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CASP5 caspase 5 [ Homo sapiens (human) ]

Gene ID: 838, updated on 17-Jun-2019

Summary

Official Symbol
CASP5provided by HGNC
Official Full Name
caspase 5provided by HGNC
Primary source
HGNC:HGNC:1506
See related
Ensembl:ENSG00000137757 MIM:602665
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
ICH-3; ICEREL-III; ICE(rel)III
Summary
This gene encodes 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. Overexpression of the active form of this enzyme induces apoptosis in fibroblasts. Max, a central component of the Myc/Max/Mad transcription regulation network important for cell growth, differentiation, and apoptosis, is cleaved by this protein; this process requires Fas-mediated dephosphorylation of Max. The expression of this gene is regulated by interferon-gamma and lipopolysaccharide. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]
Expression
Biased expression in appendix (RPKM 4.9), small intestine (RPKM 4.7) and 5 other tissues See more
Orthologs

Genomic context

See CASP5 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 (104994235..105023902, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (104864967..104893895, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene caspase 17, pseudogene Neighboring gene caspase 4 Neighboring gene caspase 1 Neighboring gene caspase recruitment domain family member 16

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

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...
  • Nucleotide-binding Oligomerization Domain (NOD) pathway, organism-specific biosystem (from WikiPathways)
    Nucleotide-binding Oligomerization Domain (NOD) pathway, organism-specific biosystemThe NOD (nucleotide-binding oligomerization domain) proteins NOD1 and NOD2 have important roles in innate immunity as sensors of microbial components derived from bacterial peptidoglycan. The importa...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC141966

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 
cysteine-type peptidase activity TAS
Traceable Author Statement
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 
apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
cellular response to mechanical stimulus IEP
Inferred from Expression Pattern
more info
PubMed 
NOT execution phase of apoptosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
substantia nigra development HEP PubMed 
Component Evidence Code Pubs
NLRP1 inflammasome complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NLRP1 inflammasome complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
caspase-5
Names
TY protease
caspase 5, apoptosis-related cysteine peptidase
caspase 5, apoptosis-related cysteine protease
protease ICH-3
protease TY
NP_001129581.1
NP_001129582.1
NP_001129584.1
NP_004338.3
XP_011541323.1

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_001136109.2NP_001129581.1  caspase-5 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) is lacking an in-frame coding exon compared to transcript variant a, resulting in a shorter isoform (b) missing a 58 aa protein segment compared to isoform a.
    Source sequence(s)
    AK296660, AP001153, DQ228673, DR005081, X94993
    Consensus CDS
    CCDS44719.1
    UniProtKB/Swiss-Prot
    P51878
    Related
    ENSP00000388365.2, ENST00000444749.6
    Conserved Domains (2) summary
    smart00115
    Location:125374
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
    cl14633
    Location:584
    DD; Death Domain Superfamily of protein-protein interaction domains
  2. NM_001136110.2NP_001129582.1  caspase-5 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) is lacking two consecutive in-frame coding exons compared to transcript variant a, resulting in a shorter isoform (c) missing a 142 aa protein segment compared to isoform a.
    Source sequence(s)
    AK296660, AP001153, DQ228674, X94993
    Consensus CDS
    CCDS44718.1
    UniProtKB/Swiss-Prot
    P51878
    Related
    ENSP00000398130.1, ENST00000418434.5
    Conserved Domains (1) summary
    smart00115
    Location:41290
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
  3. NM_001136112.2NP_001129584.1  caspase-5 isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (f) uses an in-frame, alternate acceptor splice site at an internal coding exon compared to transcript variant a, resulting in a longer isoform (f) containing an additional 13 aa protein segment compared to isoform a.
    Source sequence(s)
    AK296660, AP001153, DQ228677, DR005081, X94993
    Consensus CDS
    CCDS44720.1
    UniProtKB/Swiss-Prot
    P51878
    Related
    ENSP00000376849.2, ENST00000393141.6
    Conserved Domains (2) summary
    smart00115
    Location:196445
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
    cl14633
    Location:76155
    DD; Death Domain Superfamily of protein-protein interaction domains
  4. NM_004347.5NP_004338.3  caspase-5 isoform a precursor

    See identical proteins and their annotated locations for NP_004338.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) encodes isoform a.
    Source sequence(s)
    AK296660, DQ228672, DR005081, X94993
    Consensus CDS
    CCDS8328.2
    UniProtKB/Swiss-Prot
    P51878
    Related
    ENSP00000260315.3, ENST00000260315.8
    Conserved Domains (2) summary
    smart00115
    Location:183432
    CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
    cl14633
    Location:63142
    DD; Death Domain Superfamily of protein-protein interaction domains

RNA

  1. NR_024239.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (e) is missing two internal coding exons compared to transcript variant a. This results in a frame-shift and premature translation termination, rendering the transcript susceptible to nonsense mediated mRNA decay (NMD). There is a publication (PMID:16893518) reporting the expression of this transcript, hence it is represented as a variant RefSeq, however, the predicted protein is not represented because it is significantly truncated.
    Source sequence(s)
    AK296660, AP001153, DQ228676, DR005081, X94993
    Related
    ENST00000456200.5
  2. NR_036562.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (g) lacks three alternate internal exons, compared to variant a. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant a, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK296660, AP001153, DQ228675, X94993

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
    104994235..105023902 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543021.2XP_011541323.1  caspase-5 isoform X1

    Conserved Domains (2) summary
    cl00042
    Location:183317
    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:63142
    DD; Death Domain Superfamily of protein-protein interaction domains
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