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GZMB granzyme B [ Homo sapiens (human) ]

Gene ID: 3002, updated on 13-Dec-2020

Summary

Official Symbol
GZMBprovided by HGNC
Official Full Name
granzyme Bprovided by HGNC
Primary source
HGNC:HGNC:4709
See related
Ensembl:ENSG00000100453 MIM:123910
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
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Genomic context

See GZMB in Genome Data Viewer
Location:
14q12
Exon count:
5
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (24630954..24634190, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (25100160..25103490, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene cathepsin G Neighboring gene uncharacterized LOC107984667 Neighboring gene uncharacterized LOC105370413 Neighboring gene granzyme H Neighboring gene syntaxin binding protein 6

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
GeneReviews: Not available

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
serine-type endopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
serine-type peptidase activity TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
immunological synapse TAS
Traceable Author Statement
more info
PubMed 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane HDA PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 

General protein information

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
NP_004122.2

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

  1. NG_028340.1 RefSeqGene

    Range
    5037..8273
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001346011.2NP_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
  2. NM_004131.6NP_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
    UniProtKB/TrEMBL
    Q67BC3
    Related
    ENSP00000216341.4, ENST00000216341.9
    Conserved Domains (2) summary
    smart00020
    Location:20240
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:21243
    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

  1. 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    24630954..24634190 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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