 1051..1160 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /inference="alignment:Splign:1.39.8" STS 1064..1222 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /standard_name="IL1BCE" /db_xref="UniSTS:43934" exon 1161..2009 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /inference="alignment:Splign:1.39.8" variation 1351 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /replace="g" /replace="t" /db_xref="dbSNP:476889" variation 1364 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /replace="c" /replace="t" /db_xref="dbSNP:534811" STS 1630..1762 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /standard_name="RH93671" /db_xref="UniSTS:88476" variation 1727 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /replace="c" /replace="t" /db_xref="dbSNP:488992" STS 1934..2008 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" /standard_name="D11S4052E" /db_xref="UniSTS:153930" polyA_signal 1967..1972 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" polyA_signal 1985..1990 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" polyA_site 2009 /gene="CASP1" /gene_synonym="ICE; IL1BC; P45" ORIGIN
atactttcagtttcagtcacacaagaagggaggagagaaaagccatggccgacaaggtcctgaaggagaagagaaagctgtttatccgttccatgggtgaaggtacaataaatggcttactggatgaattattacagacaagggtgctgaacaaggaagagatggagaaagtaaaacgtgaaaatgctacagttatggataagacccgagctttgattgactccgttattccgaaaggggcacaggcatgccaaatttgcatcacatacatttgtgaagaagacagttacctggcagggacgctgggactctcagcagatcaaacatctggaaattaccttaatatgcaagactctcaaggagtactttcttcctttccagctcctcaggcagtgcaggacaacccagctatgcccacatcctcaggctcagaagggaatgtcaagctttgctccctagaagaagctcaaaggatatggaaacaaaagtcggcagagatttatccaataatggacaagtcaagccgcacacgtcttgctctcattatctgcaatgaagaatttgacagtattcctagaagaactggagctgaggttgacatcacaggcatgacaatgctgctacaaaatctggggtacagcgtagatgtgaaaaaaaatctcactgcttcggacatgactacagagctggaggcatttgcacaccgcccagagcacaagacctctgacagcacgttcctggtgttcatgtctcatggtattcgggaaggcatttgtgggaagaaacactctgagcaagtcccagatatactacaactcaatgcaatctttaacatgttgaataccaagaactgcccaagtttgaaggacaaaccgaaggtgatcatcatccaggcctgccgtggtgacagccctggtgtggtgtggtttaaagattcagtaggagtttctggaaacctatctttaccaactacagaagagtttgaggatgatgctattaagaaagcccacatagagaaggattttatcgctttctgctcttccacaccagataatgtttcttggagacatcccacaatgggctctgtttttattggaagactcattgaacatatgcaagaatatgcctgttcctgtgatgtggaggaaattttccgcaaggttcgattttcatttgagcagccagatggtagagcgcagatgcccaccactgaaagagtgactttgacaagatgtttctacctcttcccaggacattaaaataaggaaactgtatgaatgtctgtgggcaggtacatgtgtatggtcgggagtgtgggaaggttgaggaaagggtactgaaagtccatttgagtcaagaactctaggtttacaggctgagaatccttaatccaaaaatttgaattttgaaatgctctaaaatccaacactgtgtgagcgcccacatgatattcaaaggaaatgtttattgaaacatttcaaattataggtttttggattagggatgctaaaccagtaagtatacagctgaattccaatatacaaaaatatctgaaatttgaaatacttctggtagcatgcattttggataagggataatcaagccatatacagaaaatactgaagtaatgcctttcttctggtcagtgcagagcacgttgctcttctcccaaagtttttcatttagaccccttttgagattcatctgatattggcctagaagtggccgtaagactacaaaccctcacttttggatgtttctctccttcacctcagcagggtatatttaaacatagcatgtggtctttccttttaaaattgtgtatgttcccattggtggtataactttataacttgcatgtctttaaccaaattctttcctatgtttttttttttaattatttctttttctcataggaagtgaagagatccttctgtaaaggtttttggaattatgtctgctgaataataaacttttttgaaataataaatctggtagaaaaatgaaaaaaaaaaaaaa
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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_001244047 -> EC 3.4.22.36
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