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CASP10 caspase 10 [ Homo sapiens (human) ]

Gene ID: 843, updated on 3-Jun-2018
Official Symbol
CASP10provided by HGNC
Official Full Name
caspase 10provided by HGNC
Primary source
HGNC:HGNC:1500
See related
Ensembl:ENSG00000003400 MIM:601762; Vega:OTTHUMG00000132818
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
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
See CASP10 in Genome Data Viewer
Location:
2q33.1
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (201182881..201229406)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (202047621..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 ribosomal protein L38 pseudogene Neighboring gene MT-ND4L pseudogene 13 Neighboring gene MT-ND5 pseudogene 25 Neighboring gene MT-ND4 pseudogene 23 Neighboring gene caspase 8 Neighboring gene amyotrophic lateral sclerosis 2 chromosome region 12

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Autoimmune lymphoproliferative syndrome, type 2A Compare labs
Malignant lymphoma, non-Hodgkin
MedGen: C0024305 OMIM: 605027 GeneReviews: Not available
Compare labs
Neoplasm of stomach
MedGen: C0038356 OMIM: 613659 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
NHGRI GWA Catalog
  • Apoptosis, organism-specific biosystem (from KEGG)
    Apoptosis, organism-specific biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Apoptosis, organism-specific biosystem (from WikiPathways)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
  • Apoptosis, conserved biosystem (from KEGG)
    Apoptosis, conserved biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
  • Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
    Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...
  • Caspase cascade in apoptosis, organism-specific biosystem (from Pathway Interaction Database)
    Caspase cascade in apoptosis, organism-specific biosystem
    Caspase cascade in apoptosis
  • Death Receptor Signalling, organism-specific biosystem (from REACTOME)
    Death Receptor Signalling, organism-specific biosystemThe death receptors, all cell-surface receptors, begin the process of caspase activation. The common feature of these type 1 transmembrane proteins is the "death-domain" a conserved cytoplasmic motif...
  • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
    Direct p53 effectors, organism-specific biosystem
    Direct p53 effectors
  • FAS (CD95) signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    FAS (CD95) signaling pathway, organism-specific biosystem
    FAS (CD95) signaling pathway
  • Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation, organism-specific biosystem (from WikiPathways)
    Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation, organism-specific biosystemThis pathway describes the Fas induced apoptosis and interplay with Hsp27 in response to stress. More info: [http://www.biocarta.com/pathfiles/h_hsp27Pathway.asp BioCarta].
  • FasL/ CD95L signaling, organism-specific biosystem (from REACTOME)
    FasL/ CD95L signaling, organism-specific biosystemThe Fas family of cell surface receptors initiate the apototic pathway through interaction with the external ligand, FasL. The cytoplasmic domain of Fas interacts with a number of molecules in the t...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Hepatitis B, organism-specific biosystem (from KEGG)
    Hepatitis B, organism-specific biosystemHepatitis B virus (HBV) is an enveloped virus and contains a partially double-stranded relaxed circular DNA (RC-DNA) genome. After entry into hepatocytes, HBV RC-DNA is transported to the nucleus and...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
  • NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10, organism-specific biosystem (from REACTOME)
    NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10, organism-specific biosystemFas-AssociatedDeathDomain (FADD) and receptor interacting protein 1 (RIP1) are death domain containing molecules that interact with the C-terminal portion of IPS-1 and induce NF-kB through interactio...
  • RIG-I-like Receptor Signaling, organism-specific biosystem (from WikiPathways)
    RIG-I-like Receptor Signaling, organism-specific biosystemViral pathogen RNA are recognized by host helicases called RIG-I-like receptors (RLRs) that include DDX58 (RIG-I), DHX58 (LGP2), IFIH1 (MDA5), SNW1, and DDX17. These RLR proteins then go on to initia...
  • RIG-I-like receptor signaling pathway, organism-specific biosystem (from KEGG)
    RIG-I-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting viral pathogens and generating innate immune responses. Non-self RNA appearing in a cell as a result of intracellular ...
  • RIG-I-like receptor signaling pathway, conserved biosystem (from KEGG)
    RIG-I-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting viral pathogens and generating innate immune responses. Non-self RNA appearing in a cell as a result of intracellular ...
  • RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways, organism-specific biosystem (from REACTOME)
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways, organism-specific biosystemRIG-I-like helicases (RLHs) the retinoic acid inducible gene-I (RIG-I) and melanoma differentiation associated gene 5 (MDA5) are RNA helicases that recognize viral RNA present within the cytoplasm. F...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • TNF signaling pathway, organism-specific biosystem (from KEGG)
    TNF signaling pathway, organism-specific biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
  • TNF signaling pathway, conserved biosystem (from KEGG)
    TNF signaling pathway, conserved biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
  • TP53 Regulates Transcription of Caspase Activators and Caspases, organism-specific biosystem (from REACTOME)
    TP53 Regulates Transcription of Caspase Activators and Caspases, organism-specific biosystemTP53 (p53) transcriptionally regulates cytosolic caspase activators, such as APAF1, PIDD1, and NLRC4, and caspases themselves, such as CASP1, CASP6 and CASP10. These caspases and their activators are...
  • TP53 Regulates Transcription of Cell Death Genes, organism-specific biosystem (from REACTOME)
    TP53 Regulates Transcription of Cell Death Genes, organism-specific biosystemThe tumor suppressor TP53 (p53) exerts its tumor suppressive role in part by regulating transcription of a number of genes involved in cell death, mainly apoptotic cell death. The majority of apoptot...
  • TRAIL signaling, organism-specific biosystem (from REACTOME)
    TRAIL signaling, organism-specific biosystemTumor necrosis factor-related apoptosis-inducing ligand or Apo 2 ligand (TRAIL/Apo2L) is a member of the tumor necrosis factor (TNF) family. This group of apoptosis induction pathways all work throug...
  • TRAIL signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    TRAIL signaling pathway, organism-specific biosystem
    TRAIL signaling pathway
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
  • Tuberculosis, organism-specific biosystem (from KEGG)
    Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
  • Tuberculosis, conserved biosystem (from KEGG)
    Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
activation of cysteine-type endopeptidase activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apoptotic process TAS
Traceable Author Statement
more info
PubMed 
apoptotic signaling pathway TAS
Traceable Author Statement
more info
 
cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
 
execution phase of apoptosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of I-kappaB kinase/NF-kappaB signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
regulation of apoptotic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
CD95 death-inducing signaling complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
ripoptosome IDA
Inferred from Direct Assay
more info
PubMed 
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

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_001206524.1NP_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, OTTHUMP00000206550, ENST00000313728.11, OTTHUMT00000336848
    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_001206542.1NP_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, OTTHUMP00000206551, ENST00000448480.1, OTTHUMT00000336849
    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_001230.4NP_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, OTTHUMP00000163714, ENST00000346817.9, OTTHUMT00000256274
    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_001306083.1NP_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)
    AC007283, AK225475, AW190618, BP871945, DA456072, U60519
    Consensus CDS
    CCDS77506.1
    UniProtKB/Swiss-Prot
    Q92851
    Related
    ENSP00000363781.3, OTTHUMP00000206548, ENST00000374650.7, OTTHUMT00000336846
    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_032974.4NP_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, OTTHUMP00000163713, ENST00000272879.9, OTTHUMT00000256273
    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_032976.3NP_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_032977.3NP_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, OTTHUMP00000163712, ENST00000286186.10, OTTHUMT00000256272
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    201182881..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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