Format

Send to:

Choose Destination

CASP7 caspase 7 [ Homo sapiens (human) ]

Gene ID: 840, updated on 1-Jun-2020

Summary

Official Symbol
CASP7provided by HGNC
Official Full Name
caspase 7provided by HGNC
Primary source
HGNC:HGNC:1508
See related
Ensembl:ENSG00000165806 MIM:601761
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

Genomic context

See CASP7 in Genome Data Viewer
Location:
10q25.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (113679162..113730909)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (115438921..115490668)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984270 Neighboring gene peptidylprolyl isomerase A pseudogene 39 Neighboring gene hyaluronan binding protein 2 Neighboring gene nebulin related anchoring protein Neighboring gene pleckstrin homology domain containing S1 Neighboring gene microRNA 4483 Neighboring gene uncharacterized LOC107984271 Neighboring gene DNA cross-link repair 1A

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 Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
NHGRI GWA Catalog

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to staurosporine IMP
Inferred from Mutant Phenotype
more info
PubMed 
execution phase of apoptosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
execution phase of apoptosis TAS
Traceable Author Statement
more info
 
proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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
NP_001253985.1
NP_001253986.1
NP_001253987.1
NP_001307840.1
NP_203124.1
NP_203125.1
NP_203126.1
XP_006718080.1
XP_011538562.1
XP_016872252.1
XP_016872253.1

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_001227.5NP_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
    P55210
    Related
    ENSP00000358324.3, ENST00000369318.7
    Conserved Domains (1) summary
    cd00032
    Location:60301
    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 ...
  2. NM_001267056.1NP_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, BQ006259, BX647973, DC364916
    Consensus CDS
    CCDS7581.1
    UniProtKB/Swiss-Prot
    P55210
    Related
    ENSP00000480584.1, ENST00000621345.4
    Conserved Domains (1) summary
    cd00032
    Location:60301
    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 ...
  3. NM_001267057.1NP_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/Swiss-Prot
    P55210
    UniProtKB/TrEMBL
    A0A0A0MRL7, B4DWA2
    Related
    ENSP00000358327.3, ENST00000369321.6
    Conserved Domains (1) summary
    cd00032
    Location:145386
    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 ...
  4. NM_001267058.1NP_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, BQ006259, DC332144
    Consensus CDS
    CCDS58096.1
    UniProtKB/Swiss-Prot
    P55210
    Related
    ENSP00000398107.2, ENST00000452490.3
    Conserved Domains (1) summary
    cd00032
    Location:35276
    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 ...
  5. NM_001320911.2NP_001307840.1  caspase-7 isoform g

    Status: REVIEWED

    Source sequence(s)
    AL592546, BC015799, BX647973, DC405356, DC407017
    UniProtKB/Swiss-Prot
    P55210
    Conserved Domains (1) summary
    cd00032
    Location:68309
    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 ...
  6. NM_033338.6NP_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:93334
    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 ...
  7. NM_033339.5NP_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
    P55210
    Related
    ENSP00000298701.7, ENST00000345633.8
    Conserved Domains (1) summary
    cd00032
    Location:60301
    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 ...
  8. NM_033340.4NP_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:154174
    GVQW; Putative domain of unknown function
    cl00042
    Location:60148
    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: Homo sapiens Updated 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_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    113679162..113730909
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718017.3XP_006718080.1  caspase-7 isoform X2

    Conserved Domains (1) summary
    cd00032
    Location:74315
    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 ...
  2. XM_017016763.1XP_016872252.1  caspase-7 isoform X1

  3. XM_017016764.1XP_016872253.1  caspase-7 isoform X3

    Conserved Domains (1) summary
    cd00032
    Location:68309
    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 ...
  4. XM_011540260.1XP_011538562.1  caspase-7 isoform X4

    Conserved Domains (1) summary
    cd00032
    Location:27268
    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 ...
Support Center