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GZMA (granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3))

Written2011-09Elena Catalan, Diego Sanchez-Martinez, Julián Pardo
Dpto Bioquimica y Biologia Molecular y Celular, Fac Ciencias, Univ Zaragoza, Spain (EC, DSM, JP); Fundacion Aragon I+D (ARAID), Zaragoza, Spain (JP)

(Note : for Links provided by Atlas : click)

Identity

Alias_namesHFSP
CTLA3
granzyme A (granzyme 1
Other alias
HGNC (Hugo) GZMA
LocusID (NCBI) 3001
Atlas_Id 51130
Location 5q11.2  [Link to chromosome band 5q11]
Location_base_pair Starts at 55102646 and ends at 55110252 bp from pter ( according to hg19-Feb_2009)  [Mapping GZMA.png]
Local_order Size: 7607 bases.
Coordinates: 54398473.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

DNA/RNA

 
  Figure 1. Genomic organization of human GZMA. A, human GZMA cluster. Arrow indicate the direction of transcription. B, representation of the GZMA genetic locus. White: untranslated regions; Blue: leader sequence; Green: mature enzyme. Solid lanes: splicing between the first and second exons. gre: glucocorticoid response element (adapted from Ruike et al., 2007).
Description The GZMA gene, with 7607 bases in length, consists of 5 exons and 4 introns. GZMA gene is located in a gene cluster together with granzyme K (figure 1) (Grossman et al., 2003).
Transcription There are at least two transcripts of human GZMA whose expression is differentially regulated by glucocorticoid (Ruike et al., 2007). These transcripts generate two isoforms, GZMAα and GZMAβ, which have respective first exons: exon 1a and exon 1b (figure 1):
GZMAα (exon 1a): canonical sequence,
GZMAβ (exon 1b): lack aa 1-17; aa 18-23 LLLIPE --> MTKGLR.

Protein

 
  Figure 2. Diagram of the crystal structure of human granzyme A dimer (Bell et al., 2003; Hink-Schauer et al., 2003). The cystein groups involved in disulphide bond-mediated dimer (green) and the three aminoacids forming the catalytic triad (red, blue and yellow) are shown. Representation from PDB (accession code 1OP8) deposited by Hink-Schauer C, Estébanez-Perpiñá E, Kurschus FC, Bode W, Jenne DE. Nat Struct Biol. 2003 Jul;10(7):535-40.
Description Granzyme A is a tryptase (cleave proteins after Lys or Arg residues) expressed mainly in cytotoxic cells (cytotoxic T and Natural Killer cells) (Masson et al., 1986; Simon et al., 1986; Young et al., 1986). Protein is expressed as a preproenzyme (Jenne et al., 1988) containing a signal sequence that mediates targeting of the nascent enzyme to the ER. Cleavage of the signal peptide produces an inactive proenzyme that contains an N-terminal dipeptide that needs to be cleaved to produce an active protease. In the Golgi, a mannose-6-phosphate tag is added for transporting the proenzyme to cytotoxic granules. Within the cytotoxic granule, the N-terminal dipeptide is removed by cathepsin C (dipeptidyl peptidase I) (Pham et al., 1999), producing the active enzyme that is kept inactive at low pH. Native granzyme A is expressed as a dimer (Bell et al., 2003; Hink-Schauer et al., 2003).
Expression Cytotoxic CD8+ T cells, Natural Killer cells, CD4+ T cells, gamma-delta T cells, type II pneumocytes, alveolar macrophages, bronchiolar epithelial cells.
Localisation Cytotoxic granules.
Function Granzyme A is delivered from CTL or NK cytotoxic granules to the cytoplasm of target cell by a mechanism dependent on perforin (Baran et al., 2009; Praper et al., 2011; Thiery et al., 2011).
There are some controversial findings about the physiological function of gzmA.
It has been reported that human GzmA induces perforin-mediated caspase-independent cell death in some tumors cell lines (Hayes et al., 1989; Shi et al., 1992; Beresford et al., 1999; Shresta et al., 1999; Pardo et al., 2004). GzmA translocates to the nucleus and mitochondria where key substrates such as mitochondrial complex I protein, NADH dehydrogenase Fe-S protein 3 (NDUFS3) is cleaved, inducing the production of Radical Oxygen Species (ROS). ROS production induces the activation of the SET complex that translocates into the nucleus in order to repair DNA damage induced by ROS. Once there, granzyme A cleaves components of the endoplasmic reticulum-associated SET complex, releasing the endonuclease NM23H1 that induces single strand nicks in the DNA and ultimately cell death (Lieberman, 2011).
Other authors have reported that the cytotoxic potential of granzyme A is low, but induce expression of pro-inflammatory cytokines in monocytes-like cells by a caspase-1 dependent mechanism (Metkar et al., 2008).
Granzyme A is able to cleave several extracellular substrates like thrombin receptor, fibronectin, collagen IV, proteinase-activated receptor-2, Pro-urokinase plasminogen activator and myelin basic protein (Kramer et al., 1987; Buzza et al., 2006; Hendel et al., 2011).
Granzyme and granzyme B double deficient mice are more susceptible than granzyme B deficient mice to transplanted tumors suggesting a contribution of granzyme A to tumor control in vivo (Pardo et al., 2002; Cao et al., 2007).
Homology Mouse granzyme A;
Rat granzyme A;
Chicken granzyme A;
Fish granzyme A (Common Carp, Atlantic cod, Channel catfish) (Praveen et al., 2006; Praveen et al., 2006; Wernersson et al., 2006).

