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GZMA Gene

protein-coding   GIFtS: 64
GCID: GC05P054398

Granzyme A (Granzyme 1, Cytotoxic T-Lymphocyte-Associated...


(Previous symbols: HFSP, CTLA3)
  See GZMA-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Granzyme A (Granzyme 1, Cytotoxic T-Lymphocyte-Associated Serine
Esterase 3)1 2
     fragmentin-12
CTLA31 2 3 5     Granzyme A2
HFSP1 2 3 5     EC 3.4.21.783
CTL Tryptase1 2 3     Fragmentin-13
Granzyme A (Cytotoxic T-Lymphocyte-Associated Serine Esterase-3; Hanukah
Factor Serine Protease)1 2
     Granzyme-13
Cytotoxic T-Lymphocyte Proteinase 12 3     Hanukkah Factor3
H Factor2 3     EC 3.4.218
HF2 3     

External Ids:    HGNC: 47081   Entrez Gene: 30012   Ensembl: ENSG000001456497   OMIM: 1400505   UniProtKB: P125443   

Export aliases for GZMA gene to outside databases

Previous GC identifers: GC05P054561 GC05P055827 GC05P054352 GC05P054414 GC05P054434 GC05P051373


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include protein homodimerization activity and serine-type endopeptidase activity. An important paralog of this gene is GZMH.

UniProtKB/Swiss-Prot: GRAA_HUMAN, P12544
Function: This enzyme is necessary for target cell lysis in cell-mediated immune responses. It cleaves after Lys
or Arg. Cleaves APEX1 after 'Lys-31' and destroys its oxidative repair activity. Involved in apoptosis

Gene Wiki entry for GZMA Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the GZMA gene promoter:
         AML1a   MEF-2   GATA-1   YY1   C/EBPalpha   MEF-2A   FOXJ2 (long isoform)   FOXO4   FOXJ2   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGZMA promoter sequence
   Search Chromatin IP Primers for GZMA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GZMA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q11-q12   Ensembl cytogenetic band:  5q11.2   HGNC cytogenetic band: 5q11-q12

GZMA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GZMA gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P054398:  view genomic region     (about GC identifiers)

Start:
54,398,474 bp from pter      End:
54,406,080 bp from pter
Size:
7,607 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: GRAA_HUMAN, P12544 (See protein sequence)
Recommended Name: Granzyme A precursor  
Size: 262 amino acids; 28999 Da
Subunit: Homodimer; disulfide-linked. Interacts with APEX1
Caution: Exons 1a and 1b of the sequence reported in PubMed:17180578 are of human origin, however exon 2 shows
strong similarity to the rat sequence
3 PDB 3D structures from and Proteopedia for GZMA:
1HF1 (3D)        1OP8 (3D)        1ORF (3D)    
Secondary accessions: A4PHN1 Q6IB36
Alternative promoter usage: 2 isoforms:  P12544-1   P12544-2   

Explore the universe of human proteins at neXtProt for GZMA: NX_P12544

Explore proteomics data for GZMA at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn170
  • 3 DME Specific Peptides for GZMA (P12544)
     GDSGSPL  VLTAAHC  WVLTAAH 


    See GZMA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006135.1  
    ENSEMBL proteins: 
     ENSP00000274306  

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for GZMA

     
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    antibodies-online proteins for GZMA (18 products) 

     
    antibodies-online peptides for GZMA

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    Cloud-Clone Corp. CLIAs for GZMA
    eBioscience ELISAs for GZMA:  
                        Human Granzyme A Platinum ELISA 96 tests
    antibodies-online kits for GZMA (16 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR001314 Peptidase_S1A
     IPR001254 Peptidase_S1
     IPR018114 Peptidase_S1_AS
     IPR009003 Trypsin-like_Pept_dom

    Graphical View of Domain Structure for InterPro Entry P12544

    ProtoNet protein and cluster: P12544

    2 Blocks protein domains:
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature


    UniProtKB/Swiss-Prot: GRAA_HUMAN, P12544
    Similarity: Belongs to the peptidase S1 family. Granzyme subfamily
    Similarity: Contains 1 peptidase S1 domain


