PRTN3 (proteinase 3)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5657
Gene name Gene Name - the full gene name approved by the HGNC.
Proteinase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PRTN3
Synonyms (NCBI Gene) Gene synonyms aliases
ACPA, AGP7, C-ANCA, CANCA, MBN, MBT, NP-4, NP4, P29, PR-3, PR3
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
miRNA miRNA information provided by mirtarbase database.
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
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
SPI1 Unknown 10677505
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 21873635
GO:0004252 Function Serine-type endopeptidase activity IDA 28240246
GO:0004252 Function Serine-type endopeptidase activity IMP 22266279, 23202369
GO:0005102 Function Signaling receptor binding IPI 17244676
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
177020 9495 ENSG00000196415
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal
Disease term Disease name dbSNP ID References
Diabetes insipidus Diabetes Insipidus rs781942628, rs104894747, rs104894748, rs104894749, rs104894750, rs28935496, rs2147483647, rs104894751, rs104894752, rs104894753, rs104894754, rs104894755, rs1569545523, rs104894756, rs104894757
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Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Hypertension Hypertensive disease rs13306026
Pulmonary fibrosis Pulmonary Fibrosis rs121918666, rs199422300, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899
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Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease ClinVar
Otitis media Chronic otitis media ClinVar
Pancreatitis Pancreatitis ClinVar
Show/Hide Text Mining Associations (83)
Associations from Text Mining
Disease Name Relationship Type References
alpha 1 Antitrypsin Deficiency Associate 22936713, 23744167, 34360796, 38087060, 8315946
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis Associate 10337034, 10444278, 10498622, 11023517, 11115080, 11737080, 12124874, 15149330, 16014030, 1688612, 17446240, 17966040, 18596726, 20456416, 20491791
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Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis Stimulate 10691933, 16792675
Anti plasmin deficiency congenital Inhibit 10337034
Arthralgia Associate 33082707
Arthritis Associate 33082707, 36159862
Arthritis Rheumatoid Associate 18050209, 18372277, 19116921, 20179762, 20370905, 20833643, 21211616, 22307773, 22661643, 23440041, 24685909, 25070946, 25990747, 26554752, 26617177
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Arthritis Rheumatoid Stimulate 20133791, 37133700
Asthma Associate 31961487
Autoimmune Diseases Associate 40268165