Mutations

Note Not known.

Implicated in

Note
  
Entity Sepsis (Froelich et al., 2009; Hendel et al., 2011)
Disease Several findings suggest that gzmA contributes to septic shock. Native and recombinant human granzyme A as well as a human NK cell line expressing gzmA induces human adherent peripheral blood mononuclear cells to express proinflammatory cytokines including interleukin-beta interleukin-6, inteleukin-8 and TNF-alpha (Sower et al., 1996; Metkar et al., 2008). Granzyme A deficient mice are more resistant than wild type mice to septic shock induced by LPS (Metkar et al., 2008).
  
  
Entity Rheumatoid arthritis
Prognosis Granzyme A levels are higher in serum and synovial fluid of patients with rheumatoid arthritis (Griffiths et al., 1992; Nordstrom et al., 1992; Kummer et al., 1994; Tak et al., 1994; Muller-Ladner et al., 1995; Spaeny-Dekking et al., 1998; Tak et al., 1999).
  
  
Entity Chronic obstructive pulmonary disease
Prognosis Granzyme A is expressed in type II pneumocytes of patients with severe chronic obstructive pulmonary disease (Vernooy et al., 2007).
  
  
Entity Hypersensitivity pneumonitis
Prognosis Granzyme A is elevated in bronchoalveolar lavage fluid from patients with hypersensitivity pneumonitis (Tremblay et al., 2000).
  
  
Entity Sjögren's syndrome
Prognosis Granzyme A is expressed in salivary glands from patients with Sjögren's syndrome (Alpert et al., 1994).
  
  
Entity Poxvirus infection
Disease Granzyme A deficient mice are more susceptible than wild type mice to mousepox virus (ectromelia) (Mullbacher et al., 1996).
  
  
Entity Herpes virus infection
Disease Granzyme A deficient mice are more susceptible than wild type mice to herpes simplex virus type 1 (HSV-1) (Pereira et al., 2000) and mouse cytomegalovirus (CMV) infection (Riera et al., 2000).
  

Bibliography

Expression of granzyme A in salivary gland biopsies from patients with primary Sjogren's syndrome.
Alpert S, Kang HI, Weissman I, Fox RI.
Arthritis Rheum. 1994 Jul;37(7):1046-54.
PMID 8024614
 
The molecular basis for perforin oligomerization and transmembrane pore assembly.
Baran K, Dunstone M, Chia J, Ciccone A, Browne KA, Clarke CJ, Lukoyanova N, Saibil H, Whisstock JC, Voskoboinik I, Trapani JA.
Immunity. 2009 May;30(5):684-95. Epub 2009 May 14.
PMID 19446473
 
The oligomeric structure of human granzyme A is a determinant of its extended substrate specificity.
Bell JK, Goetz DH, Mahrus S, Harris JL, Fletterick RJ, Craik CS.
Nat Struct Biol. 2003 Jul;10(7):527-34.
PMID 12819769
 
Granzyme A loading induces rapid cytolysis and a novel form of DNA damage independently of caspase activation.
Beresford PJ, Xia Z, Greenberg AH, Lieberman J.
Immunity. 1999 May;10(5):585-94.
PMID 10367904
 
Extracellular granzymes: current perspectives.
Buzza MS, Bird PI.
Biol Chem. 2006 Jul;387(7):827-37. (REVIEW)
PMID 16913832
 