    Find genes that share domains with GZMA           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GRAA_HUMAN, P12544
    Function: This enzyme is necessary for target cell lysis in cell-mediated immune responses. It cleaves after Lys
    or Arg. Cleaves APEX1 after 'Lys-31' and destroys its oxidative repair activity. Involved in apoptosis
    Catalytic activity: Hydrolysis of proteins, including fibronectin, type IV collagen and nucleolin. Preferential
    cleavage: -Arg- -Xaa-, -Lys- -Xaa- >> -Phe- -Xaa- in small molecule substrates
    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

         Genatlas biochemistry entry for GZMA:
    cytotoxic T-lymphocyte-associated granule serine protease 3,Hanuka factor,lymphocyte tryptase 1

         Enzyme Numbers (IUBMB): EC 3.4.212 EC 3.4.21.781

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity IDA11331782
    GO:0005515protein binding IPI12524539
    GO:0008236serine-type peptidase activity ----
    GO:0042803protein homodimerization activity IDA12819770
         
    Find genes that share ontologies with GZMA           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gzma):
     hematopoietic system  immune system  mortality/aging  tumorigenesis 

    Find genes that share phenotypes with GZMA           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GZMA: Gzmatm1Ley Gzmatm1Simn

       genOway: Develop your customized and physiologically relevant rodent model for GZMA

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GZMA
    Addgene plasmids for GZMA 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GZMA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GRAA_HUMAN, P12544: Isoform alpha: Secreted. Cytoplasmic granule
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    nucleus5
    plasma membrane5
    lysosome2
    vacuole2
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001772immunological synapse TAS12524539
    GO:0005576extracellular region IEA--
    GO:0005634nucleus TAS11909973

    Find genes that share ontologies with GZMA           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GZMA About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Peptide ligand-binding receptors
    Neuroactive ligand-receptor interaction0.36
    2IL-9 Signaling Pathways
    IL-9 Pathway0.36
    3IL12-mediated signaling events
    IL12-mediated signaling events0.33
    4IL-15 Signaling and its Primary Biological Effects in Different Immune Cell Types
    IL-15 Signaling and its Primary Biological Effects in Different Immune Cell Types0.33
    5Activation of DNA fragmentation factor
    Granzyme-A Pathway0.32


    Find genes that share SuperPaths with GZMA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for GZMA
        IL-15 Signaling and its Primary Biological Effects in Different Immune Cell Types

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GZMA
        IL-9 Pathway
    Granzyme-A Pathway
    Granzyme Pathway

    2 Cell Signaling Technology (CST) Pathways for GZMA
        Apoptosis and Autophagy
    Lymphocyte Signaling

    1 BioSystems Pathway for GZMA
        IL12-mediated signaling events



    1 Kegg Pathway  (Kegg details for GZMA):
        Neuroactive ligand-receptor interaction

        Pathway & Disease-focused RT2 Profiler PCR Array including GZMA: 
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GZMA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for GZMA (P125443 ENSP000002743064) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000237724P081073, ENSP000004063594I2D: score=1 STRING: ENSP00000406359
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0006915apoptotic process TAS12524539
    GO:0006955immune response TAS12524539
    GO:0019835cytolysis IEA--
    GO:0032078negative regulation of endodeoxyribonuclease activity IDA12524539

    Find genes that share ontologies with GZMA           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for GZMA
      Browse compounds at ApexBio 

    Browse Tocris compounds for GZMA (GRAA)

    Selected Novoseek inferred chemical compound relationships for GZMA gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3,4-dichloroisocoumarin 74.4 1 9036942 (1)
    serine 70.5 43 7923921 (2), 8835202 (2), 8288245 (2), 8305526 (1) (see all 28)
    isocoumarin 58.7 1 1998680 (1)
    ddvp 58.6 9 16002202 (4), 16873099 (1), 18063463 (1)
    chromium 33.6 3 16873099 (1), 15622622 (1), 16002202 (1)
    mannose 6-phosphate 30.8 7 8432729 (5)
    rantes 23.7 4 15929698 (2), 17314518 (1), 9495345 (1)
    ionomycin 23.5 1 9538144 (1)
    agarose 0 1 8258716 (1)
    oxygen 0 5 15780992 (1), 15286980 (1), 18485862 (1)



