GZMB granzyme B [Homo sapiens (human)] - Gene

Summary

Official Symbol: GZMBprovided by HGNC
Official Full Name: granzyme Bprovided by HGNC
Primary source: HGNC:HGNC:4709
See related: Ensembl:ENSG00000100453 MIM:123910; AllianceGenome:HGNC:4709
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: C11; HLP; CCPI; CGL1; CSPB; SECT; CGL-1; CSP-B; CTLA1; CTSGL1
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]
Expression: Biased expression in bone marrow (RPKM 19.1), lymph node (RPKM 15.2) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q12

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (24630954..24634190, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (18829837..18833074, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (25100160..25103396, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identifying the association between polymorphisms in the GZMB and IFIH1 genes and psoriasis in Egyptians.
Title: Identifying the association between polymorphisms in the GZMB and IFIH1 genes and psoriasis in Egyptians.
Granzyme B is elevated in esophageal biopsies from children with eosinophilic esophagitis.
Title: Granzyme B is elevated in esophageal biopsies from children with eosinophilic esophagitis.
Molecular and clinicopathological features of granzyme B-negative extranodal NK/T-cell lymphoma.
Title: Molecular and clinicopathological features of granzyme B-negative extranodal NK/T-cell lymphoma.
Does the expression of granzyme B participate in inflammation, fibrosis, and fertility of hydatid cysts?
Title: Does the expression of granzyme B participate in inflammation, fibrosis, and fertility of hydatid cysts?
NK cell-derived extracellular granzyme B drives epithelial ulceration during HSV-2 genital infection.
Title: NK cell-derived extracellular granzyme B drives epithelial ulceration during HSV-2 genital infection.
The mRNA expression and secretion of granzyme B are up-regulated via the histamine H2 receptor in human CD4[+] T cells.
Title: The mRNA expression and secretion of granzyme B are up-regulated via the histamine H2 receptor in human CD4(+) T cells.
Human granzyme B binds Plasmodium falciparum Hsp70-x and mediates antiplasmodial activity in vitro.
Title: Human granzyme B binds Plasmodium falciparum Hsp70-x and mediates antiplasmodial activity in vitro.
A robust gene prognostic index composed of GZMB, IRF1, and TP63 can stratify the risk of two metastatic urothelial carcinoma cohorts based on immune checkpoint blockade therapy.
Title: A robust gene prognostic index composed of GZMB, IRF1, and TP63 can stratify the risk of two metastatic urothelial carcinoma cohorts based on immune checkpoint blockade therapy.
Granzyme B Contributes to Choroidal Neovascularization and Age-Related Macular Degeneration Through Proteolysis of Thrombospondin-1.
Title: Granzyme B Contributes to Choroidal Neovascularization and Age-Related Macular Degeneration Through Proteolysis of Thrombospondin-1.
Clonally expanded, thyrotoxic effector CD8[+] T cells driven by IL-21 contribute to checkpoint inhibitor thyroiditis.
Title: Clonally expanded, thyrotoxic effector CD8(+) T cells driven by IL-21 contribute to checkpoint inhibitor thyroiditis.

Submit: New GeneRIF Correction See all GeneRIFs (262)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat-mediated granzyme B release is dose-dependent in primary human T cells	PubMed
Vif	vif	HIV-1 Vif upregulates the expression of granzyme B (GZMB, granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) in Vif-expression T cells	PubMed
capsid	gag	HIV-1 infected CCR5+ memory CD4+ T cells upregulate granzyme B and HIV-1 CA production and increase the ratio of granzyme B to CA compared to infected CCR5- cells	PubMed
	gag	Unactivated memory CD4+ T cells infected by HIV-1 in the presence of IL-2 and IL-15 alone or IL-6/IL-7/TNF-alpha combination, upregulate granzyme B and HIV-1 CA production	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14S1256 (e-PCR)
- UniSTS:31851

PMC60854P1 (e-PCR)
- UniSTS:273405

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase activity	EXP Inferred from Experiment more info	PubMed
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables serine-type endopeptidase activity	TAS Traceable Author Statement more info	PubMed
enables serine-type peptidase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in granzyme-mediated programmed cell death signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in granzyme-mediated programmed cell death signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in killing of cells of another organism	IEA Inferred from Electronic Annotation more info
involved_in natural killer cell mediated cytotoxicity	IDA Inferred from Direct Assay more info	PubMed
involved_in natural killer cell mediated cytotoxicity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of translation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of establishment of protein localization to mitochondrion	TAS Traceable Author Statement more info
involved_in protein maturation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis involved in protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in pyroptotic inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in pyroptotic inflammatory response	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cytolytic granule	IDA Inferred from Direct Assay more info	PubMed
located_in cytolytic granule lumen	TAS Traceable Author Statement more info
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in immunological synapse	TAS Traceable Author Statement more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: granzyme B

Names: 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

NP_001332940.1

EC 3.4.21.79

NP_004122.2

EC 3.4.21.79

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_028340.1 RefSeqGene

Range

5037..8273

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001346011.2 → NP_001332940.1 granzyme B isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, uses an alternate translation start site, and uses an alternate splice site in the 5' coding region compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus and lacks a predicted signal peptide compared to isoform 1.

Source sequence(s)

AY232654, BX283601, CB528665, HY088535

Consensus CDS

CCDS86381.1

UniProtKB/TrEMBL

J3KQ52, Q6XGZ4

Related

ENSP00000387385.3, ENST00000415355.7
NM_004131.6 → NP_004122.2 granzyme B isoform 1 preproprotein

See identical proteins and their annotated locations for NP_004122.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AY372494, BX283601, CB528665

Consensus CDS

CCDS9633.1

UniProtKB/Swiss-Prot

P10144, Q8N1D2, Q9UCC1

UniProtKB/TrEMBL

Q6XGZ4

Related

ENSP00000216341.4, ENST00000216341.9

Conserved Domains (2) summary

smart00020
Location:20 → 240

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:21 → 243

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

RNA

NR_144343.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AY232655, CB528665, HY088535

Related

ENST00000554242.5