Format

Send to:

Choose Destination

CASP4 caspase 4 [ Homo sapiens (human) ]

Gene ID: 837, updated on 17-Jun-2019

Summary

Official Symbol
CASP4provided by HGNC
Official Full Name
caspase 4provided by HGNC
Primary source
HGNC:HGNC:1505
See related
Ensembl:ENSG00000196954 MIM:602664
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; Mih1; 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]
Expression
Ubiquitous expression in appendix (RPKM 42.7), lymph node (RPKM 37.1) and 24 other tissues See more
Orthologs

Genomic context

See CASP4 in Genome Data Viewer
Location:
11q22.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (104942866..104968596, 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 uncharacterized LOC107984380 Neighboring gene caspase 12 (gene/pseudogene) Neighboring gene caspase 17, pseudogene Neighboring gene caspase 5 Neighboring gene caspase 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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 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
  • 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
  • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
    NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
    NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • 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...

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 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 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 
cellular response to amyloid-beta IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT execution phase of apoptosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of tumor necrosis factor-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
inflammasome complex IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
caspase-4
Names
CASP-4
ICE and Ced-3 homolog 2
ICE(rel)-II
apoptotic cysteine protease Mih1/TX
caspase 4, apoptosis-related cysteine peptidase
caspase 4, apoptosis-related cysteine protease
protease ICH-2
protease TX
NP_001216.1
NP_150649.1
XP_011541321.1
XP_016873886.1

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.

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001216.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (alpha) encodes the longest isoform (alpha).
    Source sequence(s)
    AI128358, AP002004, CN261701, Z48810
    Consensus CDS
    CCDS8327.1
    UniProtKB/Swiss-Prot
    P49662
    Related
    ENSP00000388566.2, ENST00000444739.7
    Conserved Domains (2) summary
    smart00115
    Location:126375
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
    cd08325
    Location:581
    CARD_CASP1-like; Caspase activation and recruitment domain found in Caspase-1 and related proteins
  2. NM_033306.3NP_150649.1  caspase-4 isoform gamma precursor

    See identical proteins and their annotated locations for 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, AP001153, AP002004, U28978
    Consensus CDS
    CCDS41704.1
    UniProtKB/Swiss-Prot
    P49662
    Related
    ENSP00000376857.3, ENST00000393150.7
    Conserved Domains (2) summary
    smart00115
    Location:70319
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
    cl14633
    Location:125
    DD; Death Domain Superfamily of protein-protein interaction domains

RefSeqs of Annotated Genomes: Homo sapiens 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
    104942866..104968596 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543019.1XP_011541321.1  caspase-4 isoform X1

    See identical proteins and their annotated locations for XP_011541321.1

    UniProtKB/Swiss-Prot
    P49662
    Conserved Domains (1) summary
    smart00115
    Location:35284
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
  2. XM_017018397.1XP_016873886.1  caspase-4 isoform X1

    UniProtKB/Swiss-Prot
    P49662
    Conserved Domains (1) summary
    smart00115
    Location:35284
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues

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.
Support Center