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    CASP10 caspase 10 [ Homo sapiens (human) ]

    Gene ID: 843, updated on 8-Jul-2021

    Summary

    Official Symbol
    CASP10provided by HGNC
    Official Full Name
    caspase 10provided by HGNC
    Primary source
    HGNC:HGNC:1500
    See related
    Ensembl:ENSG00000003400 MIM:601762
    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
    NEW
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    Genomic context

    See CASP10 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (201182885..201229406)
    105.20201022 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 CFLAR antisense RNA 1 Neighboring gene RNA, U7 small nuclear 45 pseudogene Neighboring gene RPL38 pseudogene 5 Neighboring gene MT-ND4L pseudogene 13 Neighboring gene MT-ND5 pseudogene 25 Neighboring gene MT-ND4 pseudogene 23 Neighboring gene caspase 8 Neighboring gene flagellum associated containing coiled-coil domains 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Autoimmune lymphoproliferative syndrome, type 2A Compare labs
    Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
    GeneReviews: Not available
    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in execution phase of apoptosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of I-kappaB kinase/NF-kappaB signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    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
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of ripoptosome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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_006712859.1
    XP_011510292.1

    NCBI Reference Sequences (RefSeq)

    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_001206524.2NP_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, ENST00000313728.11
      Conserved Domains (3) summary
      smart00115
      Location:241447
      CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
      cd08814
      Location:112190
      DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
      cl14633
      Location:1899
      DD; Death Domain Superfamily of protein-protein interaction domains
    2. NM_001206542.2NP_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:233474
      CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
      cd08814
      Location:112190
      DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
      cl14633
      Location:1899
      DD; Death Domain Superfamily of protein-protein interaction domains
    3. NM_001230.5NP_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/Swiss-Prot
      Q92851
      UniProtKB/TrEMBL
      A0A0S2Z3G5
      Related
      ENSP00000237865.7, ENST00000346817.9
      Conserved Domains (3) summary
      smart00115
      Location:233471
      CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
      cd08814
      Location:112190
      DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
      cl14633
      Location:1899
      DD; Death Domain Superfamily of protein-protein interaction domains
    4. NM_001306083.2NP_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/Swiss-Prot
      Q92851
      Related
      ENSP00000363781.3, ENST00000374650.7
      Conserved Domains (2) summary
      cd08814
      Location:112190
      DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
      cl14633
      Location:1899
      DD; Death Domain Superfamily of protein-protein interaction domains
    5. NM_032974.5NP_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
      Q92851
      Related
      ENSP00000272879.5, ENST00000272879.9
      Conserved Domains (3) summary
      smart00115
      Location:276517
      CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
      cd08341
      Location:1899
      DED_Caspase_10_r1; Death effector domain, repeat 1, of Caspase-10
      cd08814
      Location:112190
      DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
    6. NM_032976.4NP_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/Swiss-Prot
      Q92851
      Related
      ENSP00000353250.3, ENST00000360132.7
      Conserved Domains (2) summary
      cd08814
      Location:112190
      DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
      cl14633
      Location:1899
      DD; Death Domain Superfamily of protein-protein interaction domains
    7. NM_032977.4NP_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/Swiss-Prot
      Q92851
      UniProtKB/TrEMBL
      A0A0S2Z3Z5
      Related
      ENSP00000286186.6, ENST00000286186.11
      Conserved Domains (3) summary
      smart00115
      Location:276514
      CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
      cd08814
      Location:112190
      DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
      cl14633
      Location:1899
      DD; Death Domain Superfamily of protein-protein interaction domains

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      201182885..201229406
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006712796.3XP_006712859.1  caspase-10 isoform X2

      Conserved Domains (1) summary
      smart00115
      Location:26264
      CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
    2. XM_005246907.2XP_005246964.1  caspase-10 isoform X1

      Conserved Domains (3) summary
      smart00115
      Location:275513
      CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
      cd08814
      Location:112190
      DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
      cl14633
      Location:1899
      DD; Death Domain Superfamily of protein-protein interaction domains
    3. XM_011511990.2XP_011510292.1  caspase-10 isoform X3

      Conserved Domains (2) summary
      cd08814
      Location:112190
      DED_Caspase_10_r2; Death Effector Domain, repeat 2, of Caspase-10
      cl14633
      Location:1899
      DD; Death Domain Superfamily of protein-protein interaction domains

    RNA

    1. XR_923043.2 RNA Sequence

    2. XR_923044.2 RNA Sequence

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