LOCUS       NM_001372051            2659 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens caspase 8 (CASP8), transcript variant 9, mRNA.
ACCESSION   NM_001372051 XM_005246886
VERSION     NM_001372051.1
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 2659)
  AUTHORS   Hu,S., Wang,F., Mao,L., Jiang,X., Luo,Y., Qin,X., Zou,Z., Chen,C.,
            Yu,C. and Zhang,J.
  TITLE     NBR1-mediated autophagic degradation of caspase 8 protects vascular
            endothelial cells against arsenite-induced apoptotic cell death
  JOURNAL   Biochem Biophys Res Commun 715, 150006 (2024)
   PUBMED   38678786
  REMARK    GeneRIF: NBR1-mediated autophagic degradation of caspase 8 protects
            vascular endothelial cells against arsenite-induced apoptotic cell
            death.
REFERENCE   2  (bases 1 to 2659)
  AUTHORS   Yang,C.Y., Lien,C.I., Tseng,Y.C., Tu,Y.F., Kulczyk,A.W., Lu,Y.C.,
            Wang,Y.T., Su,T.W., Hsu,L.C., Lo,Y.C. and Lin,S.C.
  TITLE     Deciphering DED assembly mechanisms in FADD-procaspase-8-cFLIP
            complexes regulating apoptosis
  JOURNAL   Nat Commun 15 (1), 3791 (2024)
   PUBMED   38710704
  REMARK    GeneRIF: Deciphering DED assembly mechanisms in
            FADD-procaspase-8-cFLIP complexes regulating apoptosis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2659)
  AUTHORS   Pandori,W.J., Matsuno,S.Y., Shin,J.H., Kim,S.C., Kao,T.H.,
            Mallya,S., Batarseh,S.N. and Lodoen,M.B.
  TITLE     Role for Caspase-8 in the Release of IL-1beta and Active Caspase-1
            from Viable Human Monocytes during Toxoplasma gondii Infection
  JOURNAL   J Immunol 212 (7), 1161-1171 (2024)
   PUBMED   38372637
  REMARK    GeneRIF: Role for Caspase-8 in the Release of IL-1beta and Active
            Caspase-1 from Viable Human Monocytes during Toxoplasma gondii
            Infection.
REFERENCE   4  (bases 1 to 2659)
  AUTHORS   Shikholeslami,S.R. and Keshavarzi,F.
  TITLE     Investigation of the association between the CASP8rs1045485 and
            SOD2 rs4880 single nucleotide polymorphisms (SNPs) with breast
            cancer
  JOURNAL   Cancer Treat Res Commun 40, 100835 (2024)
   PUBMED   39038402
  REMARK    GeneRIF: Investigation of the association between the
            CASP8rs1045485 and SOD2 rs4880 single nucleotide polymorphisms
            (SNPs) with breast cancer.
REFERENCE   5  (bases 1 to 2659)
  AUTHORS   Calvo,S.E., Pagliarini,D.J. and Mootha,V.K.
  TITLE     Upstream open reading frames cause widespread reduction of protein
            expression and are polymorphic among humans
  JOURNAL   Proc Natl Acad Sci U S A 106 (18), 7507-7512 (2009)
   PUBMED   19372376
  REMARK    GeneRIF: Includes the study of a polymorphic upstream ORF in this
            gene, and shows that it functions to reduce protein levels by ~31%
REFERENCE   6  (bases 1 to 2659)
  AUTHORS   Breckenridge,D.G., Nguyen,M., Kuppig,S., Reth,M. and Shore,G.C.
  TITLE     The procaspase-8 isoform, procaspase-8L, recruited to the BAP31
            complex at the endoplasmic reticulum
  JOURNAL   Proc Natl Acad Sci U S A 99 (7), 4331-4336 (2002)
   PUBMED   11917123
REFERENCE   7  (bases 1 to 2659)
  AUTHORS   Fernandes-Alnemri,T., Takahashi,A., Armstrong,R., Krebs,J.,
            Fritz,L., Tomaselli,K.J., Wang,L., Yu,Z., Croce,C.M., Salveson,G.
            et al.
  TITLE     Mch3, a novel human apoptotic cysteine protease highly related to
            CPP32
  JOURNAL   Cancer Res 55 (24), 6045-6052 (1995)
   PUBMED   8521391
REFERENCE   8  (bases 1 to 2659)
  AUTHORS   Fernandes-Alnemri,T., Litwack,G. and Alnemri,E.S.
  TITLE     CPP32, a novel human apoptotic protein with homology to
            Caenorhabditis elegans cell death protein Ced-3 and mammalian
            interleukin-1 beta-converting enzyme
  JOURNAL   J Biol Chem 269 (49), 30761-30764 (1994)
   PUBMED   7983002
REFERENCE   9  (bases 1 to 2659)
  AUTHORS   DuBridge,R.B., Tang,P., Hsia,H.C., Leong,P.M., Miller,J.H. and
            Calos,M.P.
  TITLE     Analysis of mutation in human cells by using an Epstein-Barr virus
            shuttle system
  JOURNAL   Mol Cell Biol 7 (1), 379-387 (1987)
   PUBMED   3031469
REFERENCE   10 (bases 1 to 2659)
  AUTHORS   Clements,G.B., Klein,G. and Povey,S.
  TITLE     Production by EBV infection of an EBNA-positive subline from an
            EBNA-negative human lymphoma cell line without detectable EBV DNA
  JOURNAL   Int J Cancer 16 (1), 125-133 (1975)
   PUBMED   170210
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007256.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 5, 2019 this sequence version replaced XM_005246886.2.
            
            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 composed of a prodomain, a large
            protease subunit, and a small protease subunit. Activation of
            caspases requires proteolytic processing at conserved internal
            aspartic residues to generate a heterodimeric enzyme consisting of
            the large and small subunits. This protein is involved in the
            programmed cell death induced by Fas and various apoptotic stimuli.
            The N-terminal FADD-like death effector domain of this protein
            suggests that it may interact with Fas-interacting protein FADD.
            This protein was detected in the insoluble fraction of the affected
            brain region from Huntington disease patients but not in those from
            normal controls, which implicated the role in neurodegenerative
            diseases. Many alternatively spliced transcript variants encoding
            different isoforms have been described, although not all variants
            have had their full-length sequences determined. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            CCDS Note: This CCDS representation is based on AF422928.1 and
            U58143.1, and on data in PMID:11917123. This 479 aa isoform is also
            supported by homologous proteins, including pig NP_001026949.1, cow
            NP_001039435.1, mouse NP_033942.1, rat NP_071613.1 and chicken
            NP_989923.1. In addition, macaque AB172864.1 supports the
            full-length splice pattern.
            
            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 :: SRR14038196.3132900.1,
                                           SRR14038193.1360128.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000673742.1/ ENSP00000501268.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-78                AC007256.5         156857-156934       c
            79-409              AC007256.5         150679-151009       c
            410-515             AC007256.5         145849-145954       c
            516-654             AC007256.5         144694-144832       c
            655-699             AC007256.5         144528-144572       c
            700-764             AC007256.5         142517-142581       c
            765-906             AC007256.5         140502-140643       c
            907-1408            AC007256.5         132153-132654       c
            1409-2659           AC007256.5         129761-131011       c
FEATURES             Location/Qualifiers
     source          1..2659
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.1"
     gene            1..2659
                     /gene="CASP8"
                     /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
                     /note="caspase 8"
                     /db_xref="GeneID:841"
                     /db_xref="HGNC:HGNC:1509"
                     /db_xref="MIM:601763"
     exon            1..78
                     /gene="CASP8"
                     /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
                     /inference="alignment:Splign:2.1.0"
     exon            79..409
                     /gene="CASP8"
                     /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
                     /inference="alignment:Splign:2.1.0"
     CDS             105..1544
                     /gene="CASP8"
                     /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
                     /EC_number="3.4.22.61"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 9; caspase 8, apoptosis-related cysteine protease;
                     FADD-homologous ICE/CED-3-like protease; MACH-alpha-1/2/3
                     protein; MACH-beta-1/2/3/4 protein; FADD-like ICE;
                     apoptotic protease Mch-5; apoptotic cysteine protease;
                     caspase 8, apoptosis-related cysteine peptidase; ICE-like
                     apoptotic protease 5; MORT1-associated ced-3 homolog"
                     /codon_start=1
                     /product="caspase-8 isoform 2 precursor"
                     /protein_id="NP_001358980.1"
                     /db_xref="CCDS:CCDS2342.1"
                     /db_xref="GeneID:841"
                     /db_xref="HGNC:HGNC:1509"
                     /db_xref="MIM:601763"
                     /translation="MDFSRNLYDIGEQLDSEDLASLKFLSLDYIPQRKQEPIKDALML
                     FQRLQEKRMLEESNLSFLKELLFRINRLDLLITYLNTRKEEMERELQTPGRAQISAYR
                     VMLYQISEEVSRSELRSFKFLLQEEISKCKLDDDMNLLDIFIEMEKRVILGEGKLDIL
                     KRVCAQINKSLLKIINDYEEFSKERSSSLEGSPDEFSNGEELCGVMTISDSPREQDSE
                     SQTLDKVYQMKSKPRGYCLIINNHNFAKAREKVPKLHSIRDRNGTHLDAGALTTTFEE
                     LHFEIKPHDDCTVEQIYEILKIYQLMDHSNMDCFICCILSHGDKGIIYGTDGQEAPIY
                     ELTSQFTGLKCPSLAGKPKVFFIQACQGDNYQKGIPVETDSEEQPYLEMDLSSPQTRY
                     IPDEADFLLGMATVNNCVSYRNPAEGTWYIQSLCQSLRERCPRGDDILTILTEVNYEV
                     SNKDDKKNMGKQMPQPTFTLRKKLVFPSD"
     exon            410..515
                     /gene="CASP8"
                     /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
                     /inference="alignment:Splign:2.1.0"
     exon            516..654
                     /gene="CASP8"
                     /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
                     /inference="alignment:Splign:2.1.0"
     exon            655..699
                     /gene="CASP8"
                     /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
                     /inference="alignment:Splign:2.1.0"
     exon            700..764
                     /gene="CASP8"
                     /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
                     /inference="alignment:Splign:2.1.0"
     exon            765..906
                     /gene="CASP8"
                     /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
                     /inference="alignment:Splign:2.1.0"
     exon            907..1408
                     /gene="CASP8"
                     /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
                     /inference="alignment:Splign:2.1.0"
     exon            1409..2659
                     /gene="CASP8"
