• Gene id: 840

Gene Summary

• Gene Symbol: CASP7   Gene   UCSC   Ensembl
• Aliases: CASP-7, CMH-1, ICE-LAP3, LICE2, MCH3
• Gene name: caspase 7
• Alternate names: caspase-7, ICE-like apoptotic protease 3, apoptotic protease MCH-3, caspase 7, apoptosis-related cysteine peptidase, caspase 7, apoptosis-related cysteine protease,
• Gene location: 10q25.3 (113679161: 113730908)     Exons: 13     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 601761

SNPs

rs3741843

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.10938833C>A
NC_000012.12   g.10938833C>G
NC_000012.12   g.10938833C>T
NC_000012.11   g.11091432C>A
NC_000012.11   g.11091432C>G
NC_000012.11   g.11091432C>T
NT_187658.1   g.137539C>A
NT_187658.1   g.137539C>G
NT_187658.1   g.137539C>T
NW_003571050.1   g

Protein Summary

• Protein general information: P55210  
  • Name: Caspase 7 (CASP 7) (EC 3.4.22.60) (Apoptotic protease Mch 3) (CMH 1) (ICE like apoptotic protease 3) (ICE LAP3) [Cleaved into: Caspase 7 subunit p20; Caspase 7 subunit p11]
  • Length: 303  
  • Mass: 34277
  • Tissue specificity: Highly expressed in lung, skeletal muscle, liver, kidney, spleen and heart, and moderately in testis. No expression in the brain.
• Sequence:

  MADDQGCIEEQGVEDSANEDSVDAKPDRSSFVPSLFSKKKKNVTMRSIKTTRDRVPTYQYNMNFEKLGKCIIINN
  KNFDKVTGMGVRNGTDKDAEALFKCFRSLGFDVIVYNDCSCAKMQDLLKKASEEDHTNAACFACILLSHGEENVI
  YGKDGVTPIKDLTAHFRGDRCKTLLEKPKLFFIQACRGTELDDGIQADSGPINDTDANPRYKIPVEADFLFAYST
  VPGYYSWRSPGRGSWFVQALCSILEEHGKDLEIMQILTRVNDRVARHFESQSDDPHFHEKKQIPCVVSMLTKELY
  FSQ

• Structural information:
  • Interpro: IPR015471  IPR029030  IPR033139  IPR016129  IPR002398   IPR002138  IPR001309  IPR015917  
  • Prosite: PS01122 PS01121 PS50207 PS50208
  • CDD: cd00032
  • PDB: 1F1J 1GQF 1I4O 1I51 1K86 1K88 1KMC 1MIA 1SHJ 1SHL 2QL5 2QL7 2QL9 2QLB 2QLF 2QLJ 3EDR 3H1P 3IBC 3IBF 3R5K 4FDL 4FEA 4HQ0 4HQR 4JB8 4JJ8 4JR1 4JR2 4LSZ 4ZVO 4ZVP 4ZVQ 4ZVR 4ZVS 4ZVT 4ZVU 5IC6 5K20 5V6U 5V6Z
  • PDBsum: 1F1J 1GQF 1I4O 1I51 1K86 1K88 1KMC 1MIA 1SHJ 1SHL 2QL5 2QL7 2QL9 2QLB 2QLF 2QLJ 3EDR 3H1P 3IBC 3IBF 3R5K 4FDL 4FEA 4HQ0 4HQR 4JB8 4JJ8 4JR1 4JR2 4LSZ 4ZVO 4ZVP 4ZVQ 4ZVR 4ZVS 4ZVT 4ZVU 5IC6 5K20 5V6U 5V6Z
  • DIP: 29973
  • STRING: ENSP00000358327
• Other Databases: GeneCards:  CASP7  Malacards:  CASP7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0006915	apoptotic process	IBA	biological process
GO:0097153	cysteine-type endopeptidase activity involved in apoptotic process	IBA	molecular function
GO:0097194	execution phase of apoptosis	IBA	biological process
GO:0097200	cysteine-type endopeptidase activity involved in execution phase of apoptosis	IBA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0004197	cysteine-type endopeptidase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0008234	cysteine-type peptidase activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0006915	apoptotic process	TAS	biological process
GO:0097194	execution phase of apoptosis	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008233	peptidase activity	IDA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0097200	cysteine-type endopeptidase activity involved in execution phase of apoptosis	IMP	molecular function
GO:0072734	cellular response to staurosporine	IMP	biological process
GO:0006915	apoptotic process	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0006508	proteolysis	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05010	Alzheimer disease
hsa05132	Salmonella infection
hsa05130	Pathogenic Escherichia coli infection
hsa04932	Non-alcoholic fatty liver disease
hsa04210	Apoptosis
hsa04668	TNF signaling pathway
hsa05133	Pertussis
hsa05134	Legionellosis
hsa04215	Apoptosis - multiple species

Diseases

Associated diseases	References
Alzheimer's disease	PMID:12633148
Alzheimer's disease	PMID:26621834
Breast cancer	PMID:23979166
colon cancer	PMID:23979166
lung non-small cell carcinoma	PMID:20661084
Rheumatoid arthritis	PMID:18785314
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq