LOCUS       NM_001229               2808 bp    mRNA    linear   PRI 01-JUL-2024
DEFINITION  Homo sapiens caspase 9 (CASP9), transcript variant alpha, mRNA.
ACCESSION   NM_001229
VERSION     NM_001229.5
KEYWORDS    RefSeq; MANE Select.
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 2808)
  AUTHORS   Ghorbani,N., Shiri,M., Alian,M., Yaghubi,R., Shafaghi,M.,
            Hojjat,H., Pahlavan,S. and Davoodi,J.
  TITLE     A Non-Apoptotic Pattern of Caspase-9/Caspase-3 Activation During
            Differentiation of Human Embryonic Stem Cells into Cardiomyocytes
  JOURNAL   Adv Biol (Weinh) 8 (6), e2400026 (2024)
   PUBMED   38640919
  REMARK    GeneRIF: A Non-Apoptotic Pattern of Caspase-9/Caspase-3 Activation
            During Differentiation of Human Embryonic Stem Cells into
            Cardiomyocytes.
REFERENCE   2  (bases 1 to 2808)
  AUTHORS   Del Bufalo,F., De Angelis,B., Caruana,I., Del Baldo,G., De
            Ioris,M.A., Serra,A., Mastronuzzi,A., Cefalo,M.G., Pagliara,D.,
            Amicucci,M., Li Pira,G., Leone,G., Bertaina,V., Sinibaldi,M., Di
            Cecca,S., Guercio,M., Abbaszadeh,Z., Iaffaldano,L., Gunetti,M.,
            Iacovelli,S., Bugianesi,R., Macchia,S., Algeri,M., Merli,P.,
            Galaverna,F., Abbas,R., Garganese,M.C., Villani,M.F.,
            Colafati,G.S., Bonetti,F., Rabusin,M., Perruccio,K., Folsi,V.,
            Quintarelli,C. and Locatelli,F.
  CONSRTM   Precision Medicine Team-IRCCS Ospedale Pediatrico Bambino Gesu
  TITLE     GD2-CART01 for Relapsed or Refractory High-Risk Neuroblastoma
  JOURNAL   N Engl J Med 388 (14), 1284-1295 (2023)
   PUBMED   37018492
  REMARK    GeneRIF: GD2-CART01 for Relapsed or Refractory High-Risk
            Neuroblastoma.
REFERENCE   3  (bases 1 to 2808)
  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 2808)
  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 2808)
  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 2808)
  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 2808)
  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 2808)
  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 2808)
  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 2808)
  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 BC006463.1 and AL512883.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001229.4.
            
            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 (alpha) encodes the longest
            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 :: SRR1660807.202048.1,
                                           SRR1803612.251900.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000333868.10/ ENSP00000330237.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1913              BC006463.1         81-1993
            1914-2808           AL512883.5         59791-60685         c
FEATURES             Location/Qualifiers
     source          1..2808
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.21"
     gene            1..2808
                     /gene="CASP9"
                     /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56"
                     /note="caspase 9"
                     /db_xref="GeneID:842"
                     /db_xref="HGNC:HGNC:1511"
                     /db_xref="MIM:602234"
     exon            1..147
                     /gene="CASP9"
                     /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56"
                     /inference="alignment:Splign:2.1.0"
     CDS             16..1266
                     /gene="CASP9"
                     /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56"
