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Aliases for GZMA Gene

Aliases for GZMA Gene

  • Granzyme A 2 3 5
  • CTL Tryptase 2 3 4
  • Granzyme A (Granzyme 1, Cytotoxic T-Lymphocyte-Associated Serine Esterase 3) 2 3
  • Cytotoxic T-Lymphocyte-Associated Serine Esterase-3 2 3
  • Cytotoxic T-Lymphocyte Proteinase 1 3 4
  • Hanukah Factor Serine Protease) 2 3
  • Fragmentin-1 3 4
  • Granzyme 1 2 3
  • H Factor 3 4
  • CTLA3 3 4
  • HFSP 3 4
  • HF 3 4
  • Granzyme A (Cytotoxic T-Lymphocyte-Associated Serine Esterase-3; Hanukah Factor Serine Protease) 3
  • Hanukkah Factor 4
  • EC 3.4.21.78 4
  • Granzyme-1 4
  • EC 3.4.21 56

External Ids for GZMA Gene

Previous HGNC Symbols for GZMA Gene

  • HFSP
  • CTLA3

Previous GeneCards Identifiers for GZMA Gene

  • GC05P054561
  • GC05P055827
  • GC05P054352
  • GC05P054414
  • GC05P054434
  • GC05P051373
  • GC05P054398

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) is a Protein Coding gene. Diseases associated with GZMA include Smallpox and Chilblain Lupus 1. Among its related pathways are Granzyme Pathway and Common Cytokine Receptor Gamma-Chain Family Signaling Pathways. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and serine-type peptidase activity. An important paralog of this gene is GZMK.

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

Additional gene information for GZMA Gene

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

Genomics for GZMA Gene

GeneHancer (GH) Regulatory Elements for GZMA Gene

Promoters and enhancers for GZMA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I055101 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 550.8 -0.5 -503 1.8 PKNOX1 RUNX3 GZMA CDC20B GZMAP1
GH05I055103 Enhancer 0.2 ENCODE 550.8 +1.5 1535 1.4 GZMA GPX8
GH05I054984 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 10.6 -116.8 -116848 2.1 ZNF76 BMI1 ZNF2 ZNF335 ZNF366 SCRT2 FOS REST ZEB2 PRDM6 ESM1 ENSG00000249016 GZMA GZMK ENSG00000240535 GPX8
GH05I055146 Enhancer 0.9 Ensembl ENCODE 11.8 +44.1 44075 0.2 ELF3 CTCF RB1 ETV1 RAD21 RFX5 HSF1 ZNF143 SMC3 ZNF444 GZMA LOC100130990 ENSG00000249016 LOC105378973 CCNO GPX8 CDC20B
GH05I055036 Enhancer 0.7 Ensembl ENCODE 11.2 -65.2 -65175 2.7 CTCF MAFF ZNF316 MAFG MAFK EMSY GZMA ENSG00000249016 GPX8 CDC20B GC05P055041 ENSG00000240535 GZMK
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GZMA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GZMA gene promoter:

Genomic Locations for GZMA Gene

Genomic Locations for GZMA Gene
chr5:55,102,646-55,110,252
(GRCh38/hg38)
Size:
7,607 bases
Orientation:
Plus strand
chr5:54,398,474-54,406,080
(GRCh37/hg19)

Genomic View for GZMA Gene

Genes around GZMA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GZMA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GZMA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Selected DME Specific Peptides for GZMA Gene

P12544:
  • VLTAAHC
  • WVLTAAH
  • GDSGSPL

Post-translational modifications for GZMA Gene

  • Glycosylation at isoforms=2170
  • Modification sites at PhosphoSitePlus

Other Protein References for GZMA Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for GZMA Gene

Gene Families for GZMA Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for GZMA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P12544

UniProtKB/Swiss-Prot:

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

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:0004252 serine-type endopeptidase activity IDA 11331782
GO:0005515 protein binding IPI 12524539
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
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:

Clone Products

  • Addgene plasmids for GZMA

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GZMA gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 2
lysosome 2
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 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,IEA 11909973
genes like me logo Genes that share ontologies with GZMA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GZMA Gene

Pathways & Interactions for GZMA Gene

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

Pathways by source for GZMA Gene

1 BioSystems pathway for GZMA Gene
1 KEGG pathway for GZMA Gene
1 R&D Systems pathway for GZMA Gene
3 Qiagen pathways for GZMA Gene
2 Cell Signaling Technology pathways for GZMA Gene

SIGNOR curated interactions for GZMA Gene

Inactivates:

Gene Ontology (GO) - Biological Process for GZMA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
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

Drugs & Compounds for GZMA Gene

(10) Drugs for GZMA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for GZMA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Clone Products

  • Addgene plasmids for GZMA

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x28.2) and Spleen (x7.5).