Granzyme B and perforin are important for regulatory T cell-mediated suppression of tumor clearance.
Cao X, Cai SF, Fehniger TA, Song J, Collins LI, Piwnica-Worms DR, Ley TJ.
Immunity. 2007 Oct;27(4):635-46. Epub 2007 Oct 4.
PMID 17919943
 
Granule-associated serine proteases: granzymes might not just be killer proteases.
Froelich CJ, Pardo J, Simon MM.
Trends Immunol. 2009 Mar;30(3):117-23. Epub 2009 Feb 13. (REVIEW)
 
Perforin and granzyme A expression identifying cytolytic lymphocytes in rheumatoid arthritis.
Griffiths GM, Alpert S, Lambert E, McGuire J, Weissman IL.
Proc Natl Acad Sci U S A. 1992 Jan 15;89(2):549-53.
PMID 1731326
 
The orphan granzymes of humans and mice.
Grossman WJ, Revell PA, Lu ZH, Johnson H, Bredemeyer AJ, Ley TJ.
Curr Opin Immunol. 2003 Oct;15(5):544-52.
PMID 14499263
 
Induction of target cell DNA release by the cytotoxic T lymphocyte granule protease granzyme A.
Hayes MP, Berrebi GA, Henkart PA.
J Exp Med. 1989 Sep 1;170(3):933-46.
PMID 2788710
 
Granzymes in age-related cardiovascular and pulmonary diseases.
Hendel A, Hiebert PR, Boivin WA, Williams SJ, Granville DJ.
Cell Death Differ. 2010 Apr;17(4):596-606. Epub 2010 Feb 5. (REVIEW)
PMID 20139894
 
Crystal structure of the apoptosis-inducing human granzyme A dimer.
Hink-Schauer C, Estebanez-Perpina E, Kurschus FC, Bode W, Jenne DE.
Nat Struct Biol. 2003 Jul;10(7):535-40.
PMID 12819770
 
Granzymes, a family of serine proteases released from granules of cytolytic T lymphocytes upon T cell receptor stimulation.
Jenne DE, Tschopp J.
Immunol Rev. 1988 Mar;103:53-71. (REVIEW)
PMID 3292396
 
Are Proteinases Functional Molecules of T Lymphocytes?
Kramer MD, Simon MM
Immunol Today. 1987;8:140-2. (REVIEW)
 
Expression of granzymes A and B in synovial tissue from patients with rheumatoid arthritis and osteoarthritis.
Kummer JA, Tak PP, Brinkman BM, van Tilborg AA, Kamp AM, Verweij CL, Daha MR, Meinders AE, Hack CE, Breedveld FC.
Clin Immunol Immunopathol. 1994 Oct;73(1):88-95.
PMID 7923921
 
Granzyme A activates another way to die.
Lieberman J.
Immunol Rev. 2010 May;235(1):93-104. (REVIEW)
PMID 20536557
 
Identification of granzyme A isolated from cytotoxic T-lymphocyte-granules as one of the proteases encoded by CTL-specific genes.
Masson D, Zamai M, Tschopp J.
FEBS Lett. 1986 Nov 10;208(1):84-8.
PMID 3533635
 
Human and mouse granzyme A induce a proinflammatory cytokine response.
Metkar SS, Menaa C, Pardo J, Wang B, Wallich R, Freudenberg M, Kim S, Raja SM, Shi L, Simon MM, Froelich CJ.
Immunity. 2008 Nov 14;29(5):720-33. Epub 2008 Oct 23.
PMID 18951048
 
Granzyme A is critical for recovery of mice from infection with the natural cytopathic viral pathogen, ectromelia.
Mullbacher A, Ebnet K, Blanden RV, Hla RT, Stehle T, Museteanu C, Simon MM.
Proc Natl Acad Sci U S A. 1996 Jun 11;93(12):5783-7.
PMID 8650169
 
Demonstration of granzyme A and perforin messenger RNA in the synovium of patients with rheumatoid arthritis.
Muller-Ladner U, Kriegsmann J, Tschopp J, Gay RE, Gay S.
Arthritis Rheum. 1995 Apr;38(4):477-84.
PMID 7536415
 
Granzyme A-immunoreactive cells in synovial fluid in reactive and rheumatoid arthritis.
Nordstrom DC, Konttinen YT, Sorsa T, Nykanen P, Pettersson T, Santavirta S, Tschopp J.
Clin Rheumatol. 1992 Dec;11(4):529-32.
PMID 1283120
 
