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CASP10 caspase 10 [ Homo sapiens (human) ]

Gene ID: 843, updated on 21-Aug-2020

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

Genomic context

See CASP10 in Genome Data Viewer
Location:
2q33.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (201182885..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 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
Neoplasm of stomach
MedGen: C0038356 OMIM: 613659 GeneReviews: Not available
Compare labs
Non-Hodgkin lymphoma
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
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 signaling pathway TAS
Traceable Author Statement
more info
 
cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
 
execution phase of apoptosis IEA
Inferred from Electronic Annotation
more info
 
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 

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)

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 109.20200815

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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