Protein differential expression in normal tissues from HIPED for GZMA Gene

This gene is overexpressed in NK cells (40.0), Tlymphocyte (9.7), and CD8 Tcells (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GZMA Gene



Protein tissue co-expression partners for GZMA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GZMA Gene:

GZMA

SOURCE GeneReport for Unigene cluster for GZMA Gene:

Hs.90708

Evidence on tissue expression from TISSUES for GZMA Gene

  • Blood(4.6)
  • Liver(4.3)
  • Spleen(2.5)
  • Lymph node(2.3)
  • Lung(2)
genes like me logo Genes that share expression patterns with GZMA: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GZMA Gene

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 33 34
  • 99.24 (n)
cow
(Bos Taurus)
Mammalia GZMA 33 34
  • 82.75 (n)
dog
(Canis familiaris)
Mammalia GZMA 33 34
  • 81.67 (n)
rat
(Rattus norvegicus)
Mammalia Gzma 33
  • 78.84 (n)
mouse
(Mus musculus)
Mammalia Gzma 33 16 34
  • 77.78 (n)
oppossum
(Monodelphis domestica)
Mammalia GZMA 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves GZMA 33 34
  • 62.15 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 48 (a)
OneToMany
-- 34
  • 45 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497188 33
  • 55.12 (n)
Species where no ortholog for GZMA was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000055951 -- 55,102,264(+) G/T upstream_transcript_variant
rs1000166521 -- 55,103,610(+) G/A intron_variant
rs1001078172 -- 55,105,041(+) G/A intron_variant
rs1001683111 -- 55,106,707(+) C/T intron_variant
rs1002112733 -- 55,106,445(+) C/T intron_variant

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

Variant ID Type Subtype PubMed ID
esv2503041 CNV deletion 19546169
nsv1117557 CNV deletion 24896259
nsv4833 CNV deletion 18451855
nsv830301 CNV gain 17160897
nsv830302 CNV gain 17160897
nsv956462 CNV deletion 24416366

Variation tolerance for GZMA Gene

Residual Variation Intolerance Score: 87.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.94; 49.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GZMA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GZMA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GZMA Gene

Disorders for GZMA Gene

MalaCards: The human disease database

(2) MalaCards diseases for GZMA Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
smallpox
  • ordinary smallpox
chilblain lupus 1
  • chbl1
- elite association - COSMIC cancer census association via MalaCards
Search GZMA in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GZMA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GZMA: view

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

Publications for GZMA Gene

  1. Glucocorticoid-induced alternative promoter usage for a novel 5' variant of granzyme A. (PMID: 17180578) Ruike Y … Tsujimoto G (Journal of human genetics 2007) 3 4 22 58
  2. Cleaving the oxidative repair protein Ape1 enhances cell death mediated by granzyme A. (PMID: 12524539) Fan Z … Lieberman J (Nature immunology 2003) 3 4 22 58
  3. The oligomeric structure of human granzyme A is a determinant of its extended substrate specificity. (PMID: 12819769) Bell JK … Craik CS (Nature structural biology 2003) 3 4 22 58
  4. Crystal structure of the apoptosis-inducing human granzyme A dimer. (PMID: 12819770) Hink-Schauer C … Jenne DE (Nature structural biology 2003) 3 4 22 58
  5. Granzyme A activates an endoplasmic reticulum-associated caspase-independent nuclease to induce single-stranded DNA nicks. (PMID: 11555662) Beresford PJ … Lieberman J (The Journal of biological chemistry 2001) 3 4 22 58

Products for GZMA Gene

  • Addgene plasmids for GZMA

Sources for GZMA Gene

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