Granzymes are essential for natural killer cell-mediated and perf-facilitated tumor control.
Pardo J, Balkow S, Anel A, Simon MM.
Eur J Immunol. 2002 Oct;32(10):2881-7.
PMID 12355441
 
Apoptotic pathways are selectively activated by granzyme A and/or granzyme B in CTL-mediated target cell lysis.
Pardo J, Bosque A, Brehm R, Wallich R, Naval J, Mullbacher A, Anel A, Simon MM.
J Cell Biol. 2004 Nov 8;167(3):457-68.
PMID 15534000
 
Granzyme A, a noncytolytic component of CD8(+) cell granules, restricts the spread of herpes simplex virus in the peripheral nervous systems of experimentally infected mice.
Pereira RA, Simon MM, Simmons A.
J Virol. 2000 Jan;74(2):1029-32.
PMID 10623769
 
Dipeptidyl peptidase I is required for the processing and activation of granzymes A and B in vivo.
Pham CT, Ley TJ.
Proc Natl Acad Sci U S A. 1999 Jul 20;96(15):8627-32.
PMID 10411926
 
Human perforin employs different avenues to damage membranes.
Praper T, Sonnen A, Viero G, Kladnik A, Froelich CJ, Anderluh G, Dalla Serra M, Gilbert RJ.
J Biol Chem. 2011 Jan 28;286(4):2946-55. Epub 2010 Oct 2.
PMID 20889983
 
Nonspecific cytotoxic cells of teleosts are armed with multiple granzymes and other components of the granule exocytosis pathway.
Praveen K, Leary JH 3rd, Evans DL, Jaso-Friedmann L.
Mol Immunol. 2006 Mar;43(8):1152-62. Epub 2005 Aug 30.
PMID 16137766
 
Murine cytomegalovirus replication in salivary glands is controlled by both perforin and granzymes during acute infection.
Riera L, Gariglio M, Valente G, Mullbacher A, Museteanu C, Landolfo S, Simon MM.
Eur J Immunol. 2000 May;30(5):1350-5.
PMID 10820381
 
Glucocorticoid-induced alternative promoter usage for a novel 5' variant of granzyme A.
Ruike Y, Katsuma S, Hirasawa A, Tsujimoto G.
J Hum Genet. 2007;52(2):172-8. Epub 2006 Dec 19.
PMID 17180578
 
A natural killer cell granule protein that induces DNA fragmentation and apoptosis.
Shi L, Kraut RP, Aebersold R, Greenberg AH.
J Exp Med. 1992 Feb 1;175(2):553-66.
PMID 1732416
 
Granzyme A initiates an alternative pathway for granule-mediated apoptosis.
Shresta S, Graubert TA, Thomas DA, Raptis SZ, Ley TJ.
Immunity. 1999 May;10(5):595-605.
PMID 10367905
 
Purification and characterization of a T cell specific serine proteinase (TSP-1) from cloned cytolytic T lymphocytes.
Simon MM, Hoschutzky H, Fruth U, Simon HG, Kramer MD.
EMBO J. 1986 Dec 1;5(12):3267-74.
PMID 3545816
 
Extracellular activities of human granzymes. I. Granzyme A induces IL6 and IL8 production in fibroblast and epithelial cell lines.
Sower LE, Klimpel GR, Hanna W, Froelich CJ.
Cell Immunol. 1996 Jul 10;171(1):159-63.
PMID 8754861
 
Extracellular granzymes A and B in humans: detection of native species during CTL responses in vitro and in vivo.
Spaeny-Dekking EH, Hanna WL, Wolbink AM, Wever PC, Kummer JA, Swaak AJ, Middeldorp JM, Huisman HG, Froelich CJ, Hack CE.
J Immunol. 1998 Apr 1;160(7):3610-6.
PMID 9531325
 
Granzyme-positive cytotoxic cells are specifically increased in early rheumatoid synovial tissue.
Tak PP, Kummer JA, Hack CE, Daha MR, Smeets TJ, Erkelens GW, Meinders AE, Kluin PM, Breedveld FC.
Arthritis Rheum. 1994 Dec;37(12):1735-43.
PMID 7986219
 
The levels of soluble granzyme A and B are elevated in plasma and synovial fluid of patients with rheumatoid arthritis (RA).
Tak PP, Spaeny-Dekking L, Kraan MC, Breedveld FC, Froelich CJ, Hack CE.
Clin Exp Immunol. 1999 May;116(2):366-70.
PMID 10337032
 
