InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: GZMH

Summary

InnateDB Gene

IDBG-4020.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GZMH

Gene Name

granzyme H (cathepsin G-like 2, protein h-CCPX)

Synonyms

CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2

Species

Homo sapiens

Ensembl Gene

ENSG00000100450

Encoded Proteins

IDBP-4022

granzyme H (cathepsin G-like 2, protein h-CCPX)

IDBP-4026

granzyme H (cathepsin G-like 2, protein h-CCPX)

IDBP-600845

granzyme H (cathepsin G-like 2, protein h-CCPX)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

The protein encoded by this gene is a member of the granzyme family. Members of this family are highly conserved serine proteases that eliminate transformed cells and virus-infected cells. This protein, which has chymotrypsin-like activity, has a preference for bulky aromatic amino acids at the P1 position and for acidic residues at the P3' and P4' positions. This protein is reported to be constitutively expressed in NK cells and may play a role in the cytotoxic arm of the innate immune response by inducing target cell death and by directly cleaving substrates in pathogen-infected cells. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
The protein encoded by this gene is a member of the granzyme family. Members of this family are highly conserved serine proteases that eliminate transformed cells and virus-infected cells. This protein, which has chymotrypsin-like activity, has a preference for bulky aromatic amino acids at the P1 position and for acidic residues at the P3\' and P4\' positions. This protein is reported to be constitutively expressed in NK cells and may play a role in the cytotoxic arm of the innate immune response by inducing target cell death and by directly cleaving substrates in pathogen-infected cells. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 14:24606480-24609699

Strand

Reverse strand

Band

q12

Transcripts

ENST00000382548	ENSP00000371988
ENST00000216338	ENSP00000216338
ENST00000557220	ENSP00000450576

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004252	serine-type endopeptidase activity

Biological Process

GO:0006508	proteolysis
GO:0006915	apoptotic process
GO:0019835	cytolysis

Cellular Component

GO:0016020	membrane
GO:0030141	secretory granule

Orthologs

No orthologs found for this gene

Pathways

NETPATH

REACTOME

REACT_147707

Metabolism of Angiotensinogen to Angiotensins pathway

REACT_15428

Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) pathway

REACT_17015

Metabolism of proteins pathway

REACT_160078

Peptide hormone metabolism pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

P20718

TrEMBL

UniProt Splice Variant

Entrez Gene

2999

UniGene

Hs.348264

RefSeq

NM_001270780 NM_001270781 NM_033423

HUGO

HGNC:4710

OMIM

116831

CCDS

CCDS59243 CCDS9632

HPRD

00290

IMGT

EMBL

AL136018 AY232657 AY232658 BC027974 CH471078 J02907 M36118 M57888 M72150

GenPept

AAA03248 AAA03514 AAA74885 AAA76859 AAH27974 AAP70247 AAP70248 EAW66004

RNA Seq Atlas

2999