LOCUS       NM_032977               5668 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens caspase 10 (CASP10), transcript variant 1, mRNA.
ACCESSION   NM_032977
VERSION     NM_032977.4
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 5668)
  AUTHORS   Consonni,F., Moreno,S., Vinuales Colell,B., Stolzenberg,M.C.,
            Fernandes,A., Parisot,M., Masson,C., Neveux,N., Rosain,J.,
            Bamberger,S., Vigue,M.G., Malphettes,M., Quartier,P., Picard,C.,
            Rieux-Laucat,F. and Magerus,A.
  TITLE     Study of the potential role of CASPASE-10 mutations in the
            development of autoimmune lymphoproliferative syndrome
  JOURNAL   Cell Death Dis 15 (5), 315 (2024)
   PUBMED   38704374
  REMARK    GeneRIF: Study of the potential role of CASPASE-10 mutations in the
            development of autoimmune lymphoproliferative syndrome.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5668)
  AUTHORS   Cho,M., Dho,S.H., Shin,S., Lee,Y., Kim,Y., Lee,J., Yu,S.J.,
            Park,S.H., Lee,K.A. and Kim,L.K.
  TITLE     Caspase-10 affects the pathogenesis of primary biliary cholangitis
            by regulating inflammatory cell death
  JOURNAL   J Autoimmun 133, 102940 (2022)
   PUBMED   36323068
  REMARK    GeneRIF: Caspase-10 affects the pathogenesis of primary biliary
            cholangitis by regulating inflammatory cell death.
REFERENCE   3  (bases 1 to 5668)
  AUTHORS   Sargazi,S., Abghari,A.Z., Sarani,H., Sheervalilou,R., Mirinejad,S.,
            Saravani,R. and Eskandari,E.
  TITLE     Relationship Between CASP9 and CASP10 Gene Polymorphisms and Cancer
            Susceptibility: Evidence from an Updated Meta-analysis
  JOURNAL   Appl Biochem Biotechnol 193 (12), 4172-4196 (2021)
   PUBMED   34463927
  REMARK    GeneRIF: Relationship Between CASP9 and CASP10 Gene Polymorphisms
            and Cancer Susceptibility: Evidence from an Updated Meta-analysis.
            Erratum:[Appl Biochem Biotechnol. 2022 Feb;194(2):1025. doi:
            10.1007/s12010-021-03647-0.. PMID: 34529231]
REFERENCE   4  (bases 1 to 5668)
  AUTHORS   Matas Perez,E., Valdivieso Shephard,J.L., Bravo Garcia-Morato,M.,
            Robles Marhuenda,A., Martinez-Ojinaga Nodal,E., Prieto Bozano,G.,
            Gonzalez Casado,I., Salamanca Fresno,L., Mendez Echevarria,A., Del
            Rosal Rabes,T., Allende Martinez,L., Lopez-Granados,E. and
            Rodriguez Pena,R.
  TITLE     Variants in CASP10, a diagnostic challenge: Single center
            experience and review of the literature
  JOURNAL   Clin Immunol 230, 108812 (2021)
   PUBMED   34329798
  REMARK    GeneRIF: Variants in CASP10, a diagnostic challenge: Single center
            experience and review of the literature.
            Review article
REFERENCE   5  (bases 1 to 5668)
  AUTHORS   Ng,P.W., Porter,A.G. and Janicke,R.U.
  TITLE     Molecular cloning and characterization of two novel pro-apoptotic
            isoforms of caspase-10
  JOURNAL   J Biol Chem 274 (15), 10301-10308 (1999)
   PUBMED   10187817
REFERENCE   6  (bases 1 to 5668)
  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   7  (bases 1 to 5668)
  AUTHORS   Bleesing,J.J.H., Nagaraj,C.B. and Zhang,K.
  TITLE     Autoimmune Lymphoproliferative Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301287
REFERENCE   8  (bases 1 to 5668)
  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   9  (bases 1 to 5668)
  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
REFERENCE   10 (bases 1 to 5668)
  AUTHORS   Baumann,K., de Rouffignac,C., Roinel,N., Rumrich,G. and
            Ullrich,K.J.
