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CASP1 caspase 1 [ Homo sapiens (human) ]

Gene ID: 834, updated on 3-May-2020

Summary

Official Symbol
CASP1provided by HGNC
Official Full Name
caspase 1provided by HGNC
Primary source
HGNC:HGNC:1499
See related
Ensembl:ENSG00000137752 MIM:147678
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
ICE; P45; IL1BC
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 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]
Expression
Broad expression in small intestine (RPKM 39.5), duodenum (RPKM 37.3) and 21 other tissues See more
Orthologs

Genomic context

See CASP1 in Genome Data Viewer
Location:
11q22.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (105025443..105035591, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (104896235..104905884, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene caspase 4 Neighboring gene caspase 5 Neighboring gene uncharacterized LOC107984381 Neighboring gene caspase recruitment domain family member 16 Neighboring gene caspase 1 pseudogene 2

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?

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1-infected clinical samples have increased plasma levels of CASP1 (Caspase-1) concomitant with higher levels of CD4+ T lymphocytes PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120-induced apoptosis in Spodoptera frugiperda cells is caspase-1-dependent PubMed
env Up-regulation of apoptosis genes such as caspase 1, NALP1, and TNF receptor-associated factor 5 are induced by HIV-gp120/ethanol in human neurons PubMed
env Apoptosis induced by HIV-1 gp120/CD4 cross-linking in Th1 clones is inhibited by anti-CD95 or anti-CD95L neutralizing monoclonal antibodies, as well as by a specific interleukin-1 beta converting enzyme (ICE) inhibitor PubMed
Vpr vpr HIV-1 Vpr-induced apoptosis involves activation of caspases and the involvement of caspase 1 is suggested based on studies with mice transgenic for the HIV-1 vpr gene PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
CARD domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
cysteine-type endopeptidase activator activity involved in apoptotic process TAS
Traceable Author Statement
more info
PubMed 
cysteine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cysteine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT cysteine-type endopeptidase activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cysteine-type endopeptidase activity involved in apoptotic signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
NOT activation of cysteine-type endopeptidase activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
cellular response to cytokine stimulus TAS
Traceable Author Statement
more info
 
cellular response to interferon-gamma IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to lipopolysaccharide IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to mechanical stimulus IEP
Inferred from Expression Pattern
more info
PubMed 
cellular response to organic substance IDA
Inferred from Direct Assay
more info
PubMed 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of I-kappaB kinase/NF-kappaB signaling IEP
Inferred from Expression Pattern
more info
PubMed 
positive regulation of I-kappaB kinase/NF-kappaB signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interleukin-1 beta production IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interleukin-1 beta secretion IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interleukin-1 beta secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of tumor necrosis factor-mediated signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein autoprocessing IDA
Inferred from Direct Assay
more info
PubMed 
proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
regulation of apoptotic process TAS
Traceable Author Statement
more info
 
regulation of inflammatory response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
AIM2 inflammasome complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
AIM2 inflammasome complex IDA
Inferred from Direct Assay
more info
PubMed 
IPAF inflammasome complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
IPAF inflammasome complex ISS
Inferred from Sequence or Structural Similarity
more info
 
NLRP1 inflammasome complex IDA
Inferred from Direct Assay
more info
PubMed 
NLRP3 inflammasome complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NLRP3 inflammasome 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
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
protease inhibitor complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
caspase-1
Names
CASP1 nirs variant 1
IL-1 beta-converting enzyme
IL1B-convertase
caspase 1, apoptosis-related cysteine peptidase
interleukin 1, beta, convertase
interleukin 1-B converting enzyme
NP_001214.1
NP_001244047.1
NP_001244048.1
NP_150634.1
NP_150635.1
NP_150636.1
NP_150637.1
XP_016873882.1
XP_016873883.1
XP_016873884.1
XP_016873885.1

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_029124.2 RefSeqGene

    Range
    4987..14688
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001223.5NP_001214.1  caspase-1 isoform beta precursor

    See identical proteins and their annotated locations for NP_001214.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (beta) lacks an in-frame exon in the coding region, compared to variant alpha. Variant beta encodes a protein lacking an internal segment, compared to isoform alpha.Variant beta and variant 7 encode the same protein.
    Source sequence(s)
    AA505065, AP001153, KF455483, U13697
    Consensus CDS
    CCDS8329.1
    UniProtKB/Swiss-Prot
    P29466
    Related
    ENSP00000432340.1, ENST00000527979.5
    Conserved Domains (2) summary
    smart00115
    Location:132381
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
    cd08325
    Location:587
    CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
  2. NM_001257118.3NP_001244047.1  caspase-1 isoform alpha precursor

