2024-03-29 16:36:16, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001278054 2588 bp mRNA linear PRI 17-JUN-2013 DEFINITION Homo sapiens caspase 9, apoptosis-related cysteine peptidase (CASP9), transcript variant beta, mRNA. ACCESSION NM_001278054 VERSION NM_001278054.1 GI:493798716 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 2588) AUTHORS Hagen,R.M., Chedea,V.S., Mintoff,C.P., Bowler,E., Morse,H.R. and Ladomery,M.R. TITLE Epigallocatechin-3-gallate promotes apoptosis and expression of the caspase 9a splice variant in PC3 prostate cancer cells JOURNAL Int. J. Oncol. 43 (1), 194-200 (2013) PUBMED 23615977 REFERENCE 2 (bases 1 to 2588) AUTHORS Arrouss,I., Nemati,F., Roncal,F., Wislez,M., Dorgham,K., Vallerand,D., Rabbe,N., Karboul,N., Carlotti,F., Bravo,J., Mazier,D., Decaudin,D. and Rebollo,A. TITLE Specific targeting of caspase-9/PP2A interaction as potential new anti-cancer therapy JOURNAL PLoS ONE 8 (4), E60816 (2013) PUBMED 23637769 REMARK Publication Status: Online-Only REFERENCE 3 (bases 1 to 2588) AUTHORS Shiozaki,E.N., Chai,J., Rigotti,D.J., Riedl,S.J., Li,P., Srinivasula,S.M., Alnemri,E.S., Fairman,R. and Shi,Y. TITLE Mechanism of XIAP-mediated inhibition of caspase-9 JOURNAL Mol. Cell 11 (2), 519-527 (2003) PUBMED 12620238 REFERENCE 4 (bases 1 to 2588) AUTHORS Srinivasula,S.M., Hegde,R., Saleh,A., Datta,P., Shiozaki,E., Chai,J., Lee,R.A., Robbins,P.D., Fernandes-Alnemri,T., Shi,Y. and Alnemri,E.S. TITLE A conserved XIAP-interaction motif in caspase-9 and Smac/DIABLO regulates caspase activity and apoptosis JOURNAL Nature 410 (6824), 112-116 (2001) PUBMED 11242052 REMARK Erratum:[Nature 2001 Jun 28;411(6841):1081] REFERENCE 5 (bases 1 to 2588) AUTHORS Hadano,S., Nasir,J., Nichol,K., Rasper,D.M., Vaillancourt,J.P., Sherer,S.W., Beatty,B.G., Ikeda,J.E., Nicholson,D.W. and Hayden,M.R. TITLE Genomic organization of the human caspase-9 gene on Chromosome 1p36. 1-p36.3 JOURNAL Mamm. Genome 10 (7), 757-760 (1999) PUBMED 10384055 REFERENCE 6 (bases 1 to 2588) AUTHORS Stennicke,H.R., Deveraux,Q.L., Humke,E.W., Reed,J.C., Dixit,V.M. and Salvesen,G.S. TITLE Caspase-9 can be activated without proteolytic processing JOURNAL J. Biol. Chem. 274 (13), 8359-8362 (1999) PUBMED 10085063 REFERENCE 7 (bases 1 to 2588) AUTHORS Srinivasula,S.M., Ahmad,M., Fernandes-Alnemri,T. and Alnemri,E.S. TITLE Autoactivation of procaspase-9 by Apaf-1-mediated oligomerization JOURNAL Mol. Cell 1 (7), 949-957 (1998) PUBMED 9651578 REFERENCE 8 (bases 1 to 2588) AUTHORS Li,P., Nijhawan,D., Budihardjo,I., Srinivasula,S.M., Ahmad,M., Alnemri,E.S. and Wang,X. TITLE Cytochrome c and dATP-dependent formation of Apaf-1/caspase-9 complex initiates an apoptotic protease cascade JOURNAL Cell 91 (4), 479-489 (1997) PUBMED 9390557 REFERENCE 9 (bases 1 to 2588) AUTHORS Srinivasula,S.M., Fernandes-Alnemri,T., Zangrilli,J., Robertson,N., Armstrong,R.C., Wang,L., Trapani,J.A., Tomaselli,K.J., Litwack,G. and Alnemri,E.S. TITLE The Ced-3/interleukin 1beta converting enzyme-like homolog Mch6 and the lamin-cleaving enzyme Mch2alpha are substrates for the apoptotic mediator CPP32 JOURNAL J. Biol. Chem. 271 (43), 27099-27106 (1996) PUBMED 8900201 REFERENCE 10 (bases 1 to 2588) AUTHORS Duan,H., Orth,K., Chinnaiyan,A.M., Poirier,G.G., Froelich,C.J., He,W.W. and Dixit,V.M. TITLE ICE-LAP6, a novel member of the ICE/Ced-3 gene family, is activated by the cytotoxic T cell protease granzyme B JOURNAL J. Biol. Chem. 271 (28), 16720-16724 (1996) PUBMED 8663294 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL512883.5 and AB015653.1. 