PRTN3 (proteinase 3)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5657
Gene name Proteinase 3
Gene symbol PRTN3
Synonyms (NCBI Gene)
ACPAAGP7C-ANCACANCAMBNMBTNP-4NP4P29PR-3PR3
Chromosome 19
Chromosome location 19p13.3
miRNA miRNA information provided by mirtarbase database.
6
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (6)
miRTarBase ID miRNA Experiments Reference
MIRT1268885 hsa-miR-342-5p CLIP-seq
MIRT1268886 hsa-miR-4461 CLIP-seq
MIRT1268887 hsa-miR-4651 CLIP-seq
MIRT1268888 hsa-miR-4664-5p CLIP-seq
MIRT1268889 hsa-miR-608 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
SPI1 Unknown 10677505
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity EXP 11389039
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0004252 Function Serine-type endopeptidase activity IDA 28240246
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0004252 Function Serine-type endopeptidase activity IMP 22266279, 23202369
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
177020 9495 ENSG00000196415
Protein Protein information from UniProt database.
Gene miRNA Transcription factors 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.
P24158
Protein name Myeloblastin (EC 3.4.21.76) (AGP7) (C-ANCA antigen) (Leukocyte proteinase 3) (PR-3) (PR3) (Neutrophil proteinase 4) (NP-4) (P29) (Wegener autoantigen)
Protein function Serine protease that degrades elastin, fibronectin, laminin, vitronectin, and collagen types I, III, and IV (in vitro) (PubMed:2033050, PubMed:28240246, PubMed:3198760). By cleaving and activating receptor F2RL1/PAR-2, enhances endothelial cell
PDB 1FUJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00089 Trypsin 28 → 243 Trypsin Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in polymorphonuclear leukocytes (at protein level) (PubMed:2033050, PubMed:3198760, PubMed:7897245). Expressed in neutrophils (at protein level) (PubMed:17244676, PubMed:18462208, PubMed:21193407, PubMed:22266279, PubMed:2824
Sequence
Sequence length 256
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Common Pathway of Fibrin Clot Formation
Other interleukin signaling
Neutrophil degranulation
Antimicrobial peptides
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene miRNA Transcription factors 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 (3)
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
ANTI-NEUTROPHIL ANTIBODY ASSOCIATED VASCULITIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GRANULOMATOSIS WITH POLYANGIITIS — CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (173)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 22210048
★★★★★
★☆☆☆☆
Found in Text Mining only
Aggressive Periodontitis Aggressive Periodontitis BEFREE 25330301
★★★★★
★☆☆☆☆
Found in Text Mining only
alpha 1-Antitrypsin Deficiency Alpha 1-Antitrypsin Deficiency BEFREE 10579117
★★★★★
★☆☆☆☆
Found in Text Mining only
Amnesia Amnesia BEFREE 30326290
★★★★★
★☆☆☆☆
Found in Text Mining only
Angioendotheliomatosis Angioendotheliomatosis BEFREE 27398728
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 27283739
★★★★★
★☆☆☆☆
Found in Text Mining only
Aplastic Anemia Aplastic anemia BEFREE 29467851
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 27696777, 31481105
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthralgia Arthralgia Pubtator 33082707 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 27587881, 27994093, 28028155, 28968865, 29183860, 29341936, 30681271, 30753709, 30810913, 31504979
★★★★★
★☆☆☆☆
Found in Text Mining only