    See identical proteins and their annotated locations for NP_001244047.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 3' UTR compared to variant alpha. Variant alpha and variant 6 encode the same protein.
    Source sequence(s)
    AA737419, AK290114, AP001153, KF455483
    Consensus CDS
    CCDS8330.1
    UniProtKB/Swiss-Prot
    P29466
    UniProtKB/TrEMBL
    A8K249
    Related
    ENSP00000433138.1, ENST00000533400.6
    Conserved Domains (2) summary
    smart00115
    Location:153402
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
    cd08325
    Location:587
    CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
  3. NM_001257119.3NP_001244048.1  caspase-1 isoform beta precursor

    See identical proteins and their annotated locations for NP_001244048.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an alternate in-frame exon and differs in the 3' UTR compared to variant alpha. Variant beta and variant 7 encode the same protein.
    Source sequence(s)
    AA737419, AK290122, AP001153, KF455483
    Consensus CDS
    CCDS8329.1
    UniProtKB/Swiss-Prot
    P29466
    UniProtKB/TrEMBL
    A8K257
    Related
    ENSP00000434779.1, ENST00000525825.5
    Conserved Domains (2) summary
    smart00115
    Location:132381
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
    cd08325
    Location:587
    CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
  4. NM_033292.4NP_150634.1  caspase-1 isoform alpha precursor

    See identical proteins and their annotated locations for NP_150634.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (alpha) encodes the longest isoform (alpha). Variant alpha and variant 6 encode the same protein.
    Source sequence(s)
    AA505065, AP001153, KF455483, M87507
    Consensus CDS
    CCDS8330.1
    UniProtKB/Swiss-Prot
    P29466
    Related
    ENSP00000410076.3, ENST00000436863.7
    Conserved Domains (2) summary
    smart00115
    Location:153402
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
    cd08325
    Location:587
    CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
  5. NM_033293.4NP_150635.1  caspase-1 isoform gamma

    See identical proteins and their annotated locations for NP_150635.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (gamma) has multiple differences in the coding region but the translation remains in frame, compared to variant alpha. Variant gamma encodes a protein lacking an internal segment, as compared to isoform alpha.
    Source sequence(s)
    AA761907, AP001153, KF455483, U13698
    Consensus CDS
    CCDS53704.1
    UniProtKB/Swiss-Prot
    P29466
    Related
    ENSP00000434250.1, ENST00000526568.5
    Conserved Domains (1) summary
    smart00115
    Location:60309
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
  6. NM_033294.3NP_150636.1  caspase-1 isoform delta

    See identical proteins and their annotated locations for NP_150636.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (delta) has multiple differences in the coding region but the translation remains in frame, compared to variant alpha. Variant delta encodes a protein lacking two internal segments, compared to the isoform alpha. Isoform delta lacks apoptosis-inducing activity.
    Source sequence(s)
    AA761907, AP001153, U13699
    Consensus CDS
    CCDS8331.1
    UniProtKB/Swiss-Prot
    P29466
    Related
    ENSP00000403260.1, ENST00000446369.5
    Conserved Domains (1) summary
    smart00115
    Location:60261
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
  7. NM_033295.3NP_150637.1  caspase-1 isoform epsilon

    See identical proteins and their annotated locations for NP_150637.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (epsilon) has multiple differences in the coding region but the translation remains in frame, compared to variant alpha. Variant epsilon encodes a protein lacking an internal segment, compared to isoform alpha. Isoform epsilon lacks apoptosis-inducing activity.
    Source sequence(s)
    AA761907, AP001153, U13700
    Consensus CDS
    CCDS8332.1
    UniProtKB/Swiss-Prot
    P29466
    Related
    ENSP00000344132.5, ENST00000353247.9
    Conserved Domains (1) summary
    cl00042
    Location:1386
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues; Cysteine-dependent aspartate-directed proteases that mediate programmed cell death (apoptosis). Caspases are synthesized as inactive zymogens and activated by proteolysis of the peptide ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    105025443..105035591 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018395.1XP_016873884.1  caspase-1 isoform X2

  2. XM_017018394.1XP_016873883.1  caspase-1 isoform X1

  3. XM_017018393.1XP_016873882.1  caspase-1 isoform X1

  4. XM_017018396.1XP_016873885.1  caspase-1 isoform X3

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