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CASP1 caspase 1, apoptosis-related cysteine peptidase [ Homo sapiens (human) ]

Gene ID: 834, updated on 19-Jul-2014
Official Symbol
CASP1provided by HGNC
Official Full Name
caspase 1, apoptosis-related cysteine peptidaseprovided by HGNC
Primary source
HGNC:1499
See related
Ensembl:ENSG00000137752; HPRD:00977; MIM:147678; Vega:OTTHUMG00000048072
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]
See CASP1 in Epigenomics, MapViewer
Location:
11q23
Exon count :
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (105025508..105035190, 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, apoptosis-related cysteine peptidase Neighboring gene caspase 5, apoptosis-related cysteine peptidase Neighboring gene caspase recruitment domain family, member 16 Neighboring gene caspase 1, apoptosis-related cysteine peptidase pseudogene 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 Protein Interaction Database

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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
 
cysteine-type endopeptidase activity TAS
Traceable Author Statement
more info
 
endopeptidase activity IDA
Inferred from Direct Assay
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of cysteine-type endopeptidase activity involved in apoptotic process TAS
Traceable Author Statement
more info
PubMed 
apoptotic process TAS
Traceable Author Statement
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 
execution phase of apoptosis IBA
Inferred from Biological aspect of Ancestor
more info
 
innate immune response TAS
Traceable Author Statement
more info
 
interleukin-1 beta production IEA
Inferred from Electronic Annotation
more info
 
membrane hyperpolarization IEA
Inferred from Electronic Annotation
more info
 
mitochondrial depolarization IEA
Inferred from Electronic Annotation
more info
 
nucleotide-binding domain, leucine rich repeat containing receptor 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 interleukin-1 alpha secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of interleukin-1 beta secretion IEA
Inferred from Electronic Annotation
more info
 
proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
pyroptosis IEA
Inferred from Electronic Annotation
more info
 
regulation of inflammatory response IBA
Inferred from Biological aspect of Ancestor
more info
 
response to ATP IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
AIM2 inflammasome complex IDA
Inferred from Direct Assay
more info
PubMed 
IPAF inflammasome complex IBA
Inferred from Biological aspect of Ancestor
more info
 
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 IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
caspase-1
Names
caspase-1
IL1B-convertase
CASP1 nirs variant 1
IL-1 beta-converting enzyme
interleukin 1, beta, convertase
interleukin 1-B converting enzyme
caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)
NP_001214.1
NP_001244047.1
NP_001244048.1
NP_150634.1
NP_150635.1
NP_150636.1
NP_150637.1

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_029124.1 

    Range
    4974..14623
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001223.4NP_001214.1  caspase-1 isoform beta precursor

    See proteins identical to 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, U13697
    Consensus CDS
    CCDS8329.1
    UniProtKB/Swiss-Prot
    P29466
    Related
    ENSP00000376844, ENST00000393136
    Conserved Domains (2) summary
    cd00032
    Location:131380
    Blast Score: 775
    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 ...
    cd08325
    Location:587
    Blast Score: 305
    CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
  2. NM_001257118.2NP_001244047.1  caspase-1 isoform alpha precursor

    See proteins identical to 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/TrEMBL
    A8K249
    UniProtKB/Swiss-Prot
    P29466
    Related
    ENSP00000433138, OTTHUMP00000232031, ENST00000533400, OTTHUMT00000388116
    Conserved Domains (2) summary
    cd00032
    Location:152401
    Blast Score: 776
    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 ...
    cd08325
    Location:587
    Blast Score: 307
    CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
  3. NM_001257119.2NP_001244048.1  caspase-1 isoform beta precursor

    See proteins identical to 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/TrEMBL
    A8K257
    UniProtKB/Swiss-Prot
    P29466
    Conserved Domains (2) summary
    cd00032
    Location:131380
    Blast Score: 775
    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 ...
    cd08325
    Location:587
    Blast Score: 305
    CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
  4. NM_033292.3NP_150634.1  caspase-1 isoform alpha precursor

    See proteins identical to 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, M87507
    Consensus CDS
    CCDS8330.1
    UniProtKB/Swiss-Prot
    P29466
    Related
    ENSP00000410076, OTTHUMP00000045728, ENST00000436863, OTTHUMT00000109396
    Conserved Domains (2) summary
    cd00032
    Location:152401
    Blast Score: 776
    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 ...
    cd08325
    Location:587
    Blast Score: 307
    CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
  5. NM_033293.3NP_150635.1  caspase-1 isoform gamma

    See proteins identical to 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, U13698
    Consensus CDS
    CCDS53704.1
    UniProtKB/Swiss-Prot
    P29466
    Related
    ENSP00000434250, OTTHUMP00000232029, ENST00000526568, OTTHUMT00000388114
    Conserved Domains (1) summary
    cd00032
    Location:59308
    Blast Score: 772
    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 ...
  6. NM_033294.3NP_150636.1  caspase-1 isoform delta

    See proteins identical to 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, ENST00000446369
    Conserved Domains (1) summary
    cd00032
    Location:59260
    Blast Score: 635
    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 ...
  7. NM_033295.3NP_150637.1  caspase-1 isoform epsilon

    See proteins identical to 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, ENST00000353247
    Conserved Domains (1) summary
    cl00042
    Location:1386
    Blast Score: 260
    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 Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

    Range
    105025508..105035190
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718924.1XP_006718987.1  

    Conserved Domains (2) summary
    cd00032
    Location:149398
    Blast Score: 779
    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 ...
    cl14633
    Location:3084
    Blast Score: 218
    DD; Death Domain Superfamily of protein-protein interaction domains

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    100827223..100836872
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    104779164..104788813
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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