CASP5 caspase 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CASP5provided by HGNC
Official Full Name: caspase 5provided by HGNC
Primary source: HGNC:HGNC:1506
See related: Ensembl:ENSG00000137757 MIM:602665; AllianceGenome:HGNC:1506
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: all
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Genomic context

Location:: 11q22.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (104994243..105023168, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (104998332..105027245, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (104864970..104893895, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Caspase 5 depletion is linked to hyper-inflammatory response and progeroid syndrome.
Title: Caspase 5 depletion is linked to hyper-inflammatory response and progeroid syndrome.
Inhibition of circular RNA circ_0138959 alleviates pyroptosis of human gingival fibroblasts via the microRNA-527/caspase-5 axis.
Title: Inhibition of circular RNA circ_0138959 alleviates pyroptosis of human gingival fibroblasts via the microRNA-527/caspase-5 axis.
CASP5 and CR1 as potential biomarkers for Kawasaki disease: an Integrated Bioinformatics-Experimental Study.
Title: CASP5 and CR1 as potential biomarkers for Kawasaki disease: an Integrated Bioinformatics-Experimental Study.
SNX10-mediated LPS sensing causes intestinal barrier dysfunction via a caspase-5-dependent signaling cascade.
Title: SNX10-mediated LPS sensing causes intestinal barrier dysfunction via a caspase-5-dependent signaling cascade.
The in vitro application of cyclic stretching induced programmed cell death by activation of caspase-3 and -5 in periodontal ligament cells, and these two caspases could interact with each other after mechanical stretch loading.
Title: Interaction between caspase-3 and caspase-5 in the stretch-induced programmed cell death in the human periodontal ligament cells.
Knockdown of caspase-4/5 preserved human tubular epithelial cells from cell death and reduced the release of mature IL-1beta.
Title: Caspase-11-mediated tubular epithelial pyroptosis underlies contrast-induced acute kidney injury.
Long non-coding RNA CASP5 promotes the malignant phenotypes of human glioblastoma multiforme.
Title: Long non-coding RNA CASP5 promotes the malignant phenotypes of human glioblastoma multiforme.
Study shows that CASP5 was positively correlated with inflammation in rheumatoid arthritis (RA), and provides evidence that certain CASP5 SNPs were associated with an increased risk of RA.
Title: The association between caspase-5 gene polymorphisms and rheumatoid arthritis in a Chinese population.
Th17 micro-milieu via IL-17A regulates NLRP1-dependent CASP5 activity in psoriatic skin autoinflammation.
Title: Th17 micro-milieu regulates NLRP1-dependent caspase-5 activity in skin autoinflammation.
CASP5 gene overexpression significantly promoted angiogenesis ability of HMEC-1 cells, which was probably achieved by inhibiting angpt-1/Tie2 and promoting VEGF-1 signal pathway.
Title: Effects of CASP5 gene overexpression on angiogenesis of HMEC-1 cells.

Submit: New GeneRIF Correction See all GeneRIFs (35)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482321

RH71301 (e-PCR)
- UniSTS:53271

NoName (e-PCR)
- UniSTS:486362

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
NOT enables cysteine-type endopeptidase activity involved in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type peptidase activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
NOT involved_in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to mechanical stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of neuron apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in substantia nigra development	HEP more info	PubMed

Component	Evidence Code	Pubs
part_of NLRP1 inflammasome complex	IBA Inferred from Biological aspect of Ancestor more info
part_of NLRP1 inflammasome complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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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

EC 3.4.22.58

NP_001129582.1

EC 3.4.22.58

NP_001129584.1

EC 3.4.22.58

NP_004338.3

EC 3.4.22.58

NCBI Reference Sequences (RefSeq)

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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)

NM_001136109.3 → NP_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, DQ228673, DR005081, X94993

Consensus CDS

CCDS44719.1

Related

ENSP00000388365.2, ENST00000444749.6

Conserved Domains (2) summary

smart00115
Location:125 → 374

CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues

cl14633
Location:5 → 84

DD; Death Domain Superfamily of protein-protein interaction domains
NM_001136110.3 → NP_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, DQ228674, X94993

Consensus CDS

CCDS44718.1

UniProtKB/Swiss-Prot

P51878

Related

ENSP00000398130.1, ENST00000418434.5

Conserved Domains (1) summary

smart00115
Location:41 → 290

CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues
NM_001136112.3 → NP_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, DQ228677, DR005081, X94993

Consensus CDS

CCDS44720.1

Related

ENSP00000376849.2, ENST00000393141.6

Conserved Domains (2) summary

smart00115
Location:196 → 445

CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues

cl14633
Location:76 → 155

DD; Death Domain Superfamily of protein-protein interaction domains
NM_004347.5 → NP_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

B4DKP5, P51878, Q0QVY7, Q0QVY8, Q0QVZ0, Q0QVZ1, Q0QVZ2, Q14DD6, Q1HBJ3, Q6DJV7

Related

ENSP00000260315.3, ENST00000260315.8

Conserved Domains (2) summary

smart00115
Location:183 → 432

CASc; Caspase, interleukin-1 beta converting enzyme (ICE) homologues

cl14633
Location:63 → 142

DD; Death Domain Superfamily of protein-protein interaction domains

RNA

NR_024239.3 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, DQ228676, DR005081, X94993

Related

ENST00000456200.5
NR_036562.3 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, DQ228675, X94993