Human Gene GZMA (ENST00000274306.7_4) from GENCODE V47lift37
  Description: granzyme A (from RefSeq NM_006144.4)
Gencode Transcript: ENST00000274306.7_4
Gencode Gene: ENSG00000145649.8_7
Transcript (Including UTRs)
   Position: hg19 chr5:54,398,474-54,406,080 Size: 7,607 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr5:54,398,511-54,406,010 Size: 7,500 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:54,398,474-54,406,080)mRNA (may differ from genome)Protein (262 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GRAA_HUMAN
DESCRIPTION: RecName: Full=Granzyme A; EC=3.4.21.78; AltName: Full=CTL tryptase; AltName: Full=Cytotoxic T-lymphocyte proteinase 1; AltName: Full=Fragmentin-1; AltName: Full=Granzyme-1; AltName: Full=Hanukkah factor; Short=H factor; Short=HF; Flags: Precursor;
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.
SUBUNIT: Homodimer; disulfide-linked. Interacts with APEX1.
SUBCELLULAR LOCATION: Isoform alpha: Secreted. Cytoplasmic granule.
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.
SIMILARITY: Belongs to the peptidase S1 family. Granzyme subfamily.
SIMILARITY: Contains 1 peptidase S1 domain.
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.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GZMA
Diseases sorted by gene-association score: smallpox (3), chilblain lupus (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 33.74 RPKM in Spleen
Total median expression: 107.65 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -7.0037-0.189 Picture PostScript Text
3' UTR -1.8070-0.026 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009003 - Pept_cys/ser_Trypsin-like
IPR018114 - Peptidase_S1/S6_AS
IPR001254 - Peptidase_S1_S6
IPR001314 - Peptidase_S1A

Pfam Domains:
PF00089 - Trypsin

SCOP Domains:
50494 - Trypsin-like serine proteases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1HF1 - Model 1OP8 - X-ray MuPIT 1ORF - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P12544
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004252 serine-type endopeptidase activity
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008236 serine-type peptidase activity
GO:0016787 hydrolase activity
GO:0042803 protein homodimerization activity

Biological Process:
GO:0006508 proteolysis
GO:0006915 apoptotic process
GO:0006955 immune response
GO:0019835 cytolysis
GO:0032078 negative regulation of endodeoxyribonuclease activity
GO:0043065 positive regulation of apoptotic process
GO:0043392 negative regulation of DNA binding
GO:0051354 negative regulation of oxidoreductase activity
GO:0051603 proteolysis involved in cellular protein catabolic process

Cellular Component:
GO:0001772 immunological synapse
GO:0005576 extracellular region
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  BC015739 - Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3), mRNA (cDNA clone MGC:23007 IMAGE:4849202), complete cds.
DQ896326 - Synthetic construct Homo sapiens clone IMAGE:100010786; FLH193298.01L; RZPDo839E1068D granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA) gene, encodes complete protein.
DQ893071 - Synthetic construct clone IMAGE:100005701; FLH193302.01X; RZPDo839E1078D granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA) gene, encodes complete protein.
AB528402 - Synthetic construct DNA, clone: pF1KB6337, Homo sapiens GZMA gene for granzyme A, without stop codon, in Flexi system.
CR456968 - Homo sapiens full open reading frame cDNA clone RZPDo834B105D for gene GZMA, granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3); complete cds, incl. stopcodon.
E01396 - cDNA encoding serine protease of human killer cell.
LP880236 - Sequence 40 from Patent WO2017181111.
LP882065 - Sequence 7 from Patent WO2017181079.
LQ882902 - Sequence 51 from Patent WO2018160841.
M18737 - Human Hanukah factor serine protease (HuHF) mRNA, complete cds.
KJ896952 - Synthetic construct Homo sapiens clone ccsbBroadEn_06346 GZMA gene, encodes complete protein.
AB284134 - Homo sapiens GZMA mRNA for granzyme A, partial cds.
JD250599 - Sequence 231623 from Patent EP1572962.
MP202738 - Sequence 49 from Patent WO2019090263.
MB143793 - JP 2019515670-A/4: METHODS FOR MONITORING AND TREATING CANCER.
MB423117 - JP 2019521641-A/4: METHODS FOR MONITORING AND TREATING CANCER.
MP584552 - Sequence 51 from Patent WO2020081767.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_setPathway - Granzyme A mediated Apoptosis Pathway

-  Other Names for This Gene
  Alternate Gene Symbols: A4PHN1, CTLA3, ENST00000274306.1, ENST00000274306.2, ENST00000274306.3, ENST00000274306.4, ENST00000274306.5, ENST00000274306.6, GRAA_HUMAN, GZMA , HFSP, NM_006144, P12544, Q6IB36, uc317jeo.1, uc317jeo.2
UCSC ID: ENST00000274306.7_4
RefSeq Accession: NM_006144.4
Protein: P12544 (aka GRAA_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.