CASP7 caspase 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CASP7provided by HGNC
Official Full Name: caspase 7provided by HGNC
Primary source: HGNC:HGNC:1508
See related: Ensembl:ENSG00000165806 MIM:601761; AllianceGenome:HGNC:1508
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: MCH3; CMH-1; LICE2; CASP-7; ICE-LAP3
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. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
Expression: Broad expression in colon (RPKM 28.2), small intestine (RPKM 22.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q25.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (113679194..113730909)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (114571036..114622770)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (115438953..115490668)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TLR2 and CASP7 as the biomarkers associated with non-alcoholic fatty liver disease and chronic kidney disease.
Title: TLR2 and CASP7 as the biomarkers associated with non-alcoholic fatty liver disease and chronic kidney disease.
Role of CASP7 polymorphisms in noise-induced hearing loss risk in Han Chinese population.
Title: Role of CASP7 polymorphisms in noise-induced hearing loss risk in Han Chinese population.
Characterization of caspase-7 interaction with RNA.
Title: Characterization of caspase-7 interaction with RNA.
Combination treatment of Src inhibitor Saracatinib with GMI, a Ganoderma microsporum immunomodulatory protein, induce synthetic lethality via autophagy and apoptosis in lung cancer cells.
Title: Combination treatment of Src inhibitor Saracatinib with GMI, a Ganoderma microsporum immunomodulatory protein, induce synthetic lethality via autophagy and apoptosis in lung cancer cells.
Engineering caspase 7 as an affinity reagent to capture proteolytic products.
Title: Engineering caspase 7 as an affinity reagent to capture proteolytic products.
Autoimmune inner ear disease patient-associated 28-kDa proinflammatory IL-1beta fragment results from caspase-7-mediated cleavage in vitro.
Title: Autoimmune inner ear disease patient-associated 28-kDa proinflammatory IL-1β fragment results from caspase-7-mediated cleavage in vitro.
The Relevance of SNPs at 3'UTR Region of CASP7 and miR-371b-5p Associated Diseases: A Computational Analysis.
Title: The Relevance of SNPs at 3'UTR Region of CASP7 and miR-371b-5p Associated Diseases: A Computational Analysis.
Association of genetic polymorphisms in CASP7 with risk of ischaemic stroke.
Title: Association of genetic polymorphisms in CASP7 with risk of ischaemic stroke.
Endocrine resistant breast cancer cells with loss of ERalpha expression retain proliferative ability by reducing caspase7-mediated HDAC3 cleavage.
Title: Endocrine resistant breast cancer cells with loss of ERα expression retain proliferative ability by reducing caspase7-mediated HDAC3 cleavage.
Study identified associations in people of European ancestry with variants in 12 novel loci. The most robust finding is a rare CASP7 missense variant which improved when combined with results from stage 2 data sets. This study demonstrated that an enriched case design can strengthen genetic signals, thus allowing detection of associations that would otherwise be missed in a traditional case-control study.
Title: A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease.

Submit: New GeneRIF Correction See all GeneRIFs (99)

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

EBI GWAS Catalog

Description
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 Env from Yu-2 and primary isolates activate Caspase-3 and Caspase-7 in bystander cells of co-culture assays	PubMed
Tat	tat	HIV-1 Tat activates caspase 3/7 to induce apoptotic cell death in retinal pigment epithelial cells	PubMed
Vpr	vpr	Treatment of primary human astrocytes with HIV-1 Vpr activates caspase 7	PubMed
	vpr	Virion-associated Vpr triggers apoptosis through caspases 3/7 and 9 in human T cells independently of other HIV de novo-expressed proteins and also activates caspase 8, the initiator caspase of the death receptor pathway	PubMed
	vpr	Virion-associated Vpr activates caspase 3/7, 8, and 9 in Fas-mediated apoptosis in Jurkat T cells and human activated PBMCs	PubMed
	vpr	The proteomic assay from Vpr-expressing HTLV-1 transformed cells reveals apoptosis related protein changes, such as increase of caspase 7 activity	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-33054 (e-PCR)
- UniSTS:60686

