GZMA (granzyme A)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3001
Gene name Granzyme A
Gene symbol GZMA
Synonyms (NCBI Gene)
CTLA3HFSP
Chromosome 5
Chromosome location 5q11.2
Summary 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 peptid
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (32)
GO ID Ontology Definition Evidence Reference
GO:0001772 Component Immunological synapse TAS 12524539
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0004252 Function Serine-type endopeptidase activity IDA 11331782, 12819770, 32299851, 34022140, 36899106
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005515 Function Protein binding IPI 12524539
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
140050 4708 ENSG00000145649
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P12544
Protein name Granzyme A (EC 3.4.21.78) (CTL tryptase) (Cytotoxic T-lymphocyte proteinase 1) (Fragmentin-1) (Granzyme-1) (Hanukkah factor) (H factor) (HF)
Protein function Abundant protease in the cytosolic granules of cytotoxic T-cells and NK-cells which activates caspase-independent pyroptosis when delivered into the target cell through the immunological synapse (PubMed:12819770, PubMed:32299851, PubMed:3257574,
PDB 1OP8 , 1ORF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00089 Trypsin 29 → 254 Trypsin Domain
Sequence
Sequence length 262
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Neuroactive ligand-receptor interaction  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
LIVER CIRRHOSIS, EXPERIMENTAL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (70)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute encephalopathy Encephalopathy BEFREE 31709864
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 17310274
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 17310274
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 27598995, 28356507
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 31677365 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 1580335, 1731326, 33407587, 34484236, 36973646 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis, Psoriatic Psoriatic Arthritis BEFREE 31677365
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 19127215 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 19162554 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome Autoimmune lymphoproliferative disorder Pubtator 17724145 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only