• Gene id: 2999

Gene Summary

• Gene Symbol: GZMH   Gene   UCSC   Ensembl
• Aliases: CCP-X, CGL-2, CSP-C, CTLA1, CTSGL2
• Gene name: granzyme H
• Alternate names: granzyme H, cathepsin G-like 2, protein h-CCPX, cytotoxic T-lymphocyte proteinase, cytotoxic T-lymphocyte-associated serine esterase 1, cytotoxin serine protease-C,
• Gene location: 14q12 (24609762: 24606479)     Exons: 18     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of the peptidase S1 family of serine proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a chymotrypsin-like protea
• OMIM: 116831

Protein Summary

• Protein general information: P20718  
  • Name: Granzyme H (EC 3.4.21. ) (CCP X) (Cathepsin G like 2) (CTSGL2) (Cytotoxic T lymphocyte proteinase) (Cytotoxic serine protease C) (CSP C)
  • Length: 246  
  • Mass: 27315
  • Tissue specificity: Constitutively expressed in NK cells. {ECO
• Sequence:

  MQPFLLLLAFLLTPGAGTEEIIGGHEAKPHSRPYMAFVQFLQEKSRKRCGGILVRKDFVLTAAHCQGSSINVTLG
  AHNIKEQERTQQFIPVKRPIPHPAYNPKNFSNDIMLLQLERKAKWTTAVRPLRLPSSKAQVKPGQLCSVAGWGYV
  SMSTLATTLQEVLLTVQKDCQCERLFHGNYSRATEICVGDPKKTQTGFKGDSGGPLVCKDVAQGILSYGNKKGTP
  PGVYIKVSHFLPWIKRTMKRL

• Structural information:
  • Protein Domains: (21..24-)
    (/note="Peptidase-S1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00274"-)
  • Interpro: IPR009003  IPR001314  IPR001254  IPR018114  IPR033116  
  • Prosite: PS50240 PS00134 PS00135
  • CDD: cd00190
  • PDB: 1LXV 3TJU 3TJV 3TK9 4GAW
  • PDBsum: 1LXV 3TJU 3TJV 3TK9 4GAW
  • STRING: ENSP00000216338
• Other Databases: GeneCards:  GZMH  Malacards:  GZMH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008626	granzyme-mediated apoptotic signaling pathway	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0019835	cytolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0006915	apoptotic process	NAS	biological process
GO:0004252	serine-type endopeptidase activity	NAS	molecular function
GO:0004252	serine-type endopeptidase activity	NAS	molecular function
GO:0006915	apoptotic process	NAS	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)