D10S1306E (e-PCR)
- UniSTS:151338

RH18047 (e-PCR)
- UniSTS:8837

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables aspartic-type endopeptidase activity	IEA Inferred from Electronic Annotation more info
enables cysteine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type endopeptidase activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type endopeptidase activity involved in apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
enables cysteine-type endopeptidase activity involved in execution phase of apoptosis	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type endopeptidase activity involved in execution phase of apoptosis	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type endopeptidase activity involved in execution phase of apoptosis	IMP Inferred from Mutant Phenotype more info	PubMed
enables cysteine-type peptidase activity	TAS Traceable Author Statement more info	PubMed
enables peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to lipopolysaccharide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to staurosporine	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in defense response to bacterium	IEA Inferred from Electronic Annotation more info
involved_in execution phase of apoptosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in execution phase of apoptosis	IDA Inferred from Direct Assay more info	PubMed
involved_in fibroblast apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in lymphocyte apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neuron apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of plasma membrane repair	IEA Inferred from Electronic Annotation more info
involved_in protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in protein maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein processing	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in response to UV	IEA Inferred from Electronic Annotation more info
involved_in striated muscle cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in extracellular space	TAS Traceable Author Statement more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: caspase-7

Names: ICE-like apoptotic protease 3; apoptotic protease MCH-3; caspase 7, apoptosis-related cysteine peptidase; caspase 7, apoptosis-related cysteine protease

NP_001218.1

EC 3.4.22.60

NP_001253985.1

EC 3.4.22.60

NP_001253986.1

EC 3.4.22.60

NP_001253987.1

EC 3.4.22.60

NP_001307840.1

EC 3.4.22.60

NP_203124.1

EC 3.4.22.60

NP_203125.1

EC 3.4.22.60

NP_203126.1

EC 3.4.22.60

XP_006718080.1

EC 3.4.22.60

XP_011538562.1

EC 3.4.22.60

XP_016872252.1

EC 3.4.22.60

XP_054222878.1

EC 3.4.22.60

XP_054222879.1

EC 3.4.22.60

XP_054222880.1

EC 3.4.22.60

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_001227.5 → NP_001218.1 caspase-7 isoform alpha precursor

See identical proteins and their annotated locations for NP_001218.1

Status: REVIEWED

Description

Transcript Variant: This variant (a, also known as alpha) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant d. Variants a, c and e encode the same isoform (alpha), which has a shorter N-terminus compared to isoform delta.

Source sequence(s)

AL627395, BC015799, BM976488, U37448

Consensus CDS

CCDS7581.1

UniProtKB/Swiss-Prot

B4DQU7, B5BU45, D3DRB8, P55210, Q13364, Q53YD5, Q5SVL0, Q5SVL3, Q96BA0

UniProtKB/TrEMBL

B4DUB5

Related

ENSP00000358324.4, ENST00000369318.8

Conserved Domains (1) summary

cd00032
Location:60 → 301

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 ...
NM_001267056.2 → NP_001253985.1 caspase-7 isoform alpha precursor

See identical proteins and their annotated locations for NP_001253985.1

Status: REVIEWED

Description

Transcript Variant: This variant (e) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant d. Variants a, c and e encode the same isoform (alpha), which has a shorter N-terminus compared to isoform delta.

Source sequence(s)

BM976488, BX647973, DC364916

Consensus CDS

CCDS7581.1

UniProtKB/Swiss-Prot

B4DQU7, B5BU45, D3DRB8, P55210, Q13364, Q53YD5, Q5SVL0, Q5SVL3, Q96BA0

UniProtKB/TrEMBL

B4DUB5

Related

ENSP00000480584.1, ENST00000621345.4

Conserved Domains (1) summary

cd00032
Location:60 → 301

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 ...
NM_001267057.1 → NP_001253986.1 caspase-7 isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (f) lacks an internal exon in the 5' region and initiates translation at an alternate upstream start codon, compared to variant d. The encoded isoform (e) is longer and has a distinct N-terminus, compared to isoform delta.