                     /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2638..2643
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CASP8"
                     /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
                     /note="hexamer: AATAAA"
     polyA_site      2659
                     /gene="CASP8"
                     /gene_synonym="ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5"
                     /note="major polyA site"
ORIGIN      
        1 agacgtttgc tcttgtctta gatgctcaga tggtagtgga taggcctgtg acgaaggtgc
       61 taccatcgtg agagtaagat tatattctcc tgccttttaa aaagatggac ttcagcagaa
      121 atctttatga tattggggaa caactggaca gtgaagatct ggcctccctc aagttcctga
      181 gcctggacta cattccgcaa aggaagcaag aacccatcaa ggatgccttg atgttattcc
      241 agagactcca ggaaaagaga atgttggagg aaagcaatct gtccttcctg aaggagctgc
      301 tcttccgaat taatagactg gatttgctga ttacctacct aaacactaga aaggaggaga
      361 tggaaaggga acttcagaca ccaggcaggg ctcaaatttc tgcctacagg gtcatgctct
      421 atcagatttc agaagaagtg agcagatcag aattgaggtc ttttaagttt cttttgcaag
      481 aggaaatctc caaatgcaaa ctggatgatg acatgaacct gctggatatt ttcatagaga
      541 tggagaagag ggtcatcctg ggagaaggaa agttggacat cctgaaaaga gtctgtgccc
      601 aaatcaacaa gagcctgctg aagataatca acgactatga agaattcagc aaagagagaa
      661 gcagcagcct tgaaggaagt cctgatgaat tttcaaatgg ggaggagttg tgtggggtaa
      721 tgacaatctc ggactctcca agagaacagg atagtgaatc acagactttg gacaaagttt
      781 accaaatgaa aagcaaacct cggggatact gtctgatcat caacaatcac aattttgcaa
      841 aagcacggga gaaagtgccc aaacttcaca gcattaggga caggaatgga acacacttgg
      901 atgcaggggc tttgaccacg acctttgaag agcttcattt tgagatcaag ccccacgatg
      961 actgcacagt agagcaaatc tatgagattt tgaaaatcta ccaactcatg gaccacagta
     1021 acatggactg cttcatctgc tgtatcctct cccatggaga caagggcatc atctatggca
     1081 ctgatggaca ggaggccccc atctatgagc tgacatctca gttcactggt ttgaagtgcc
     1141 cttcccttgc tggaaaaccc aaagtgtttt ttattcaggc ttgtcagggg gataactacc
     1201 agaaaggtat acctgttgag actgattcag aggagcaacc ctatttagaa atggatttat
     1261 catcacctca aacgagatat atcccggatg aggctgactt tctgctgggg atggccactg
     1321 tgaataactg tgtttcctac cgaaaccctg cagagggaac ctggtacatc cagtcacttt
     1381 gccagagcct gagagagcga tgtcctcgag gcgatgatat tctcaccatc ctgactgaag
     1441 tgaactatga agtaagcaac aaggatgaca agaaaaacat ggggaaacag atgcctcagc
     1501 ctactttcac actaagaaaa aaacttgtct tcccttctga ttgatggtgc tattttgttt
     1561 gttttgtttt gttttgtttt tttgagacag aatctcgctc tgtcgcccag gctggagtgc
     1621 agtggcgtga tctcggctca ccgcaagctc cgcctcccgg gttcaggcca ttctcctgcc
     1681 tcagcctccc gagtagctgg gactacaggg gcccgccacc acacctggct aattttttaa
     1741 aaatattttt agtagagaca gggtttcact gtgttagcca gggtggtctt gatctcctga
     1801 cctcgtgatc cacccacctc ggcctcccaa agtgctggga ttacaggcgt gagccaccgc
     1861 gcctggccga tggtactatt tagatataac actatgttta tttactaatt ttctagattt
     1921 tctactttat taattgtttt gcactttttt ataagagcta aagttaaata ggatattaac
     1981 aacaataaca ctgtctcctt tctcttatgc ttaaggcttt gggaatgttt ttagctggtg
     2041 gcaataaata ccagacacgt acaaaatcca gctatgaata tagagggctt atgattcaga
     2101 ttgttatcta tcaactataa gcccactgtt aatattctat taactttaat tctctttcaa
     2161 agctaaattc cacactacca cattaaaaaa attagaaagt agccacgtat ggtggctcat
     2221 gtctataatc ccagcacttt gggaggttga ggtgggagga ttgcttgaac ccaagaggtc
     2281 aaggctgcag tgagccatgt tcacaccgct gcactcaagc ttgggtgaca gaacaagacc
     2341 ccgtctcaaa aaaaattttt tttttaataa aacaaaattt gtttgaaatc ttttaaaaat
     2401 tcaaatgatt tttacaagtt ttaaataagc tctccccaaa cttgctttat gccttcttat
     2461 tgcttttatg atatatatat gcttggctaa ctatatttgc tttttgctaa caatgctctg
     2521 gggtcttttt atgcatttgc atttgctctt tcatctctgc ttggattatt ttaaatcatt
     2581 aggaattaag ttatctttaa aatttaagta tcttttttca aaaacatttt ttaatagaat
     2641 aaaatataat ttgatctta
//
