• Gene id: 3002

Gene Summary

• Gene Symbol: GZMB   Gene   UCSC   Ensembl
• Aliases: C11, CCPI, CGL-1, CGL1, CSP-B, CSPB, CTLA1, CTSGL1, HLP, SECT
• Gene name: granzyme B
• Alternate names: 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,
• Gene location: 14q12 (24634189: 24630953)     Exons: 5     NC_000014.9
• Gene summary(Entrez): 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 g
• OMIM: 123910

Protein Summary

• Protein general information: P10144  
  • Name: Granzyme B (EC 3.4.21.79) (C11) (CTLA 1) (Cathepsin G like 1) (CTSGL1) (Cytotoxic T lymphocyte proteinase 2) (Lymphocyte protease) (Fragmentin 2) (Granzyme 2) (Human lymphocyte protein) (HLP) (SECT) (T cell serine protease 1 3E)
  • Length: 247  
  • Mass: 27716
• Sequence:

  MQPILLLLAFLLLPRADAGEIIGGHEAKPHSRPYMAYLMIWDQKSLKRCGGFLIRDDFVLTAAHCWGSSINVTLG
  AHNIKEQEPTQQFIPVKRPIPHPAYNPKNFSNDIMLLQLERKAKRTRAVQPLRLPSNKAQVKPGQTCSVAGWGQT
  APLGKHSHTLQEVKMTVQEDRKCESDLRHYYDSTIELCVGDPEIKKTSFKGDSGGPLVCNKVAQGIVSYGRNNGM
  PPRACTKVSSFVHWIKKTMKRY

• 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: 1FQ3 1IAU
  • PDBsum: 1FQ3 1IAU
  • STRING: ENSP00000216341
• Other Databases: GeneCards:  GZMB  Malacards:  GZMB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017148	negative regulation of translation	IDA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0008626	granzyme-mediated apoptotic signaling pathway	IBA	biological process
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0019835	cytolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0008236	serine-type peptidase activity	TAS	molecular function
GO:1900740	positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway	TAS	biological process
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0042267	natural killer cell mediated cytotoxicity	IMP	biological process
GO:0006915	apoptotic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0001772	immunological synapse	TAS	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer
hsa04210	Apoptosis
hsa04650	Natural killer cell mediated cytotoxicity
hsa05320	Autoimmune thyroid disease
hsa04940	Type I diabetes mellitus
hsa05332	Graft-versus-host disease
hsa05330	Allograft rejection

Diseases

Associated diseases	References
Bronchiolitis obliterans	PMID:19737140
Chronic obstructive pulmonary disease	PMID:20540777
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)