                     /EC_number="3.4.22.62"
                     /note="isoform alpha precursor is encoded by transcript
                     variant alpha; apoptotic protease MCH-6; apoptotic
                     protease activating factor 3; ICE-like apoptotic protease
                     6; protein phosphatase 1, regulatory subunit 56; caspase
                     9, apoptosis-related cysteine peptidase"
                     /codon_start=1
                     /product="caspase-9 isoform alpha precursor"
                     /protein_id="NP_001220.2"
                     /db_xref="CCDS:CCDS158.1"
                     /db_xref="GeneID:842"
                     /db_xref="HGNC:HGNC:1511"
                     /db_xref="MIM:602234"
                     /translation="MDEADRRLLRRCRLRLVEELQVDQLWDALLSRELFRPHMIEDIQ
                     RAGSGSRRDQARQLIIDLETRGSQALPLFISCLEDTGQDMLASFLRTNRQAAKLSKPT
                     LENLTPVVLRPEIRKPEVLRPETPRPVDIGSGGFGDVGALESLRGNADLAYILSMEPC
                     GHCLIINNVNFCRESGLRTRTGSNIDCEKLRRRFSSLHFMVEVKGDLTAKKMVLALLE
                     LAQQDHGALDCCVVVILSHGCQASHLQFPGAVYGTDGCPVSVEKIVNIFNGTSCPSLG
                     GKPKLFFIQACGGEQKDHGFEVASTSPEDESPGSNPEPDATPFQEGLRTFDQLDAISS
                     LPTPSDIFVSYSTFPGFVSWRDPKSGSWYVETLDDIFEQWAHSEDLQSLLLRVANAVS
                     VKGIYKQMPGCFNFLRKKLFFKTS"
     exon            148..433
                     /gene="CASP9"
                     /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56"
                     /inference="alignment:Splign:2.1.0"
     exon            434..468
                     /gene="CASP9"
                     /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56"
                     /inference="alignment:Splign:2.1.0"
     exon            469..645
                     /gene="CASP9"
                     /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56"
                     /inference="alignment:Splign:2.1.0"
     exon            646..735
                     /gene="CASP9"
                     /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56"
                     /inference="alignment:Splign:2.1.0"
     exon            736..883
                     /gene="CASP9"
                     /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56"
                     /inference="alignment:Splign:2.1.0"
     exon            884..1063
                     /gene="CASP9"
                     /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56"
                     /inference="alignment:Splign:2.1.0"
     exon            1064..1173
                     /gene="CASP9"
                     /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56"
                     /inference="alignment:Splign:2.1.0"
     exon            1174..2808
                     /gene="CASP9"
                     /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1912..1917
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CASP9"
                     /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56"
                     /note="hexamer: AATAAA"
     polyA_site      1934
                     /gene="CASP9"
                     /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56"
                     /note="major polyA site"
     regulatory      2790..2795
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CASP9"
                     /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56"
                     /note="hexamer: AATAAA"
     polyA_site      2808
                     /gene="CASP9"
