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Aliases for GZMA Gene

Aliases for GZMA Gene

  • Granzyme A (Granzyme 1, Cytotoxic T-Lymphocyte-Associated Serine Esterase 3) 2 3
  • CTL Tryptase 2 3 4
  • Granzyme A (Cytotoxic T-Lymphocyte-Associated Serine Esterase-3; Hanukah Factor Serine Protease) 2 3
  • Cytotoxic T-Lymphocyte Proteinase 1 3 4
  • Fragmentin-1 3 4
  • H Factor 3 4
  • CTLA3 3 4
  • HFSP 3 4
  • HF 3 4
  • Hanukah Factor Serine Protease) 6
  • Hanukkah Factor 4
  • EC 3.4.21.78 4
  • Granzyme A 3
  • Granzyme-1 4
  • EC 3.4.21 64

External Ids for GZMA Gene

Previous Symbols for GZMA Gene

  • HFSP
  • CTLA3

Summaries for GZMA Gene

Entrez Gene Summary for GZMA Gene

  • Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here is a T cell- and natural killer cell-specific serine protease that may function as a common component necessary for lysis of target cells by cytotoxic T lymphocytes and natural killer cells. [provided by RefSeq, Jul 2008]

GeneCards Summary for GZMA Gene

GZMA (Granzyme A (Granzyme 1, Cytotoxic T-Lymphocyte-Associated Serine Esterase 3)) is a Protein Coding gene. Diseases associated with GZMA include chediak-higashi syndrome. Among its related pathways are Peptide ligand-binding receptors and Apoptosis and Autophagy. GO annotations related to this gene include protein homodimerization activity and serine-type endopeptidase activity. An important paralog of this gene is ELANE.

UniProtKB/Swiss-Prot for GZMA Gene

  • Abundant protease in the cytosolic granules of cytotoxic T-cells and NK-cells which activates caspase-independent cell death with morphological features of apoptosis when delivered into the target cell through the immunological synapse. It cleaves after Lys or Arg. Cleaves APEX1 after Lys-31 and destroys its oxidative repair activity. Cleaves the nucleosome assembly protein SET after Lys-189, which disrupts its nucleosome assembly activity and allows the SET complex to translocate into the nucleus to nick and degrade the DNA.

Gene Wiki entry for GZMA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GZMA Gene

Genomics for GZMA Gene

Genomic Location for GZMA Gene

Start:
55,102,646 bp from pter
End:
55,110,252 bp from pter
Size:
7,607 bases
Orientation:
Plus strand

Genomic View for GZMA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GZMA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GZMA Gene

Regulatory Elements for GZMA Gene

Proteins for GZMA Gene

  • Protein details for GZMA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12544-GRAA_HUMAN
    Recommended name:
    Granzyme A
    Protein Accession:
    P12544
    Secondary Accessions:
    • A4PHN1
    • Q6IB36

    Protein attributes for GZMA Gene

    Size:
    262 amino acids
    Molecular mass:
    28999 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Interacts with APEX1.

    Three dimensional structures from OCA and Proteopedia for GZMA Gene

    Alternative splice isoforms for GZMA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GZMA Gene

Proteomics data for GZMA Gene at MOPED

Selected DME Specific Peptides for GZMA Gene

Post-translational modifications for GZMA Gene

Other Protein References for GZMA Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for GZMA Gene

UniProtKB/Swiss-Prot:

GRAA_HUMAN
Domain:
  • Contains 1 peptidase S1 domain.:
    • P12544
Family:
  • Belongs to the peptidase S1 family. Granzyme subfamily.:
    • P12544
genes like me logo Genes that share domains with GZMA: view