  TITLE     Renal phosphate transport: inhomogeneity of local proximal
            transport rates and sodium dependence
  JOURNAL   Pflugers Arch 356 (4), 287-298 (1975)
   PUBMED   1171445
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA456072.1, BC042844.1,
            AC007283.3 and U60519.1.
            
            On Aug 31, 2019 this sequence version replaced NM_032977.3.
            
            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 two subunits, large and small, that dimerize to form the
            active enzyme. This protein cleaves and activates caspases 3 and 7,
            and the protein itself is processed by caspase 8. Mutations in this
            gene are associated with type IIA autoimmune lymphoproliferative
            syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively
            spliced transcript variants encoding different isoforms have been
            described for this gene. [provided by RefSeq, Apr 2011].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1, also known as caspase-10/d).
            
            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 :: SRR14038191.3335267.1,
                                           SRR18074969.102996.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000286186.11/ ENSP00000286186.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-302               DA456072.1         262-563
            303-1947            BC042844.1         282-1926
            1948-2410           AC007283.3         18113-18575         c
            2411-4083           U60519.1           1864-3536
            4084-5668           AC007283.3         14855-16439         c
FEATURES             Location/Qualifiers
     source          1..5668
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.1"
     gene            1..5668
                     /gene="CASP10"
                     /gene_synonym="ALPS2; FLICE-2; FLICE2; MCH4"
                     /note="caspase 10"
                     /db_xref="GeneID:843"
                     /db_xref="HGNC:HGNC:1500"
                     /db_xref="MIM:601762"
     exon            1..168
                     /gene="CASP10"
                     /gene_synonym="ALPS2; FLICE-2; FLICE2; MCH4"
                     /inference="alignment:Splign:2.1.0"
     exon            169..522
                     /gene="CASP10"
                     /gene_synonym="ALPS2; FLICE-2; FLICE2; MCH4"
                     /inference="alignment:Splign:2.1.0"
     CDS             176..1744
                     /gene="CASP10"
                     /gene_synonym="ALPS2; FLICE-2; FLICE2; MCH4"
                     /EC_number="3.4.22.63"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; caspase 10, apoptosis-related cysteine
                     protease; FADD-like ICE2; apoptotic protease MCH-4;
                     ICE-like apoptotic protease 4; interleukin-1B-converting
                     enzyme 2; CASP-10; FAS-associated death domain protein
                     interleukin-1B-converting enzyme 2; caspase 10
                     apoptosis-related cysteine peptidase"
                     /codon_start=1
                     /product="caspase-10 isoform 1 preproprotein"
                     /protein_id="NP_116759.2"
                     /db_xref="CCDS:CCDS2340.1"
                     /db_xref="GeneID:843"
                     /db_xref="HGNC:HGNC:1500"
                     /db_xref="MIM:601762"