Perforin pores in the endosomal membrane trigger the release of endocytosed granzyme B into the cytosol of target cells.
Thiery J, Keefe D, Boulant S, Boucrot E, Walch M, Martinvalet D, Goping IS, Bleackley RC, Kirchhausen T, Lieberman J.
Nat Immunol. 2011 Jun 19;12(8):770-7. doi: 10.1038/ni.2050.
PMID 21685908
 
Granzyme activity in the inflamed lung is not controlled by endogenous serine proteinase inhibitors.
Tremblay GM, Wolbink AM, Cormier Y, Hack CE.
J Immunol. 2000 Oct 1;165(7):3966-9.
PMID 11034405
 
Increased granzyme A expression in type II pneumocytes of patients with severe chronic obstructive pulmonary disease.
Vernooy JH, Moller GM, van Suylen RJ, van Spijk MP, Cloots RH, Hoet PH, Pennings HJ, Wouters EF.
Am J Respir Crit Care Med. 2007 Mar 1;175(5):464-72. Epub 2006 Nov 30.
PMID 17138956
 
Granzyme-like sequences in bony fish shed light on the emergence of hematopoietic serine proteases during vertebrate evolution.
Wernersson S, Reimer JM, Poorafshar M, Karlson U, Wermenstam N, Bengten E, Wilson M, Pilstrom L, Hellman L.
Dev Comp Immunol. 2006;30(10):901-18. Epub 2005 Dec 27.
PMID 16413608
 
Purification and characterization of a cytolytic pore-forming protein from granules of cloned lymphocytes with natural killer activity.
Young JD, Hengartner H, Podack ER, Cohn ZA.
Cell. 1986 Mar 28;44(6):849-59.
PMID 2420467
 

Citation

This paper should be referenced as such :
Catalan, E ; Sanchez-Martinez, D ; Pardo, J
GZMA (granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3))
Atlas Genet Cytogenet Oncol Haematol. 2012;16(2):123-126.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/GZMAID51130ch5q11.html