    Find genes that share compounds with GZMA           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GZMA gene: 
    NM_006144.3  

    Unigene Cluster for GZMA:

    Granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)
    Hs.90708  [show with all ESTs]
    Unigene Representative Sequence: BM917804
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000274306(uc003jpm.3)
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat GZMA
      QuantiFast Probe-based Assays in human, mouse, rat GZMA

    Additional mRNA sequence: 

    BC015739.1 CR456968.1 M18737.1 

    5 DOTS entries:

    DT.210372  DT.92443776  DT.92443767  DT.95098368  DT.92443770 

    Selected AceView cDNA sequences (see all 115):

    BG181621 BG190565 CD368966 CA444285 BQ012679 BG743936 BG209144 BG219129 
    CA310197 BG206513 AA283007 AI307784 AW612415 BG187879 BF063535 BG190044 
    BG207531 BG196660 AW665149 BQ053520 BQ010949 AA442902 BE672232 BG200885 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for GZMA    About this scheme

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


    ECgene alternative splicing isoforms for GZMA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GZMA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGTAAAAA
    GZMA Expression
    About this image


    GZMA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Thymus (Hematopoietic System)
             T-Cytotoxic Cells Thymus
     
     Blood (Cardiovascular System)
             T-Cytotoxic Cells Thymus
     
     Kidney (Urinary System)
    GZMA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GZMA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.90708
        Pathway & Disease-focused RT2 Profiler PCR Array including GZMA: 
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat GZMA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GZMA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for GZMA gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gzma1 , 5 granzyme A1, 5 77.78(n)1
    71.25(a)1
      13 (63.93 cM)5
    149381  NM_010370.21  NP_034500.11 
     1130938275 
    chicken
    (Gallus gallus)
    Aves GZMA1 granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated more 62.15(n)
    55.08(a)
      395108  NM_204457.1  NP_989788.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    48(a)
    45(a)
    many → 1
    many → 1
    2(2700978-2709873)
    2(2693812-2698285)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004971881 granzyme A-like 55.12(n)
    45.89(a)
      100497188  XM_002941113.2  XP_002941159.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for GZMA gene
    GZMH2  PRTN32  GZMK2  PRSS572  CTSG2  CFD2  ELANE2  CMA12  
    AZU12  GZMM2  GZMB2  
    Selected SIMAP similar genes for GZMA using alignment to 1 protein entry:     GRAA_HUMAN(see all similar genes):
    GZMK    GZMB    CFD    DF    GZMH    CMA1
    KLK13    KLK14    KLK9    CELA1    CTSG    ELANE
    KLK7    KLK8    CTRB1    CTRB2    CTRL    KLK12

    Find genes that share paralogs with GZMA           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for GZMA
    PGOHUM00000235592


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GZMA (see all 244)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs100789861,2
    C--54333517(+) agggaC/Tgtgaa 1 -- us2k10--------
    rs1822789381,2
    --54333518(+) GGGATA/GTGAAG 1 -- us2k10--------
    rs1409884261,2
    --54333559(+) CTCAAC/TGAAAT 1 -- us2k10--------
    rs1869364951,2
    --54333809(+) TACCTA/GACTTC 1 -- us2k10--------
    rs1502296001,2
    C--54333911(+) ACACTC/GTAAAT 1 -- us2k10--------
    rs1929836791,2
    --54333924(+) GTGACA/CTTTAT 1 -- us2k10--------
    rs1851387021,2
    --54334178(+) CAGGGG/TTCTCA 1 -- us2k10--------
    rs1388120151,2
    --54334319(+) TGTATC/TGGAGA 1 -- us2k10--------
    rs1494982421,2
    --54334320(+) GTATCA/GGAGAC 1 -- us2k10--------
    rs668871821,2
    C--54334521(+) GGGTC-/GGGGGG 1 -- us2k12Minor allele frequency- G:0.25NA CSA 4