                     /translation="MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCI
                     GLVPNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLAELLYIIRQKKLLQHLNCTKEEV
                     ERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQG
                     KIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQT
                     DVKTFLEALPQESWQNKHAGSNGNRATNGAPSLVSRGMQGASANTLNSETSTKRAAVY
                     RMNRNHRGLCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEM
                     VLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPIREIMSHFTALQCPRLAEK
                     PKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFR
                     HVEEGSWYIQSLCNHLKKLVPRHEDILSILTAVNDDVSRRVDKQGTKKQMPQPAFTLR
                     KKLVFPVPLDALSL"
     exon            523..616
                     /gene="CASP10"
                     /gene_synonym="ALPS2; FLICE-2; FLICE2; MCH4"
                     /inference="alignment:Splign:2.1.0"
     exon            617..752
                     /gene="CASP10"
                     /gene_synonym="ALPS2; FLICE-2; FLICE2; MCH4"
                     /inference="alignment:Splign:2.1.0"
     exon            753..859
                     /gene="CASP10"
                     /gene_synonym="ALPS2; FLICE-2; FLICE2; MCH4"
                     /inference="alignment:Splign:2.1.0"
     exon            860..896
                     /gene="CASP10"
                     /gene_synonym="ALPS2; FLICE-2; FLICE2; MCH4"
                     /inference="alignment:Splign:2.1.0"
     exon            897..988
                     /gene="CASP10"
                     /gene_synonym="ALPS2; FLICE-2; FLICE2; MCH4"
                     /inference="alignment:Splign:2.1.0"
     exon            989..1097
                     /gene="CASP10"
                     /gene_synonym="ALPS2; FLICE-2; FLICE2; MCH4"
                     /inference="alignment:Splign:2.1.0"
     exon            1098..1590
                     /gene="CASP10"
                     /gene_synonym="ALPS2; FLICE-2; FLICE2; MCH4"
                     /inference="alignment:Splign:2.1.0"
     exon            1591..5668
                     /gene="CASP10"
                     /gene_synonym="ALPS2; FLICE-2; FLICE2; MCH4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4679..4684
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CASP10"
                     /gene_synonym="ALPS2; FLICE-2; FLICE2; MCH4"
                     /note="hexamer: AATAAA"
     polyA_site      4713
                     /gene="CASP10"
                     /gene_synonym="ALPS2; FLICE-2; FLICE2; MCH4"
                     /note="major polyA site"
     regulatory      5642..5647
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CASP10"
                     /gene_synonym="ALPS2; FLICE-2; FLICE2; MCH4"
                     /note="hexamer: ATTAAA"
     polyA_site      5668
                     /gene="CASP10"
                     /gene_synonym="ALPS2; FLICE-2; FLICE2; MCH4"
                     /note="major polyA site"
ORIGIN      
        1 agttttcact taaacaacca gcaagtcttg aagtctcttc ccaagcaaat gggagcttct
       61 ttggaccttg gagcacacag aggattctac tttctttaaa actttgtttt caggcaattt
      121 ccctgagaac cgtttacttc cagaagattg gtggagcttg atctgaaggc tggccatgaa
      181 atctcaaggt caacattggt attccagttc agataaaaac tgtaaagtga gctttcgtga
