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    CASP10 caspase 10 [ Homo sapiens (human) ]

    Gene ID: 843, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CASP10provided by HGNC
    Official Full Name
    caspase 10provided by HGNC
    Primary source
    HGNC:HGNC:1500
    See related
    Ensembl:ENSG00000003400 MIM:601762; AllianceGenome:HGNC:1500
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MCH4; ALPS2; FLICE2; FLICE-2
    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]
    Expression
    Broad expression in duodenum (RPKM 6.6), spleen (RPKM 5.9) and 23 other tissues See more
    Orthologs
    all
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    Genomic context

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    See CASP10 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (201183141..201229406)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (201666595..201712862)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (202047864..202094129)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene CASP8 and FADD like apoptosis regulator Neighboring gene Sharpr-MPRA regulatory region 10379 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:202014382-202015067 Neighboring gene CFLAR antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:202015298-202016497 Neighboring gene RNA, U7 small nuclear 45 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16979 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16980 Neighboring gene RPL38 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16981 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:202084159-202084703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16982 Neighboring gene MT-ND4L pseudogene 13 Neighboring gene MT-ND5 pseudogene 25 Neighboring gene MT-ND4 pseudogene 23 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16984 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16986 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:202122995 Neighboring gene caspase 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16989 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 2:202153225 Neighboring gene flagellum associated containing coiled-coil domains 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:202184683-202185184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:202185185-202185684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16990

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Caspase-10 affects the pathogenesis of primary biliary cholangitis by regulating inflammatory cell death. Cho M, et al. J Autoimmun, 2022 Dec. PMID 36323068
    2. Apoptosis induced by avian H5N1 virus in human monocyte-derived macrophages involves TRAIL-inducing caspase-10 activation. Ekchariyawat P, et al. Innate Immun, 2012 Jun. PMID 21911414
    3. Downregulation of caspase-10 predicting poor survival after resection of stage II colorectal cancer. Shen XG, et al. Int J Colorectal Dis, 2011 Dec. PMID 21559821
    4. Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa. Tadaki H, et al. Int J Immunogenet, 2011 Aug. PMID 21382177
    5. Individual caspase-10 isoforms play distinct and opposing roles in the initiation of death receptor-mediated tumour cell apoptosis. Mühlethaler-Mottet A, et al. Cell Death Dis, 2011 Mar 3. PMID 21368896, Free PMC Article

