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    GZMB granzyme B [ Homo sapiens (human) ]

    Gene ID: 3002, updated on 7-May-2017
    Official Symbol
    GZMBprovided by HGNC
    Official Full Name
    granzyme Bprovided by HGNC
    Primary source
    HGNC:HGNC:4709
    See related
    Ensembl:ENSG00000100453 MIM:123910; Vega:OTTHUMG00000029369
    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]
    Orthologs
    Location:
    14q12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (24630954..24634226, 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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    • Activation, myristolyation of BID and translocation to mitochondria, organism-specific biosystem (from REACTOME)
      Activation, myristolyation of BID and translocation to mitochondria, organism-specific biosystemBID may promote cell death by activating BAX and BAK while inactivating anti-apoptotic proteins. The engagement of cell surface receptors activates the caspase-8, a heterodimer, that cleaves BID in i...
    • Allograft Rejection, organism-specific biosystem (from WikiPathways)
      Allograft Rejection, organism-specific biosystemThis pathway illustrates molecular interactions involved in the fundamental adaptive immune response for allograft destruction. This pathway was adapted in large part from the KEGG pathway http://www...
    • Allograft rejection, organism-specific biosystem (from KEGG)
      Allograft rejection, organism-specific biosystemAllograft rejection is the consequence of the recipient's alloimmune response to nonself antigens expressed by donor tissues. After transplantation of organ allografts, there are two pathways of anti...
    • Allograft rejection, conserved biosystem (from KEGG)
      Allograft rejection, conserved biosystemAllograft rejection is the consequence of the recipient's alloimmune response to nonself antigens expressed by donor tissues. After transplantation of organ allografts, there are two pathways of anti...
    • Apoptosis, organism-specific biosystem (from KEGG)
      Apoptosis, organism-specific biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
    • Apoptosis, organism-specific biosystem (from WikiPathways)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Apoptosis, conserved biosystem (from KEGG)
      Apoptosis, conserved biosystemApoptosis is a genetically programmed process for the elimination of damaged or redundant cells by activation of caspases (aspartate-specific cysteine proteases). The onset of apoptosis is controlled...
    • Apoptosis, organism-specific biosystem (from REACTOME)
      Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
    • Autoimmune thyroid disease, organism-specific biosystem (from KEGG)
      Autoimmune thyroid disease, organism-specific biosystemThe classification of autoimmune throid disease (AITD) includes Hashimoto's thyroiditis (HT) or chronic autoimmune thyroiditis and its variants, Graves' disease (GD) and autoimmune atrophic thyroidi...
    • Autoimmune thyroid disease, conserved biosystem (from KEGG)
      Autoimmune thyroid disease, conserved biosystemThe classification of autoimmune throid disease (AITD) includes Hashimoto's thyroiditis (HT) or chronic autoimmune thyroiditis and its variants, Graves' disease (GD) and autoimmune atrophic thyroidi...
    • Caspase cascade in apoptosis, organism-specific biosystem (from Pathway Interaction Database)
      Caspase cascade in apoptosis, organism-specific biosystem
      Caspase cascade in apoptosis
    • Downstream signaling in naive CD8+ T cells, organism-specific biosystem (from Pathway Interaction Database)
      Downstream signaling in naive CD8+ T cells, organism-specific biosystem
      Downstream signaling in naive CD8+ T cells
    • Graft-versus-host disease, organism-specific biosystem (from KEGG)
      Graft-versus-host disease, organism-specific biosystemGraft-versus-host disease (GVHD) is a lethal complication of allogeneic hematopoietic stem cell transplantation (HSCT) where immunocompetent donor T cells attack the genetically disparate host cells....
    • Graft-versus-host disease, conserved biosystem (from KEGG)
      Graft-versus-host disease, conserved biosystemGraft-versus-host disease (GVHD) is a lethal complication of allogeneic hematopoietic stem cell transplantation (HSCT) where immunocompetent donor T cells attack the genetically disparate host cells....
    • Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex, organism-specific biosystem (from WikiPathways)
      Hematopoietic Stem Cell Gene Regulation by GABP alpha/beta Complex, organism-specific biosystemGABP alpha/beta complex mediates the maintenance of hematopoietic stem cells (HSCs) through control of proteins necessary for epigenetic modification and transcription regulation. The activation of k...