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 which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein can undergo autoproteolytic processing and activation by the apoptosome, a protein complex of cytochrome c and the apoptotic peptidase activating factor 1; this step is thought to be one of the earliest in the caspase activation cascade. This protein is thought to play a central role in apoptosis and to be a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]. Transcript Variant: This variant (beta) lacks several alternate in-frame exons in the coding region compared to variant alpha. It encodes isoform beta (also known as caspase-9S, caspase-9 beta, caspase-9b) which is shorter compared to isoform alpha. 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 :: AB015653.1, AF093130.1 [ECO:0000332] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-224 AL512883.5 92612-92835 c 225-1361 AB015653.1 1-1137 1362-2588 AL512883.5 59791-61017 c FEATURES Location/Qualifiers source 1..2588 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1p36.21" gene 1..2588 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /note="caspase 9, apoptosis-related cysteine peptidase" /db_xref="GeneID:842" /db_xref="HGNC:1511" /db_xref="MIM:602234" exon 1..377 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /inference="alignment:Splign:1.39.8" misc_feature 138..140 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /note="upstream in-frame stop codon" CDS 246..1046 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /EC_number="3.4.22.62" /note="isoform beta is encoded by transcript variant beta; apoptotic protease MCH-6; apoptotic protease activating factor 3; ICE-like apoptotic protease 6; protein phosphatase 1, regulatory subunit 56" /codon_start=1 /product="caspase-9 isoform beta" /protein_id="NP_001264983.1" /db_xref="GI:493798717" /db_xref="GeneID:842" /db_xref="HGNC:1511" /db_xref="MIM:602234" /translation="
MDEADRRLLRRCRLRLVEELQVDQLWDALLSRELFRPHMIEDIQRAGSGSRRDQARQLIIDLETRGSQALPLFISCLEDTGQDMLASFLRTNRQAAKLSKPTLENLTPVVLRPEIRKPEVLRPETPRPVDIGSGGFGDVEQKDHGFEVASTSPEDESPGSNPEPDATPFQEGLRTFDQLDAISSLPTPSDIFVSYSTFPGFVSWRDPKSGSWYVETLDDIFEQWAHSEDLQSLLLRVANAVSVKGIYKQMPGCFNFLRKKLFFKTS
" misc_feature 294..515 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /note="Caspase activation and recruitment domain of Caspase-9; Region: CARD_CASP9; cd08326" /db_xref="CDD:176740" misc_feature order(294..296,399..401,411..413,423..425,432..434) /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /note="Caspase9-APAF1 interaction site; other site" /db_xref="CDD:176740" misc_feature 618..620 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /experiment="experimental evidence, no additional details recorded" /note="Phosphothreonine, by MAPK1; propagated from UniProtKB/Swiss-Prot (P55211.3); phosphorylation site" misc_feature <663..1037 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /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; cl00042" /db_xref="CDD:241567" misc_feature order(669..671,849..866,876..881) /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /note="substrate pocket [chemical binding]; other site" /db_xref="CDD:237997" misc_feature order(672..674,804..809,828..830,837..839,846..848, 915..917,939..941,957..959,987..989,1002..1007,1011..1013, 1020..1025) /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /note="dimer interface [polypeptide binding]; other site" /db_xref="CDD:237997" misc_feature order(675..677,801..803) /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /note="proteolytic cleavage site; other site" /db_xref="CDD:237997" variation 328 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /replace="c" /replace="t" /db_xref="dbSNP:1052571" variation 338 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /replace="c" /replace="t" /db_xref="dbSNP:4645983" variation 339 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:1132310" exon 378..663 