      241 gaagcttctg attattgatt caaacctggg ggtccaagat gtggagaacc tcaagtttct
      301 ctgcatagga ttggtcccca acaagaagct ggagaagtcc agctcagcct cagatgtttt
      361 tgaacatctc ttggcagagg atctgctgag tgaggaagac cctttcttcc tggcagaact
      421 cctctatatc atacggcaga agaagctgct gcagcacctc aactgtacca aagaggaagt
      481 ggagcgactg ctgcccaccc gacaaagggt ttctctgttt agaaacctgc tctacgaact
      541 gtcagaaggc attgactcag agaacttaaa ggacatgatc ttccttctga aagactcgct
      601 tcccaaaact gaaatgacct ccctaagttt cctggcattt ctagagaaac aaggtaaaat
      661 agatgaagat aatctgacat gcctggagga cctctgcaaa acagttgtac ctaaactttt
      721 gagaaacata gagaaataca aaagagagaa agctatccag atagtgacac ctcctgtaga
      781 caaggaagcc gagtcgtatc aaggagagga agaactagtt tcccaaacag atgttaagac
      841 attcttggaa gccttaccgc aggagtcctg gcaaaataag catgcaggta gtaatggtaa
      901 cagagccaca aatggtgcac caagcctggt ctccaggggg atgcaaggag catctgctaa
      961 cactctaaac tctgaaacca gcacaaagag ggcagctgtg tacaggatga atcggaacca
     1021 cagaggcctc tgtgtcattg tcaacaacca cagctttacc tccctgaagg acagacaagg
     1081 aacccataaa gatgctgaga tcctgagtca tgtgttccag tggcttgggt tcacagtgca
     1141 tatacacaat aatgtgacga aagtggaaat ggagatggtc ctgcagaagc agaagtgcaa
     1201 tccagcccat gccgacgggg actgcttcgt gttctgtatt ctgacccatg ggagatttgg
     1261 agctgtctac tcttcggatg aggccctcat tcccattcgg gagatcatgt ctcacttcac
     1321 agccctgcag tgccctagac tggctgaaaa acctaaactc tttttcatcc aggcctgcca
     1381 aggtgaagag atacagcctt ccgtatccat cgaagcagat gctctgaacc ctgagcaggc
     1441 acccacttcc ctgcaggaca gtattcctgc cgaggctgac ttcctacttg gtctggccac
     1501 tgtcccaggc tatgtatcct ttcggcatgt ggaggaaggc agctggtata ttcagtctct
     1561 gtgtaatcat ctgaagaaat tggtcccaag acatgaagac atcttatcca tcctcactgc
     1621 tgtcaacgat gatgtgagtc gaagagtgga caaacaggga acaaagaaac agatgcccca
     1681 gcctgctttc acactaagga aaaaactagt attccctgtg cccctggatg cactttcatt
     1741 atagcagaga gtttttgttg gttcttagac ctcaaacgaa tcattggcta taacctccag
     1801 cctcctgccc agcacaggaa tcggtggtct ccacctgtca ttctagaaac aggaaacacc
     1861 gtgttttctg acacagtcaa ttctgatttt ctttttcttt tgcaagtcta aatgttagaa
     1921 aactttcttt tttttggaga tagtctcatt ctgtcaccca gactggagtg caggggggca
     1981 atcacggctc actgtagtct cgacctccca ggctcaagct gtcctcccgc ctcagcttcc
     2041 caagtagctg ggaccacagg tgtgtaccac cgtgcccgga ttttttttat tctttatttt
     2101 ttgtagagat ggagggatct cactttgttg cacaggctgg tttcaaactc ctaggcccaa
     2161 gtgatcctcc cacctctgtc cccaaaatac tgggattata ggcacgagcc accacacctg
     2221 gccagaaaac tttcattatt gaagacttgg attgtagcct tggttttgga tgtctattct
     2281 gaagacagag taattggctt tggtttgtgc aggtactttt tctttgagac agagtcactc
     2341 cgtcacctgg gctggagtgc agtggtggga tcactgttca ctgcagcctt gacctcccag
     2401 gttcaagcga tcctcccacc tcagcctccc aagtagctga gactacaggt gtgtgtccat
     2461 gcacagctaa ctttttattt tttttgtgga gatggggttt cactatgttg cctaagctgg
     2521 tctcaaactc ctgggctcaa gcgatcctcc cacctcagct tctcaaagtt ctgggactac
     2581 aggcatgaaa tactgtgcct ggcctgggga ccaggtgcat tttaaggttc cttggtgttc
     2641 aaaaaccacg ttcttagcct agattgagct tagattgcct ctctagacaa ctacccctta
     2701 gttataattc tgtgtcccct ctgcatgccc ttaaacattg gacagtgagg tcacagtcca
     2761 cccaccctct ctctgatctc ccccttccta agacttctct tttgcacatc tagtgaggtg
     2821 aaaatttggt ctatgccagg cccatttcct gcttttgtgt aaggaaggtg ctcacatagg
     2881 aagtttttat ttggttagag acaggtttcc ctgtaggaag atgatggctc atttacactc