    • IL12-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL12-mediated signaling events, organism-specific biosystem
      IL12-mediated signaling events
    • Intrinsic Pathway for Apoptosis, organism-specific biosystem (from REACTOME)
      Intrinsic Pathway for Apoptosis, organism-specific biosystemThe intrinsic (Bcl-2 inhibitable or mitochondrial) pathway of apoptosis functions in response to various types of intracellular stress including growth factor withdrawal, DNA damage, unfolding stress...
    • NOTCH2 intracellular domain regulates transcription, organism-specific biosystem (from REACTOME)
      NOTCH2 intracellular domain regulates transcription, organism-specific biosystemIn the nucleus, NICD2 forms a complex with RBPJ (CBF1, CSL) and MAML (mastermind). NICD2:RBPJ:MAML complex activates transcription from RBPJ-binding promoter elements (RBEs) (Wu et al. 2000). Besides...
    • Natural killer cell mediated cytotoxicity, organism-specific biosystem (from KEGG)
      Natural killer cell mediated cytotoxicity, organism-specific biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...
    • Natural killer cell mediated cytotoxicity, conserved biosystem (from KEGG)
      Natural killer cell mediated cytotoxicity, conserved biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...
    • Oxidative phosphorylation, organism-specific biosystem (from WikiPathways)
      Oxidative phosphorylation, organism-specific biosystem
      Oxidative phosphorylation
    • Programmed Cell Death, organism-specific biosystem (from REACTOME)
      Programmed Cell Death, organism-specific biosystemCell death is a fundamental cellular response that has a crucial role in shaping our bodies during development and in regulating tissue homeostasis by eliminating unwanted cells. There are a number o...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
    • Signaling by NOTCH2, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH2, organism-specific biosystemNOTCH2 is activated by binding Delta-like and Jagged ligands (DLL/JAG) expressed in trans on neighboring cells (Shimizu et al. 1999, Shimizu et al. 2000, Hicks et al. 2000, Ji et al. 2004). In trans ...
    • Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
      Transcriptional misregulation in cancer, organism-specific biosystem
      Transcriptional misregulation in cancer
    • Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
      Transcriptional misregulation in cancer, conserved biosystem
      Transcriptional misregulation in cancer
    • Type I diabetes mellitus, organism-specific biosystem (from KEGG)
      Type I diabetes mellitus, organism-specific biosystemType I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-pre...
    • Type I diabetes mellitus, conserved biosystem (from KEGG)
      Type I diabetes mellitus, conserved biosystemType I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-pre...
    Products Interactant Other Gene Complex Source Pubs Description

    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 
    Process Evidence Code Pubs
    apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    cytolysis IEA
    Inferred from Electronic Annotation
    more info
     
    natural killer cell mediated cytotoxicity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway TAS
    Traceable Author Statement
    more info
     
    protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    immunological synapse TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    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_004122.2
    XP_011534987.1

    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
      4958..8273
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001346011.1NP_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
      UniProtKB/TrEMBL
      J3KQ52, Q6XGZ4
    2. NM_004131.5NP_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, HY088535
      Consensus CDS
      CCDS9633.1
      UniProtKB/Swiss-Prot
      P10144
      UniProtKB/TrEMBL
      Q67BC3
      Related
      ENSP00000216341.4, OTTHUMP00000178755, ENST00000216341.8, OTTHUMT00000276540
      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_144343.1 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

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      24630954..24634226 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536685.2XP_011534987.1  granzyme B isoform X1

      Related
      ENSP00000387385.3, OTTHUMP00000228682, ENST00000415355.7, OTTHUMT00000382290
      Conserved Domains (2) summary
      smart00020
      Location:8228
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:9231
      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 ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      25099053..25102325 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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