    See all (149) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome.
      Title: Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome.
    2. Caspase-10 affects the pathogenesis of primary biliary cholangitis by regulating inflammatory cell death.
      Title: Caspase-10 affects the pathogenesis of primary biliary cholangitis by regulating inflammatory cell death.
    3. Relationship Between CASP9 and CASP10 Gene Polymorphisms and Cancer Susceptibility: Evidence from an Updated Meta-analysis.
      Title: Relationship Between CASP9 and CASP10 Gene Polymorphisms and Cancer Susceptibility: Evidence from an Updated Meta-analysis.
    4. Variants in CASP10, a diagnostic challenge: Single center experience and review of the literature.
      Title: Variants in CASP10, a diagnostic challenge: Single center experience and review of the literature.
    5. Long noncoding RNA PVT1 facilitates high glucose-induced cardiomyocyte death through the miR-23a-3p/CASP10 axis.
      Title: Long noncoding RNA PVT1 facilitates high glucose-induced cardiomyocyte death through the miR-23a-3p/CASP10 axis.
    6. caspase-10 suppresses ATP citrate lyase-promoted malignant phenotype. These findings expand the substrate repertoire of caspase-10 and highlight its pivotal role in inhibiting tumorigenesis through metabolic and epigenetic mechanisms.
      Title: Caspase-10 inhibits ATP-citrate lyase-mediated metabolic and epigenetic reprogramming to suppress tumorigenesis.
    7. MicroRNA-421 inhibits caspase-10 expression and promotes breast cancer progression
      Title: MicroRNA-421 inhibits caspase-10 expression and promotes breast cancer progression.
    8. case-control study, including 600 hepatocellular carcinoma (HCC) and 600 HBsAg positive controls without HCC, was conducted to assess the relationship between 11 tagging SNPs in CASP8, CASP10 and CFLAR and HBV-related HCC risk .These results suggest that the CASP8 -652 6N ins/del polymorphism may play a protective role in the development, progression, and survival of HBV-related HCC among the Chinese Han population.
      Title: Genetic variants in cell death pathway genes and HBV-related hepatocellular carcinoma among a Chinese Han population.
    9. Caspase-10 is a negative regulator of cell death and a facilitator of gene induction separates the function of cFLIP and caspase-10 in the death-inducing signaling complex.
      Title: Caspase-10 Negatively Regulates Caspase-8-Mediated Cell Death, Switching the Response to CD95L in Favor of NF-κB Activation and Cell Survival.
    10. caspase-10 was dispensable for enhancement of cisplatin/LA-12 and TRAIL combination-induced cell death and stimulation of Bid cleavage
      Title: Cisplatin or LA-12 enhance killing effects of TRAIL in prostate cancer cells through Bid-dependent stimulation of mitochondrial apoptotic pathway but not caspase-10.
    Submit: New GeneRIF Correction See all GeneRIFs (64)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autoimmune lymphoproliferative syndrome type 2A
    MedGen: C1858968 OMIM: 603909 GeneReviews: Autoimmune Lymphoproliferative Syndrome
    		Compare labs
    Gastric cancer
    MedGen: C0024623 OMIM: 613659 GeneReviews: Not available
    		Compare labs
    Lymphoma, non-Hodgkin, familial
    MedGen: C4721532 OMIM: 605027 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-04-10)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2020-04-10)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cysteine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cysteine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables death effector domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in apoptotic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of neuron apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein maturation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of CD95 death-inducing signaling complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of CD95 death-inducing signaling complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of ripoptosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    caspase-10
    Names
    CASP-10
    FADD-like ICE2
    FAS-associated death domain protein interleukin-1B-converting enzyme 2
    ICE-like apoptotic protease 4
    apoptotic protease MCH-4
    caspase 10 apoptosis-related cysteine peptidase
    caspase 10, apoptosis-related cysteine protease
    interleukin-1B-converting enzyme 2
    NP_001193453.1
    NP_001193471.1
    NP_001221.2
    NP_001293012.1
    NP_116756.2
    NP_116758.1
    NP_116759.2
    XP_005246964.1
    XP_047301972.1
    XP_054200161.1
    XP_054200162.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007265.1 RefSeqGene

      Range
      4750..51275
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_33

    mRNA and Protein(s)

    1. NM_001206524.2 → NP_001193453.1  caspase-10 isoform 6 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks two in-frame coding exons compared to variant 1. This results in a shorter isoform (6) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AC007283, BC042844, DA456072, U60519
      Consensus CDS
      CCDS56159.1
      UniProtKB/Swiss-Prot
      Q92851
      Related
      ENSP00000314599.7, ENST00000313728.12
      Conserved Domains (3) summary
      smart00115
      Location:241 → 447
      CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
      cd08814
      Location:112 → 190
      DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
      cl14633
      Location:18 → 99
      DD; Death Domain Superfamily of protein-protein interaction domains

    2. NM_001206542.2 → NP_001193471.1  caspase-10 isoform 5 preproprotein

      See identical proteins and their annotated locations for NP_001193471.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two in-frame coding exons and contains an alternate 3' terminal exon compared to variant 1. This results in a shorter isoform (5) missing an internal protein segment and with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC007283, AJ487679, BC042844, BX089180, DA456072
      Consensus CDS
      CCDS56160.1
      UniProtKB/Swiss-Prot
      Q92851
      Related
      ENSP00000396835.1, ENST00000448480.1
      Conserved Domains (3) summary
      smart00115
      Location:233 → 474
      CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
      cd08814
      Location:112 → 190
      DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
      cl14633
      Location:18 → 99
      DD; Death Domain Superfamily of protein-protein interaction domains

    3. NM_001230.5 → NP_001221.2  caspase-10 isoform 3 preproprotein

      See identical proteins and their annotated locations for NP_001221.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two in-frame coding exons compared to variant 1. This results in a shorter isoform (3, also known as Mch4 and caspase-10/a) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AC007283, BC042844, DA456072, U60519
      Consensus CDS
      CCDS2339.1
      UniProtKB/TrEMBL
      A0A0S2Z3G5
      Related
      ENSP00000237865.7, ENST00000346817.10
      Conserved Domains (3) summary
      smart00115
      Location:233 → 471
      CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
      cd08814
      Location:112 → 190
      DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
      cl14633
      Location:18 → 99
      DD; Death Domain Superfamily of protein-protein interaction domains

