Human Gene GZMA (uc003jpm.3) Description and Page Index
Description: Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA), mRNA. RefSeq Summary (NM_006144): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC015739.1, SRR5189667.281315.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000274306.7/ ENSP00000274306.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## 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
ID:GRAA_HUMAN DESCRIPTION: RecName: Full=Granzyme A; EC=22.214.171.124; 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.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): GZMA CDC HuGE Published Literature: GZMA
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.
ModBase Predicted Comparative 3D Structure on P12544
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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.