Source sequence(s)

AK301437, AL627395, BC015799, BM976488, BQ006259, U67206

Consensus CDS

CCDS73200.1

UniProtKB/TrEMBL

A0A0A0MRL7, B4DWA2

Related

ENSP00000358327.3, ENST00000369321.6

Conserved Domains (1) summary

cd00032
Location:145 → 386

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 ...
NM_001267058.2 → NP_001253987.1 caspase-7 isoform f

See identical proteins and their annotated locations for NP_001253987.1

Status: REVIEWED

Description

Transcript Variant: This variant (g) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (f) is shorter and has a distinct N-terminus, compared to isoform delta.

Source sequence(s)

AK298964, BC015799, BM976488, DC332144

Consensus CDS

CCDS58096.1

UniProtKB/TrEMBL

A0A5F9ZHZ6

Related

ENSP00000398107.2, ENST00000452490.3

Conserved Domains (1) summary

cd00032
Location:35 → 276

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 ...
NM_001320911.2 → NP_001307840.1 caspase-7 isoform g

Status: REVIEWED

Source sequence(s)

AL592546, BC015799, BX647973, DC405356, DC407017

UniProtKB/TrEMBL

B4DWA2

Conserved Domains (1) summary

cd00032
Location:68 → 309

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 ...
NM_033338.6 → NP_203124.1 caspase-7 isoform delta

See identical proteins and their annotated locations for NP_203124.1

Status: REVIEWED

Description

Transcript Variant: This variant (d, also known as delta and alpha') represents the longest transcript and encodes isoform delta.

Source sequence(s)

AL627395, BC015799, BM976488, BT006683, DC384804

Consensus CDS

CCDS7580.1

UniProtKB/Swiss-Prot

P55210

Related

ENSP00000478999.1, ENST00000621607.4

Conserved Domains (1) summary

cd00032
Location:93 → 334

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 ...
NM_033339.5 → NP_203125.1 caspase-7 isoform alpha precursor

See identical proteins and their annotated locations for NP_203125.1

Status: REVIEWED

Description

Transcript Variant: This variant (c, also known as gamma) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant d. Variants a, c and e encode the same isoform (alpha), which has a shorter N-terminus compared to isoform delta.

Source sequence(s)

BC015799, BM976488, U67206

Consensus CDS

CCDS7581.1

UniProtKB/Swiss-Prot

B4DQU7, B5BU45, D3DRB8, P55210, Q13364, Q53YD5, Q5SVL0, Q5SVL3, Q96BA0

UniProtKB/TrEMBL

B4DUB5

Related

ENSP00000298701.7, ENST00000345633.8

Conserved Domains (1) summary

cd00032
Location:60 → 301

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 ...
NM_033340.4 → NP_203126.1 caspase-7 isoform beta

See identical proteins and their annotated locations for NP_203126.1

Status: REVIEWED

Description

Transcript Variant: This variant (b, also known as beta) has multiple differences in the 5' UTR and coding region, and initiates translation at a downstream in-frame start codon, compared to variant d. The encoded isoform (beta) is shorter and has a distinct C-terminus, compared to isoform delta.

Source sequence(s)

BC015799, BM976488, DC364916, U37449

Consensus CDS

CCDS7582.1

UniProtKB/Swiss-Prot

P55210

Related

ENSP00000358337.3, ENST00000369331.8

Conserved Domains (2) summary

pfam13900
Location:154 → 174

GVQW; Putative domain of unknown function

cl00042
Location:60 → 148

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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

113679194..113730909

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017016763.2 → XP_016872252.1 caspase-7 isoform X1

UniProtKB/TrEMBL

B4DUB5
XM_006718017.4 → XP_006718080.1 caspase-7 isoform X2

UniProtKB/TrEMBL

B4DWA2

Conserved Domains (1) summary

cd00032
Location:74 → 315

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 ...
XM_011540260.2 → XP_011538562.1 caspase-7 isoform X3

UniProtKB/TrEMBL

A0A5F9ZHZ6

Conserved Domains (1) summary

cd00032
Location:27 → 268

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 ...