    4. NM_001306083.2 → NP_001293012.1  caspase-10 isoform 7

      See identical proteins and their annotated locations for NP_001293012.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks multiple exons and includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform 7 which is significantly shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK225475, AW190618, BP871945, U60519
      Consensus CDS
      CCDS77506.1
      UniProtKB/TrEMBL
      A0A8Q3WLN0
      Related
      ENSP00000363781.3, ENST00000374650.8
      Conserved Domains (2) summary
      cd08814
      Location:112 → 190
      DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
      cl14633
      Location:18 → 99
      DD; Death Domain Superfamily of protein-protein interaction domains

    5. NM_032974.5 → NP_116756.2  caspase-10 isoform 2 preproprotein

      See identical proteins and their annotated locations for NP_116756.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 3' terminal exon compared to variant 1, and encodes an isoform (2, also known as FLICE2 and caspase-10/b) that has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC007283, BC042844, BX089180, DA456072
      Consensus CDS
      CCDS2338.1
      UniProtKB/Swiss-Prot
      Q68HC0, Q6KF62, Q6KF63, Q8IUP5, Q8WYQ8, Q92851, Q99845, Q9Y2U6, Q9Y2U7
      Related
      ENSP00000272879.5, ENST00000272879.9
      Conserved Domains (3) summary
      smart00115
      Location:276 → 517
      CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
      cd08341
      Location:18 → 99
      DED_Caspase_10_r1; Death effector domain, repeat 1, of Caspase-10
      cd08814
      Location:112 → 190
      DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10

    6. NM_032976.4 → NP_116758.1  caspase-10 isoform 4

      See identical proteins and their annotated locations for NP_116758.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an internal coding exon compared to variant 1. This results in a frame-shift and premature translation termination, rendering this transcript a candidate for nonsense-mediated mRNA decay (NMD). However, the encoded truncated isoform (4, also known as caspase-10/c) is represented, as there is published report (PMID:10187817) that shows that although this isoform lacks proteolytic activity in vitro, it efficiently induces the formation of perinuclear filamentous structures and cell death in vivo.
      Source sequence(s)
      AC007283, BC042844, DA456072, U60519
      UniProtKB/TrEMBL
      A0A8Q3WLN0
      Related
      ENSP00000512459.1, ENST00000492363.6
      Conserved Domains (2) summary
      cd08814
      Location:112 → 190
      DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
      cl14633
      Location:18 → 99
      DD; Death Domain Superfamily of protein-protein interaction domains

    7. NM_032977.4 → NP_116759.2  caspase-10 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_116759.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1, also known as caspase-10/d).
      Source sequence(s)
      AC007283, BC042844, DA456072, U60519
      Consensus CDS
      CCDS2340.1
      UniProtKB/TrEMBL
      A0A0S2Z3Z5
      Related
      ENSP00000286186.6, ENST00000286186.11
      Conserved Domains (3) summary
      smart00115
      Location:276 → 514
      CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
      cd08814
      Location:112 → 190
      DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
      cl14633
      Location:18 → 99
      DD; Death Domain Superfamily of protein-protein interaction domains

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      201183141..201229406
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005246907.3 → XP_005246964.1  caspase-10 isoform X1

      Conserved Domains (3) summary
      smart00115
      Location:275 → 513
      CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
      cd08814
      Location:112 → 190
      DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
      cl14633
      Location:18 → 99
      DD; Death Domain Superfamily of protein-protein interaction domains

    2. XM_047446016.1 → XP_047301972.1  caspase-10 isoform X2

    RNA

    1. XR_923043.3 RNA Sequence

    2. XR_923044.3 RNA Sequence

    3. XR_007082551.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      201666595..201712862
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344186.1 → XP_054200161.1  caspase-10 isoform X1

    2. XM_054344187.1 → XP_054200162.1  caspase-10 isoform X2

    RNA

    1. XR_008486556.1 RNA Sequence

    2. XR_008486557.1 RNA Sequence

    3. XR_008486558.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92851.3 GenPept UniProtKB/Swiss-Prot:Q92851

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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