No data available for Gene Families for GZMA Gene

Function for GZMA Gene

Molecular function for GZMA Gene

GENATLAS Biochemistry: cytotoxic T-lymphocyte-associated granule serine protease 3,Hanuka factor,lymphocyte tryptase 1
UniProtKB/Swiss-Prot CatalyticActivity: Hydrolysis of proteins, including fibronectin, type IV collagen and nucleolin. Preferential cleavage: -Arg- -Xaa-, -Lys- -Xaa- >> -Phe- -Xaa- in small molecule substrates
UniProtKB/Swiss-Prot Function: Abundant protease in the cytosolic granules of cytotoxic T-cells and NK-cells which activates caspase-independent cell death with morphological features of apoptosis when delivered into the target cell through the immunological synapse. It cleaves after Lys or Arg. Cleaves APEX1 after Lys-31 and destroys its oxidative repair activity. Cleaves the nucleosome assembly protein SET after Lys-189, which disrupts its nucleosome assembly activity and allows the SET complex to translocate into the nucleus to nick and degrade the DNA.
UniProtKB/Swiss-Prot Induction: Dexamethasone (DEX) induces expression of isoform beta and represses expression of isoform alpha. The alteration in expression is mediated by binding of glucocorticoid receptor to independent promoters adjacent to the alternative first exons of isoform alpha and isoform beta.

Enzyme Numbers (IUBMB) for GZMA Gene

Gene Ontology (GO) - Molecular Function for GZMA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004252 serine-type endopeptidase activity IDA 11331782
GO:0005515 protein binding IPI 12524539
GO:0008236 serine-type peptidase activity --
GO:0042803 protein homodimerization activity IDA 12819770
genes like me logo Genes that share ontologies with GZMA: view
genes like me logo Genes that share phenotypes with GZMA: view

Animal Models for GZMA Gene

MGI Knock Outs for GZMA:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for GZMA Gene

Localization for GZMA Gene

Subcellular locations from UniProtKB/Swiss-Prot for GZMA Gene

Isoform alpha: Secreted. Cytoplasmic granule.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GZMA Gene COMPARTMENTS Subcellular localization image for GZMA gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 5
lysosome 2
vacuole 2
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GZMA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001772 immunological synapse TAS 12524539
GO:0005576 extracellular region IEA --
GO:0005634 nucleus TAS 11909973
genes like me logo Genes that share ontologies with GZMA: view

Pathways for GZMA Gene

genes like me logo Genes that share pathways with GZMA: view

Pathways by source for GZMA Gene

3 Qiagen pathways for GZMA Gene
2 Cell Signaling Technology pathways for GZMA Gene
1 BioSystems pathway for GZMA Gene
1 KEGG pathway for GZMA Gene

Gene Ontology (GO) - Biological Process for GZMA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis --
GO:0006915 apoptotic process TAS 12524539
GO:0006955 immune response TAS 12524539
GO:0019835 cytolysis IEA --
GO:0032078 negative regulation of endodeoxyribonuclease activity IDA 12524539
genes like me logo Genes that share ontologies with GZMA: view

Compounds for GZMA Gene

(16) Novoseek inferred chemical compound relationships for GZMA Gene

Compound -log(P) Hits PubMed IDs
3,4-dichloroisocoumarin 74.4 1
serine 70.5 31
isocoumarin 58.7 1
ddvp 58.6 6
chromium 33.6 3
genes like me logo Genes that share compounds with GZMA: view

Transcripts for GZMA Gene

mRNA/cDNA for GZMA Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(115) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GZMA Gene

Granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GZMA Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5
SP1:
SP2: -

Relevant External Links for GZMA Gene

GeneLoc Exon Structure for
GZMA
ECgene alternative splicing isoforms for
GZMA

Expression for GZMA Gene

mRNA expression in normal human tissues for GZMA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GZMA Gene

This gene is overexpressed in Whole Blood (28.2) and Spleen (7.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GZMA Gene

SOURCE GeneReport for Unigene cluster for GZMA Gene Hs.90708

genes like me logo Genes that share expressions with GZMA: view

Orthologs for GZMA Gene

This gene was present in the common ancestor of chordates.

