GZMB

Gene Information
 
Gene Symbol
GZMB
 
Aliases
C11, CCPI, CGL-1, CGL1, CSP-B, CSPB, CTLA1, CTSGL1, HLP, SECT
 
Entrez Gene ID
 
Gene Name
Granzyme B
 
Chromosomal Location
14q12
 
HGNC ID
 
Summary
This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Expression of this gene may be elevated in human patients with cardiac fibrosis. [provided by RefSeq, Sep 2016]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0006915 Biological process Apoptotic process TAS 12524539
GO:0008626 Biological process Granzyme-mediated apoptotic signaling pathway IBA 21873635
GO:0042267 Biological process Natural killer cell mediated cytotoxicity IMP 21795594
GO:0001772 Cellular component Immunological synapse TAS 12524539
GO:0005634 Cellular component Nucleus TAS 11909973
Protein Information
 
Protein Name
Granzyme B, T-cell serine protease 1-3E, cathepsin G-like 1, cytotoxic T-lymphocyte proteinase 2, cytotoxic serine protease B, fragmentin 2, granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1), human lymphocyte protein
 
Function
This enzyme is necessary for target cell lysis in cell-mediated immune responses. It cleaves after Asp. Seems to be linked to an activation cascade of caspases (aspartate-specific cysteine proteases) responsible for apoptosis execution. Cleaves caspase-3, -7, -9 and 10 to give rise to active enzymes mediating apoptosis
 
Refseq Proteins
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF00089 Trypsin
Pathways
 
KEGG
 
Reactome
 

Apoptosis
Natural killer cell mediated cytotoxicity
Type I diabetes mellitus
Transcriptional misregulation in cancer
Autoimmune thyroid disease
Allograft rejection
Graft-versus-host disease

 

Activation, myristolyation of BID and translocation to mitochondria

Interactions
 
STRING MINT IntAct
ENSP00000297679 Q9H2F3
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Digestive System Diseases
Hepatitis
Endocrine System Diseases
PCOS
Neoplasms
Breast Cancer
Psychiatric/Brain disorders
Autistic Disorder
Skin and Connective Tissue Diseases
Vitiligo
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
PRF1 
PCOS, cardiovascular diseases, subclinical atherosclerosis, insulin resistance, dyslipidemia, obesity, type 2 diabetes, inflammation 
 
Amsterdam ESHRE/ASRM proposal and Rotterdam criteria 
Related 
83 PCOS patients and 89 control women 
Increased levels of serum granzyme-B are independently associated with insulin resistance and also with increased CV risk in adolescent polycystic ovary syndrome patients 

| © 2019, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412