                     /gene_synonym="APAF-3; APAF3; ICE-LAP6; MCH6; PPP1R56"
ORIGIN      
        1 agttggctac tcgccatgga cgaagcggat cggcggctcc tgcggcggtg ccggctgcgg
       61 ctggtggaag agctgcaggt ggaccagctc tgggacgccc tgctgagccg cgagctgttc
      121 aggccccata tgatcgagga catccagcgg gcaggctctg gatctcggcg ggatcaggcc
      181 aggcagctga tcatagatct ggagactcga gggagtcagg ctcttccttt gttcatctcc
      241 tgcttagagg acacaggcca ggacatgctg gcttcgtttc tgcgaactaa caggcaagca
      301 gcaaagttgt cgaagccaac cctagaaaac cttaccccag tggtgctcag accagagatt
      361 cgcaaaccag aggttctcag accggaaaca cccagaccag tggacattgg ttctggagga
      421 tttggtgatg tcggtgctct tgagagtttg aggggaaatg cagatttggc ttacatcctg
      481 agcatggagc cctgtggcca ctgcctcatt atcaacaatg tgaacttctg ccgtgagtcc
      541 gggctccgca cccgcactgg ctccaacatc gactgtgaga agttgcggcg tcgcttctcc
      601 tcgctgcatt tcatggtgga ggtgaagggc gacctgactg ccaagaaaat ggtgctggct
      661 ttgctggagc tggcgcagca ggaccacggt gctctggact gctgcgtggt ggtcattctc
      721 tctcacggct gtcaggccag ccacctgcag ttcccagggg ctgtctacgg cacagatgga
      781 tgccctgtgt cggtcgagaa gattgtgaac atcttcaatg ggaccagctg ccccagcctg
      841 ggagggaagc ccaagctctt tttcatccag gcctgtggtg gggagcagaa agaccatggg
      901 tttgaggtgg cctccacttc ccctgaagac gagtcccctg gcagtaaccc cgagccagat
      961 gccaccccgt tccaggaagg tttgaggacc ttcgaccagc tggacgccat atctagtttg
     1021 cccacaccca gtgacatctt tgtgtcctac tctactttcc caggttttgt ttcctggagg
     1081 gaccccaaga gtggctcctg gtacgttgag accctggacg acatctttga gcagtgggct
     1141 cactctgaag acctgcagtc cctcctgctt agggtcgcta atgctgtttc ggtgaaaggg
     1201 atttataaac agatgcctgg ttgctttaat ttcctccgga aaaaactttt ctttaaaaca
     1261 tcataaggcc agggcccctc accctgcctt atcttgcacc ccaaagcttt cctgccccag
     1321 gcctgaaaga ggctgaggcc tggactttcc tgcaactcaa ggactttgca gccggcacag
     1381 ggtctgctct ttctctgcca gtgacagaca ggctcttagc agcttccaga ttgacgacaa
     1441 gtgctgaaca gtggaggaag agggacagat gaatgccgtg gattgcacgt ggcctcttga
     1501 gcagtggctg gtccagggct agtgacttgt gtcccatgat ccctgtgttg tctctagagc
     1561 agggattaac ctctgcacta ctgacatgtg gggccaggtc accctttgct gtgaggctgt
     1621 cctgtacatt gtgggatgtt cagcactgtc ccttgcctca atgccagtaa cgcgtcttcc
     1681 tgagtggtgc caaacaaaaa ggttctcagg tgttgccaaa tatgtcctgg ggtataaaac
     1741 tttcctcgcc tgacaaccac tggtctgtag ggatttttgg ctacacacaa accagtatcg
     1801 ctcatagatc agcaaaccgg ggcctactag agtctgaaca gctgtaatct atgaattcta
     1861 agtgaaattt taaaaattgt taatttttcc tatattgcat taattttaaa aaataaatct
     1921 gaggcaaata tggactctct tttgcctatt tcttccctca ttttgctcca actctttctt
     1981 cttccttaca aaagagactt ttgctttttt cgaaacattt ccccatgttt ttctggggtc
     2041 tcgctatgtt gcccaggctg gtctcaaact cctgggctca agtgaccctc ccaagtagct
     2101 cttactacag gcgtgcacca ttgcacccag ccccatttat tcatgtctta tttcacttga
     2161 tccttatccc atcccaggaa ggcaacaagg gtgagaaccc tgtgctcagg gaggttaggt
     2221 ctcttgtcca agggaaaacg attatccaga gaagagacct ggccagaacc tgggtcccct
     2281 gagtcctagc catgcttccc atgtgcctta cttgctgaag cacccccgga ctgcagtgtg
     2341 aacgtgctgt gcaatagtga cacgctgggc ttccccacaa ggctccaccc tgaggtcttt
     2401 taagctgtcc ttatgccagc ctatttcttg ttttttgggc cttttttttt ggagataggg
     2461 tctcactctg tcgcccaggc tggagtgcaa tgacgcaatc ttggcttatt gcagtctcga
     2521 cctcctgggc tcaagagatc cttccacctc agccacctga gtagcttgga ctacaggtgt
     2581 gcaccacctc tcccagttaa tttttgtatt tttagtagag acagagttat gccatgttac
     2641 tcaggctggt cttgaactcc tggactcaag cgatcagcct gccttagcct cccaaagtgc
     2701 aggggttaca ggcttgagcc attgcgcctg acctatttct ggttcttagg gccctggatg
     2761 ttaggatgga tttctgaatt aataataata ataaaaccct catcaaga
//
