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CASP4 caspase 4, apoptosis-related cysteine peptidase [ Homo sapiens (human) ]

Gene ID: 837, updated on 6-Jul-2014
Official Symbol
CASP4provided by HGNC
Official Full Name
caspase 4, apoptosis-related cysteine peptidaseprovided by HGNC
Primary source
HGNC:1505
See related
Ensembl:ENSG00000196954; HPRD:04047; MIM:602664; Vega:OTTHUMG00000166078
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
TX; ICH-2; Mih1/TX; ICEREL-II; ICE(rel)II
Summary
This gene encodes a protein that 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 composed of a prodomain and a large and small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This caspase is able to cleave and activate its own precursor protein, as well as caspase 1 precursor. When overexpressed, this gene induces cell apoptosis. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
See CASP4 in Epigenomics, MapViewer
Location:
11q22.2-q22.3
Exon count :
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (104942867..104968598, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (104813594..104839325, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene caspase 12 (gene/pseudogene) Neighboring gene caspase 4, apoptosis-related cysteine peptidase pseudogene Neighboring gene caspase 5, apoptosis-related cysteine peptidase Neighboring gene caspase 1, apoptosis-related cysteine peptidase

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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 ...
  • Caspase cascade in apoptosis, organism-specific biosystem (from Pathway Interaction Database)
    Caspase cascade in apoptosis, organism-specific biosystem
    Caspase cascade in apoptosis
  • 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
  • NOD1/2 Signaling Pathway, organism-specific biosystem (from REACTOME)
    NOD1/2 Signaling Pathway, organism-specific biosystemNOD1 is ubiquitously expressed, while NOD2 expression is restricted to monocytes, macrophages, dendritic cells, and intestinal Paneth cells (Inohara et al. 2005). NOD1 and NOD2 activation induces tra...
  • Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystem (from REACTOME)
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystemThe innate immune system is the first line of defense against invading microorganisms, a broad specificity response characterized by the recruitment and activation of phagocytes and the release of an...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cysteine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
apoptotic process TAS
Traceable Author Statement
more info
PubMed 
execution phase of apoptosis IBA
Inferred from Biological aspect of Ancestor
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
regulation of inflammatory response IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
AIM2 inflammasome complex IBA
Inferred from Biological aspect of Ancestor
more info
 
IPAF inflammasome complex IBA
Inferred from Biological aspect of Ancestor
more info
 
NLRP3 inflammasome complex IBA
Inferred from Biological aspect of Ancestor
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
caspase-4
Names
caspase-4
CASP-4
ICE(rel)-II
protease TX
protease ICH-2
apoptotic cysteine protease Mih1/TX
caspase 4, apoptosis-related cysteine protease
NP_001216.1
NP_150649.1

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.

mRNA and Protein(s)

  1. NM_001225.3NP_001216.1  caspase-4 isoform alpha precursor

    See proteins identical to NP_001216.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (alpha) encodes the longest isoform (alpha).
    Source sequence(s)
    AI128358, CN261701, Z48810
    Consensus CDS
    CCDS8327.1
    UniProtKB/Swiss-Prot
    P49662
    Conserved Domains (2) summary
    cd00032
    Location:125374
    Blast Score: 738
    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:581
    Blast Score: 266
    CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
  2. NM_033306.2NP_150649.1  caspase-4 isoform gamma precursor

    See proteins identical to NP_150649.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (gamma) includes an alternate exon in the 5' UTR and 5' coding region and uses a downstream in-frame start codon, compared to variant alpha. It encodes isoform gamma, which is shorter than isoform alpha.
    Source sequence(s)
    AI128358, U28978
    Consensus CDS
    CCDS41704.1
    UniProtKB/Swiss-Prot
    P49662
    Related
    ENSP00000376857, OTTHUMP00000231864, ENST00000393150, OTTHUMT00000387752
    Conserved Domains (2) summary
    cd00032
    Location:69318
    Blast Score: 738
    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:125
    Blast Score: 93
    DD; Death Domain Superfamily of protein-protein interaction domains

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
    104942867..104968598
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    100744534..100770269
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    104696522..104722254
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_033307.2: Suppressed sequence

    Description
    NM_033307.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

Supplemental Content

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