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /inference="alignment:Splign:1.39.8" variation 541 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /replace="c" /replace="t" /db_xref="dbSNP:4646008" variation 550 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /replace="c" /replace="t" /db_xref="dbSNP:2308941" variation 561 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:2308938" variation 587 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:2020897" variation 653 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /replace="a" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:1132312" exon 664..843 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /inference="alignment:Splign:1.39.8" exon 844..953 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /inference="alignment:Splign:1.39.8" exon 954..2588 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /inference="alignment:Splign:1.39.8" STS 975..1774 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /standard_name="CASP9_492" /db_xref="UniSTS:277053" variation 1366..1367 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /replace="" /replace="at" /db_xref="dbSNP:4646104" STS 1498..1626 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /standard_name="SHGC-74255" /db_xref="UniSTS:61340" variation 1614 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /replace="c" /replace="t" /db_xref="dbSNP:1052592" variation 1638 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /replace="c" /replace="t" /db_xref="dbSNP:1052596" polyA_signal 1692..1697 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" polyA_site 1714 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /note="The 3' most polyA site has not been determined. This is an internal site." STS 2240..2447 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /standard_name="SHGC-67307" /db_xref="UniSTS:89991" variation 2274 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /replace="c" /replace="t" /db_xref="dbSNP:4646105" variation 2335 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /replace="a" /replace="t" /db_xref="dbSNP:4646106" variation 2505 /gene="CASP9" /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56" /replace="a" /replace="c" /db_xref="dbSNP:4646107" ORIGIN
ttggccctgggggcggggcgaggcgcagaggtgcgtcctgagggcggggcggtgacgcaagagcgactcctgggggcggggcgaggccttggagatgcgtccggaggcggtggggagcgaagactgacccggggccgtgacgcgggggcaggccctggggcgggggcgggtcctggggactggggcgggcggccgaggcccggaagcggactgaggcggcctggagtcttagttggctactcgccatggacgaagcggatcggcggctcctgcggcggtgccggctgcggctggtggaagagctgcaggtggaccagctctgggacgccctgctgagccgcgagctgttcaggccccatatgatcgaggacatccagcgggcaggctctggatctcggcgggatcaggccaggcagctgatcatagatctggagactcgagggagtcaggctcttcctttgttcatctcctgcttagaggacacaggccaggacatgctggcttcgtttctgcgaactaacaggcaagcagcaaagttgtcgaagccaaccctagaaaaccttaccccagtggtgctcagaccagagattcgcaaaccagaggttctcagaccggaaacacccagaccagtggacattggttctggaggatttggtgatgtcgagcagaaagaccatgggtttgaggtggcctccacttcccctgaagacgagtcccctggcagtaaccccgagccagatgccaccccgttccaggaaggtttgaggaccttcgaccagctggacgccatatctagtttgcccacacccagtgacatctttgtgtcctactctactttcccaggttttgtttcctggagggaccccaagagtggctcctggtacgttgagaccctggacgacatctttgagcagtgggctcactctgaagacctgcagtccctcctgcttagggtcgctaatgctgtttcggtgaaagggatttataaacagatgcctggttgctttaatttcctccggaaaaaacttttctttaaaacatcataaggccagggcccctcaccctgccttatcttgcaccccaaagctttcctgccccaggcctgaaagaggctgaggcctggactttcctgcaactcaaggactttgcagccggcacagggtctgctctttctctgccagtgacagacaggctcttagcagcttccagattgacgacaagtgctgaacagtggaggaagagggacagatgaatgccgtggattgcacgtggcctcttgagcagtggctggtccagggctagtgacttgtgtcccatgatccctgtgttgtctctagagcagggattaacctctgcactactgacatgtggggccaggtcaccctttgctgtgaggctgtcctgtacattgtgggatgttcagcactgtcccttgcctcaatgccagtaacgcgtcttcctgagtggtgccaaacaaaaaggttctcaggtgttgccaaatatgtcctggggtataaaactttcctcgcctgacaaccactggtctgtagggatttttggctacacacaaaccagtatcgctcatagatcagcaaaccggggcctactagagtctgaacagctgtaatctatgaattctaagtgaaattttaaaaattgttaatttttcctatattgcattaattttaaaaaataaatctgaggcaaatatggactctcttttgcctatttcttccctcattttgctccaactctttcttcttccttacaaaagagacttttgcttttttcgaaacatttccccatgtttttctggggtctcgctatgttgcccaggctggtctcaaactcctgggctcaagtgaccctcccaagtagctcttactacaggcgtgcaccattgcacccagccccatttattcatgtcttatttcacttgatccttatcccatcccaggaaggcaacaagggtgagaaccctgtgctcagggaggttaggtctcttgtccaagggaaaacgattatccagagaagagacctggccagaacctgggtcccctgagtcctagccatgcttcccatgtgccttacttgctgaagcacccccggactgcagtgtgaacgtgctgtgcaatagtgacacgctgggcttccccacaaggctccaccctgaggtcttttaagctgtccttatgccagcctatttcttgttttttgggcctttttttttggagatagggtctcactctgtcgcccaggctggagtgcaatgacgcaatcttggcttattgcagtctcgacctcctgggctcaagagatccttccacctcagccacctgagtagcttggactacaggtgtgcaccacctctcccagttaatttttgtatttttagtagagacagagttatgccatgttactcaggctggtcttgaactcctggactcaagcgatcagcctgccttagcctcccaaagtgcaggggttacaggcttgagccattgcgcctgacctatttctggttcttagggccctggatgttaggatggatttctgaattaataataataataaaaccctcatcaaga
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:842 -> Molecular function: GO:0004197 [cysteine-type endopeptidase activity] evidence: IEA GeneID:842 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:842 -> Molecular function: GO:0008047 [enzyme activator activity] evidence: TAS GeneID:842 -> Molecular function: GO:0008233 [peptidase activity] evidence: IDA GeneID:842 -> Molecular function: GO:0017124 [SH3 domain binding] evidence: IDA GeneID:842 -> Molecular function: GO:0019901 [protein kinase binding] evidence: IDA GeneID:842 -> Biological process: GO:0006508 [proteolysis] evidence: IEA GeneID:842 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:842 -> Biological process: GO:0006974 [response to DNA damage stimulus] evidence: IDA GeneID:842 -> Biological process: GO:0007173 [epidermal growth factor receptor signaling pathway] evidence: TAS GeneID:842 -> Biological process: GO:0008543 [fibroblast growth factor receptor signaling pathway] evidence: TAS GeneID:842 -> Biological process: GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage] evidence: IMP GeneID:842 -> Biological process: GO:0008635 [activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c] evidence: TAS GeneID:842 -> Biological process: GO:0034644 [cellular response to UV] evidence: IDA GeneID:842 -> Biological process: GO:0038095 [Fc-epsilon receptor signaling pathway] evidence: TAS GeneID:842 -> Biological process: GO:0042770 [signal transduction in response to DNA damage] evidence: IDA GeneID:842 -> Biological process: GO:0042981 [regulation of apoptotic process] evidence: TAS GeneID:842 -> Biological process: GO:0043065 [positive regulation of apoptotic process] evidence: TAS GeneID:842 -> Biological process: GO:0043525 [positive regulation of neuron apoptotic process] evidence: IEA GeneID:842 -> Biological process: GO:0045087 [innate immune response] evidence: TAS GeneID:842 -> Biological process: GO:0048011 [neurotrophin TRK receptor signaling pathway] evidence: TAS GeneID:842 -> Biological process: GO:0048015 [phosphatidylinositol-mediated signaling] evidence: TAS GeneID:842 -> Biological process: GO:0071549 [cellular response to dexamethasone stimulus] evidence: IEA GeneID:842 -> Biological process: GO:0097193 [intrinsic apoptotic signaling pathway] evidence: TAS GeneID:842 -> Biological process: GO:2001020 [regulation of response to DNA damage stimulus] evidence: IMP GeneID:842 -> Cellular component: GO:0005634 [nucleus] evidence: IEA GeneID:842 -> Cellular component: GO:0005829 [cytosol] evidence: TAS GeneID:842 -> Cellular component: GO:0043293 [apoptosome] evidence: IDA
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