Orthologs for GZMA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GZMA 36
  • 99.24 (n)
  • 98.09 (a)
GZMA 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GZMA 36
  • 82.75 (n)
  • 73.36 (a)
GZMA 37
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GZMA 36
  • 81.67 (n)
  • 73.46 (a)
GZMA 37
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gzma 36
  • 77.78 (n)
  • 71.25 (a)
Gzma 16
Gzma 37
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GZMA 37
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gzma 36
  • 78.84 (n)
  • 72.2 (a)
chicken
(Gallus gallus)
Aves GZMA 36
  • 62.15 (n)
  • 55.08 (a)
GZMA 37
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 45 (a)
OneToMany
-- 37
  • 48 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497188 36
  • 55.12 (n)
  • 45.89 (a)
Species with no ortholog for GZMA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GZMA Gene

ENSEMBL:
Gene Tree for GZMA (if available)
TreeFam:
Gene Tree for GZMA (if available)

Paralogs for GZMA Gene

Paralogs for GZMA Gene

Pseudogenes.org Pseudogenes for GZMA Gene

genes like me logo Genes that share paralogs with GZMA: view

Variants for GZMA Gene

Sequence variations from dbSNP and Humsavar for GZMA Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs1051846 -- 55,108,229(+) TGGGG(C/G)AGGAC reference, synonymous-codon
rs2069185 -- 55,102,257(-) AAATT(C/T)TTTCT upstream-variant-2KB
rs2069186 -- 55,102,237(-) CTTGG(A/G)TTATA upstream-variant-2KB
rs2069187 -- 55,102,221(-) ATTAG(C/T)AGGCC upstream-variant-2KB
rs2270627 -- 55,108,225(-) TGCCC(A/C)ACCCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GZMA Gene

Variant ID Type Subtype PubMed ID
nsv830301 CNV Gain 17160897
nsv4833 CNV Loss 18451855
esv2503041 CNV Deletion 19546169
nsv830302 CNV Gain 17160897

Relevant External Links for GZMA Gene

HapMap Linkage Disequilibrium report
GZMA

Disorders for GZMA Gene

(1) MalaCards Diseases for GZMA Gene

Search for GZMA Gene in MalaCards »

(19) Novoseek inferred disease relationships for GZMA Gene

Disease -log(P) Hits PubMed IDs
myositis 27.3 1
sjogrens syndrome 25 2
tumors 21.6 14
virus infection 18.8 3
necrosis 16.3 8

Relevant External Links for GZMA

Genetic Association Database (GAD)
GZMA
Human Genome Epidemiology (HuGE) Navigator
GZMA
genes like me logo Genes that share disorders with GZMA: view

No data available for UniProtKB/Swiss-Prot for GZMA Gene

Publications for GZMA Gene

  1. Granzyme A activates an endoplasmic reticulum-associated caspase- independent nuclease to induce single-stranded DNA nicks. (PMID: 11555662) Beresford P.J. … Lieberman J. (J. Biol. Chem. 2001) 3 4 23
  2. Cleaving the oxidative repair protein Ape1 enhances cell death mediated by granzyme A. (PMID: 12524539) Fan Z. … Lieberman J. (Nat. Immunol. 2003) 3 4 23
  3. The oligomeric structure of human granzyme A is a determinant of its extended substrate specificity. (PMID: 12819769) Bell J.K. … Craik C.S. (Nat. Struct. Biol. 2003) 3 4 23
  4. Crystal structure of the apoptosis-inducing human granzyme A dimer. (PMID: 12819770) Hink-Schauer C. … Jenne D.E. (Nat. Struct. Biol. 2003) 3 4 23
  5. Characterization of three serine esterases isolated from human IL-2 activated killer cells. (PMID: 3262682) Hameed A. … Podack E.R. (J. Immunol. 1988) 2 3 4

Products for GZMA Gene

  • Addgene plasmids for GZMA

Sources for GZMA Gene

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