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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
//

Annotations:

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

by @meso_cacase at DBCLS
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