Human Gene PRTN3 (ENST00000234347.10_4) from GENCODE V47lift37
  Description: proteinase 3 (from RefSeq NM_002777.4)
Gencode Transcript: ENST00000234347.10_4
Gencode Gene: ENSG00000196415.10_7
Transcript (Including UTRs)
   Position: hg19 chr19:840,999-848,175 Size: 7,177 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr19:841,009-847,969 Size: 6,961 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 (chr19:840,999-848,175)mRNA (may differ from genome)Protein (256 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PRTN3_HUMAN
DESCRIPTION: RecName: Full=Myeloblastin; EC=3.4.21.76; AltName: Full=AGP7; AltName: Full=C-ANCA antigen; AltName: Full=Leukocyte proteinase 3; Short=PR-3; Short=PR3; AltName: Full=Neutrophil proteinase 4; Short=NP-4; AltName: Full=P29; AltName: Full=Wegener autoantigen; Flags: Precursor;
FUNCTION: Polymorphonuclear leukocyte serine protease that degrades elastin, fibronectin, laminin, vitronectin, and collagen types I, III, and IV (in vitro) and causes emphysema when administered by tracheal insufflation to hamsters.
CATALYTIC ACTIVITY: Hydrolysis of proteins, including elastin, by preferential cleavage: -Ala-|-Xaa- > -Val-|-Xaa-.
INTERACTION: P84022:SMAD3; NbExp=2; IntAct=EBI-465028, EBI-347161;
SIMILARITY: Belongs to the peptidase S1 family. Elastase subfamily.
SIMILARITY: Contains 1 peptidase S1 domain.
SEQUENCE CAUTION: Sequence=AAA36342.1; Type=Frameshift; Positions=34, 39; Sequence=CAA39598.1; Type=Erroneous initiation;
WEB RESOURCE: Name=Wikipedia; Note=Proteinase 3 entry; URL="http://en.wikipedia.org/wiki/Proteinase_3";

-  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: PRTN3
Diseases sorted by gene-association score: wegener granulomatosis* (47), rapidly progressive glomerulonephritis (18), churg-strauss syndrome (14), polyarteritis nodosa (12), vasculitis (8), drug-induced vasculitis (8), glomerulonephritis (6), acute serous otitis media (5), impetigo herpetiformis (4), ulcerative colitis (4), hyperthyroidism (4), hypersensitivity reaction type ii disease (3), lung disease (3), systemic lupus erythematosus (3), cystic fibrosis (3), cholangitis, primary sclerosing (3), orbital granuloma (2), hypersensitivity reaction disease (2), leukemia, chronic myeloid, somatic (2), sclerosing keratitis (2), endocardium disease (2), posterior scleritis (2), immune system disease (2), bone inflammation disease (2), granulomatous gastritis (1), meibomian cyst (1), granulomatous myositis (1), anterior scleritis (1), middle ear disease (1), tolosa-hunt syndrome (1), palindromic rheumatism (1), non-suppurative otitis media (1), monoclonal paraproteinemia (1), pulmonary hemosiderosis (1), wilms tumor susceptibility-5 (1), ocular hyperemia (1), chronic orbital inflammation (1), hydrarthrosis (1), lateral medullary syndrome (1), ethmoid sinusitis (1), neurodegeneration with brain iron accumulation 4 (1), arteritic anterior ischemic optic neuropathy (1), pericardial tuberculosis (1), multiple cranial nerve palsy (1), agraphia (1), granulomatous angiitis (1), sialolithiasis (1), chronic maxillary sinusitis (1), poland syndrome (1), epileptic encephalopathy, childhood-onset (1), glossopharyngeal nerve disease (1), colonic benign neoplasm (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 14.20 RPKM in Whole Blood
Total median expression: 37.41 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
3' UTR -69.20206-0.336 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
PF09342 - Domain of unknown function (DUF1986)

SCOP Domains:
50494 - Trypsin-like serine proteases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1FUJ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P24158
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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:0005102 receptor binding
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008236 serine-type peptidase activity
GO:0016787 hydrolase activity
GO:0019899 enzyme binding

Biological Process:
GO:0006508 proteolysis
GO:0006509 membrane protein ectodomain proteolysis
GO:0007596 blood coagulation
GO:0008284 positive regulation of cell proliferation
GO:0019221 cytokine-mediated signaling pathway
GO:0019730 antimicrobial humoral response
GO:0030574 collagen catabolic process
GO:0043312 neutrophil degranulation
GO:0043547 positive regulation of GTPase activity
GO:0045217 cell-cell junction maintenance
GO:0050765 negative regulation of phagocytosis
GO:0072672 neutrophil extravasation
GO:0097029 mature conventional dendritic cell differentiation

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0035578 azurophil granule lumen
GO:0044853 plasma membrane raft
GO:0045121 membrane raft
GO:0070062 extracellular exosome
GO:0031012 extracellular matrix


-  Descriptions from all associated GenBank mRNAs
  M75154 - H.sapiens myeloblastin (MBN) mRNA, complete cds.
X56606 - H.sapiens mRNA for Proteinase 3.
BC096183 - Homo sapiens proteinase 3, mRNA (cDNA clone MGC:116834 IMAGE:40003794), complete cds.
BC096184 - Homo sapiens proteinase 3, mRNA (cDNA clone MGC:116835 IMAGE:40003797), complete cds.
BC096185 - Homo sapiens proteinase 3, mRNA (cDNA clone MGC:116836 IMAGE:40003799), complete cds.
BC096186 - Homo sapiens proteinase 3, mRNA (cDNA clone MGC:116837 IMAGE:40003803), complete cds.
KJ891909 - Synthetic construct Homo sapiens clone ccsbBroadEn_01303 PRTN3 gene, encodes complete protein.
AB527757 - Synthetic construct DNA, clone: pF1KB9909, Homo sapiens PRTN3 gene for proteinase 3, without stop codon, in Flexi system.
X55668 - Human mRNA for proteinase 3.
FN647680 - Homo sapiens mRNA for proteinase 3 (PRTN3 gene).
LT222231 - Homo sapiens lncRNA for PRTN3 gene.
M29142 - Human myeloblastin mRNA, complete cds.
X56132 - Human mRNA for proteinase 3 (PR-3), Wegner's autoantigen.
JD401277 - Sequence 382301 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P24158 (Reactome details) participates in the following event(s):

R-HSA-448591 Interleukin-32 binds proteinase-3
R-HSA-5607004 Soluble PROCR binds PRTN3:CD177
R-HSA-6798751 Exocytosis of azurophil granule lumen proteins
R-HSA-6813659 ELANE, CTSG or PRTN3 binds bacteria
R-HSA-449836 Other interleukin signaling
R-HSA-449147 Signaling by Interleukins
R-HSA-140875 Common Pathway of Fibrin Clot Formation
R-HSA-6798695 Neutrophil degranulation
R-HSA-6803157 Antimicrobial peptides
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-140877 Formation of Fibrin Clot (Clotting Cascade)
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000234347.1, ENST00000234347.2, ENST00000234347.3, ENST00000234347.4, ENST00000234347.5, ENST00000234347.6, ENST00000234347.7, ENST00000234347.8, ENST00000234347.9, MBN, NM_002777, P15637, P18078, P24158, PRTN3_HUMAN, Q4VB08, Q4VB09, Q6LBM7, Q6LBN2, Q9UD25, Q9UQD8, uc317dza.1, uc317dza.2
UCSC ID: ENST00000234347.10_4
RefSeq Accession: NM_002777.4
Protein: P24158 (aka PRTN3_HUMAN or PRN3_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.