External links

Nomenclature
HGNC (Hugo)GZMA   4708
Cards
AtlasGZMAID51130ch5q11
Entrez_Gene (NCBI)GZMA  3001  granzyme A
AliasesCTLA3; HFSP
GeneCards (Weizmann)GZMA
Ensembl hg19 (Hinxton)ENSG00000145649 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145649 [Gene_View]  chr5:55102646-55110252 [Contig_View]  GZMA [Vega]
ICGC DataPortalENSG00000145649
TCGA cBioPortalGZMA
AceView (NCBI)GZMA
Genatlas (Paris)GZMA
WikiGenes3001
SOURCE (Princeton)GZMA
Genetics Home Reference (NIH)GZMA
Genomic and cartography
GoldenPath hg38 (UCSC)GZMA  -     chr5:55102646-55110252 +  5q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GZMA  -     5q11.2   [Description]    (hg19-Feb_2009)
EnsemblGZMA - 5q11.2 [CytoView hg19]  GZMA - 5q11.2 [CytoView hg38]
Mapping of homologs : NCBIGZMA [Mapview hg19]  GZMA [Mapview hg38]
OMIM140050   
Gene and transcription
Genbank (Entrez)AB284134 BC015739 BP330335 CR456968 M18737
RefSeq transcript (Entrez)NM_006144
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GZMA
Cluster EST : UnigeneHs.90708 [ NCBI ]
CGAP (NCI)Hs.90708
Alternative Splicing GalleryENSG00000145649
Gene ExpressionGZMA [ NCBI-GEO ]   GZMA [ EBI - ARRAY_EXPRESS ]   GZMA [ SEEK ]   GZMA [ MEM ]
Gene Expression Viewer (FireBrowse)GZMA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3001
GTEX Portal (Tissue expression)GZMA
Human Protein AtlasENSG00000145649-GZMA [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12544   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP12544  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP12544
Splice isoforms : SwissVarP12544
Catalytic activity : Enzyme3.4.21.78 [ Enzyme-Expasy ]   3.4.21.783.4.21.78 [ IntEnz-EBI ]   3.4.21.78 [ BRENDA ]   3.4.21.78 [ KEGG ]   
PhosPhoSitePlusP12544
Domaine pattern : Prosite (Expaxy)TRYPSIN_DOM (PS50240)    TRYPSIN_HIS (PS00134)    TRYPSIN_SER (PS00135)   
Domains : Interpro (EBI)Peptidase_S1_PA    Peptidase_S1A    Trypsin_dom    TRYPSIN_HIS    TRYPSIN_SER   
Domain families : Pfam (Sanger)Trypsin (PF00089)   
Domain families : Pfam (NCBI)pfam00089   
Domain families : Smart (EMBL)Tryp_SPc (SM00020)  
Conserved Domain (NCBI)GZMA
DMDM Disease mutations3001
Blocks (Seattle)GZMA
PDB (SRS)1HF1    1OP8    1ORF   
PDB (PDBSum)1HF1    1OP8    1ORF   
PDB (IMB)1HF1    1OP8    1ORF   
PDB (RSDB)1HF1    1OP8    1ORF   
Structural Biology KnowledgeBase1HF1    1OP8    1ORF   
SCOP (Structural Classification of Proteins)1HF1    1OP8    1ORF   
CATH (Classification of proteins structures)1HF1    1OP8    1ORF   
SuperfamilyP12544
Human Protein Atlas [tissue]ENSG00000145649-GZMA [tissue]
Peptide AtlasP12544
HPRD00771
IPIIPI00024657   IPI00954888   
Protein Interaction databases
DIP (DOE-UCLA)P12544
IntAct (EBI)P12544
FunCoupENSG00000145649
BioGRIDGZMA
STRING (EMBL)GZMA
ZODIACGZMA
Ontologies - Pathways
QuickGOP12544
Ontology : AmiGOimmunological synapse  serine-type endopeptidase activity  protein binding  extracellular region  nucleus  apoptotic process  immune response  cytolysis  negative regulation of endodeoxyribonuclease activity  protein homodimerization activity  positive regulation of apoptotic process  negative regulation of DNA binding  negative regulation of oxidoreductase activity  proteolysis involved in cellular protein catabolic process  
Ontology : EGO-EBIimmunological synapse  serine-type endopeptidase activity  protein binding  extracellular region  nucleus  apoptotic process  immune response  cytolysis  negative regulation of endodeoxyribonuclease activity  protein homodimerization activity  positive regulation of apoptotic process  negative regulation of DNA binding  negative regulation of oxidoreductase activity  proteolysis involved in cellular protein catabolic process  
Pathways : BIOCARTAGranzyme A mediated Apoptosis Pathway [Genes]   
Pathways : KEGGNeuroactive ligand-receptor interaction   
NDEx NetworkGZMA
Atlas of Cancer Signalling NetworkGZMA
Wikipedia pathwaysGZMA
Orthology - Evolution
OrthoDB3001
GeneTree (enSembl)ENSG00000145649
Phylogenetic Trees/Animal Genes : TreeFamGZMA
HOVERGENP12544
HOGENOMP12544
Homologs : HomoloGeneGZMA
Homology/Alignments : Family Browser (UCSC)GZMA
Gene fusions - Rearrangements
Fusion : QuiverGZMA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGZMA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GZMA
dbVarGZMA
ClinVarGZMA
1000_GenomesGZMA 
Exome Variant ServerGZMA
ExAC (Exome Aggregation Consortium)ENSG00000145649
GNOMAD BrowserENSG00000145649
Genetic variants : HAPMAP3001
Genomic Variants (DGV)GZMA [DGVbeta]
DECIPHERGZMA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGZMA 
Mutations
ICGC Data PortalGZMA 
TCGA Data PortalGZMA 
Broad Tumor PortalGZMA
OASIS PortalGZMA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGZMA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGZMA
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GZMA
DgiDB (Drug Gene Interaction Database)GZMA
DoCM (Curated mutations)GZMA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GZMA (select a term)
intoGenGZMA
NCG5 (London)GZMA
Cancer3DGZMA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM140050   
Orphanet
DisGeNETGZMA
MedgenGZMA
Genetic Testing Registry GZMA
NextProtP12544 [Medical]
TSGene3001
GENETestsGZMA
Target ValidationGZMA
Huge Navigator GZMA [HugePedia]
snp3D : Map Gene to Disease3001
BioCentury BCIQGZMA
ClinGenGZMA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3001
Chemical/Pharm GKB GenePA29086
Clinical trialGZMA
Miscellaneous
canSAR (ICR)GZMA (select the gene name)
Probes
Litterature
PubMed65 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGZMA
EVEXGZMA
GoPubMedGZMA
iHOPGZMA
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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