     2941 agctgctctg caagcagaaa ctttacaacc tgatgtcata ttccattttg gactgggtgc
     3001 ggtgactcat gcctgtaatc ccagtactct gggaagccaa ggcaggcaga tcacttgagg
     3061 tcaggagttc gagaccagcc tggccaatac ggcaaaacct catcattact aaaaacacaa
     3121 aaattagcca ggtgtggcgg cgagcacctg taatcccagc tactcgggag gctgagacag
     3181 gagaatctct tgaatccagg aggcagaggc tgtggtgagc caagatgaca caactgcact
     3241 ccagcttggg caacagggcg agaccttgtt taaaaaaaaa attcaatatt ggggttggaa
     3301 catttcagtt gccattgaca gaacacccaa ttcaaattga ctgaagcaaa gaagggaatt
     3361 tattgcctct ttcacattga aacccaggag tggataacac tggcttcagg caaagcttga
     3421 atcaggactc aatctacagg ccagcacctt tctcttggcc ggatgtcctc agggctggca
     3481 gatgcagtag actgcagtgg acagtcccca ccttgttact gctactacac tttgctcctc
     3541 tggcccaagg catgaggaga gaggctgtgt cagaaactga agctgttctc aggatcactg
     3601 ggctcttctt ggcagagggg atgtctggct tgcctgaagg gagtggctct gtaaggacgc
     3661 cttgatgctt tcttcattaa gattttgagc atttttacgt acttgagctt tttttttttt
     3721 ttttttcaat ttctagagga actttttctc tgttaattcc tggaactgta ttttgaatcc
     3781 ttaaaggtga gccctcatag ggagatccaa agtcctgtgg ttaacgcctt catttataga
     3841 tgaggcagct gaggcctggg gatgtgaaca acctgctcac agtcctcatt tactggattt
     3901 gacttcagcc aggtgaactg gaatgccttg gggcgtggaa gggcattagg agtgtttcat
     3961 ttgatatgtg aatgctcata aaaaaatgtc aaggaatgaa gaacaacaac tctcagtggt
     4021 gcctgcattt ataattattt atgtgaaagt caaattcatg tacagtaaat ttgttataag
     4081 aatattcaca agaacactgt tctgatatct ctgattgtca tgtggatttg aatgtagctt
     4141 gacagaggga atgtctaatc tatattgaca gggcaggaac accgtcatct tagacaaaca
     4201 ccgccacttt aagttccagt tccctttcta gcctcatgca tttcaaggaa atcacttctt
     4261 ttctaacagc gagcagccag aaagagaaga gagtaaaata cagataagac agctctggca
     4321 tagagggagg tgggggggtg ggggaagtct cttgggtaac tgccaaactt tgccttcata
     4381 caatgggttc caggaaaaca atgagcctta ataagcacat tcctttccct tcaggtgcac
     4441 taagtgggga agctaaaagc agactggagg ggggtggggt gtacctacag ctgcagaaat
     4501 attgtatggg aacggacaca caactctccc tcccagataa gcacagcaaa gagacataga
     4561 agcaatccaa gcctctgata aactctccca ccctaaatcc ttaaaaactc ttagtctgta
     4621 agtgagtggg ctctgaccta actcggccag aagccccttt caaatttgtt ttctctaaaa
     4681 taaacctgtc cttggctgtc aagccacctt tcatgtttct ttcctctttc tttaattctt
     4741 acacatgtgt caggatgatc tcccaaaacc gtgttcataa cagtcagggc caaaagctag
     4801 tggtcacagt ccttgtccag ttggcagaac tgacatgtga aggcaagtga aggatggtga
     4861 gatactgagg aaagagcaaa ggatctggag atcaaagccc tgcatttcca ttttgtcctg
     4921 attcctttgc tcagagacac taactaaatc aagctagctt ttttcagcct tgtctgtaaa
     4981 gtagagaaaa cattagctgt tgggaagacg aaaaagaatg tgtcctatgt gtgcatctat
     5041 ttaaatctaa ctgtgctgag gtgcatataa atgcctttag gtggtagggt cttccggttg
     5101 taactgcaac agaaatagca ggacttaagt tcctttgtgc gtaattccag ctgactttat
     5161 tagcggcaac tcagcactag cattacccct gacatactct gagtaagatc taattcttcc
     5221 ctcactggtt cgtgatgtct accgcagcag aaggccagct cttgactctg agttcagttg
     5281 gacaaaatgc tgttgataaa acctcctgtc aggcctctga gcccaagcta agccatcata
     5341 tcccttgtga cctgcacata tatatccaga tggcctgaag taactgaaga atcacaaaag
     5401 aagtgaaaat ggcctgttcc tgccttaact gatgacatta ccttgtgaaa ttccttctcc
     5461 tggctcatcc tggctcaaaa gctcccccag tgagcacctt gtgaccccca tccctgccag
     5521 ccagagaaca accccctttg actgtaattt tccactactt acccaaatcc tataaaacgg
     5581 ccccacccct atctcccttc actgactttc ttttcggact cagcccacct gcacccaggt
     5641 gattaaaaag ctttattgct cacacaaa
//