    HapMap Linkage Disequilibrium report for GZMA (54398474 - 54406080 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for GZMA:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2503041CNV Deletion19546169
    nsv4833CNV Loss18451855
    nsv830302CNV Gain17160897
    nsv830301CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GZMA
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 140050    OMIM disorders: --

    1 disease for GZMA:    
    About MalaCards
    chediak-higashi syndrome


    Find genes that share disorders with GZMA           About GenesLikeMe

    Selected Novoseek inferred disease relationships for GZMA gene (see all 19)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myositis 27.3 1 7919969 (1)
    sjogrens syndrome 25 2 8030547 (1), 7904795 (1)
    tumors 21.6 15 12847210 (3), 11069717 (2), 8959642 (1), 12428227 (1) (see all 11)
    virus infection 18.8 4 10998317 (1), 8929545 (1), 16208762 (1)
    necrosis 16.3 8 8959642 (1), 12428227 (1), 8517482 (1), 9538144 (1) (see all 8)
    lymphoproliferative disorders 16.1 1 10892713 (1)
    rheumatoid arthritis 15.8 7 7923921 (2), 1731326 (2), 7536415 (1), 10337032 (1) (see all 5)
    cmv infection 15.5 1 15848677 (1)
    hiv infections 11.9 4 10449281 (1), 10716374 (1), 12001057 (1)
    polymyositis 11.8 1 8268727 (1)

    Genetic Association Database (GAD): GZMA
    Human Genome Epidemiology (HuGE) Navigator: GZMA (4 documents)

    Export disorders for GZMA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GZMA gene, integrated from 10 sources (see all 247):
    (articles sorted by number of sources associating them with GZMA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of three serine esterases isolated from human IL-2 activated killer cells. (PubMed id 3262682)1, 2, 3 Hameed A.... Podack E.R. (J. Immunol. 1988)
    2. Cleaving the oxidative repair protein Ape1 enhances cell death mediated by granzyme A. (PubMed id 12524539)1, 2, 9 Fan Z.... Lieberman J. (Nat. Immunol. 2003)
    3. The oligomeric structure of human granzyme A is a determinant of its extended substrate specificity. (PubMed id 12819769)1, 2, 9 Bell J.K....Craik C.S. (Nat. Struct. Biol. 2003)
    4. Crystal structure of the apoptosis-inducing human granzyme A dimer. (PubMed id 12819770)1, 2, 9 Hink-Schauer C....Jenne D.E. (Nat. Struct. Biol. 2003)
    5. Interleukin-9 polymorphism in infants with respiratory syncytial virus infection: an opposite effect in boys and girls. (PubMed id 20503287)1, 4 Schuurhof A....Janssen R. (Pediatr. Pulmonol. 2010)
    6. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (J. Hum. Genet. 2009)
    7. Genetic susceptibility to respiratory syncytial virus bronchiolitis in preterm children is associated with airway remodeling genes and innate immune genes. (PubMed id 19258923)1, 4 Siezen C.L....Janssen R. (Pediatr. Infect. Dis. J. 2009)
    8. Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes. (PubMed id 17703412)1, 4 Janssen R....Hoebee B. (J. Infect. Dis. 2007)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Characterization of granzymes A and B isolated from granules of cloned human cytotoxic T lymphocytes. (PubMed id 3263427)1, 2 Kraehenbuhl O.... Tschopp J. (J. Immunol. 1988)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3001 HGNC: 4708 AceView: GZMA Ensembl:ENSG00000145649 euGenes: HUgn3001
    ECgene: GZMA Kegg: 3001 H-InvDB: GZMA

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GZMA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GZMA Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GZMA gene:
    Search GeneIP for patents involving GZMA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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