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PRTN3 Gene(Protein Coding)

Proteinase 3

GCID:
GC19P000840
GIFtS:
66
Genes Participants
UDN Logo

Aliases for PRTN3 Gene

Aliases for PRTN3 Gene

  • Proteinase 3 2 3 5
  • Wegener Granulomatosis Autoantigen 2 3
  • Neutrophil Proteinase 4 3 4
  • Leukocyte Proteinase 3 3 4
  • Wegener Autoantigen 3 4
  • C-ANCA Antigen 3 4
  • AGP7 3 4
  • NP-4 3 4
  • PR-3 3 4
  • P29 3 4
  • MBN 3 4
  • PR3 3 4
  • Serine Proteinase, Neutrophil 3
  • Azurophil Granule Protein 7 3
  • Serine Proteinase 2
  • Myeloblastin 2
  • EC 3.4.21.76 4
  • Neutrophil 2
  • EC 3.4.21 63
  • C-ANCA 3
  • CANCA 3
  • ACPA 3
  • MBT 3
  • NP4 3

External Ids for PRTN3 Gene

Previous GeneCards Identifiers for PRTN3 Gene

  • GC19P000922
  • GC19P000910
  • GC19P000780
  • GC19P000793
  • GC19P000498
  • GC19P000794
  • GC19P000610

Summaries for PRTN3 Gene

GeneCards Summary for PRTN3 Gene

PRTN3 (Proteinase 3) is a Protein Coding gene. Diseases associated with PRTN3 include wegener granulomatosis and churg-strauss syndrome. Among its related pathways are Formation of Fibrin Clot (Clotting Cascade) and Interleukin-3, 5 and GM-CSF signaling. GO annotations related to this gene include enzyme binding and serine-type peptidase activity. An important paralog of this gene is ELANE.

UniProtKB/Swiss-Prot for PRTN3 Gene

  • 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.

Gene Wiki entry for PRTN3 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRTN3 Gene

Genomics for PRTN3 Gene

Products:

  1. Regulatory Element

Regulatory Elements for PRTN3 Gene

Enhancers for PRTN3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PRTN3 on UCSC Golden Path with GeneCards custom track

Promoters for PRTN3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PRTN3 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the PRTN3 gene promoter:

Genomic Location for PRTN3 Gene

Chromosome:
19
Start:
840,960 bp from pter
End:
848,175 bp from pter
Size:
7,216 bases
Orientation:
Plus strand

Genomic View for PRTN3 Gene

Genes around PRTN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRTN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRTN3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PRTN3 Gene

Proteins for PRTN3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for PRTN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P24158-PRTN3_HUMAN
    Recommended name:
    Myeloblastin
    Protein Accession:
    P24158
    Secondary Accessions:
    • P15637
    • P18078
    • Q4VB08
    • Q4VB09
    • Q6LBM7
    • Q6LBN2
    • Q9UD25
    • Q9UQD8

    Protein attributes for PRTN3 Gene

    Size:
    256 amino acids
    Molecular mass:
    27807 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA36342.1; Type=Frameshift; Positions=34, 39; Evidence={ECO:0000305}; Sequence=CAA39598.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PRTN3 Gene

neXtProt entry for PRTN3 Gene

Proteomics data for PRTN3 Gene at MOPED

Protein Expression for PRTN3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for PRTN3 Gene

P24158:

Post-translational modifications for PRTN3 Gene

  • Glycosylation at Asn 129 and Asn 174

Other Protein References for PRTN3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for PRTN3 (Proteinase 3/Myeloblastin/PRTN3)

Domains & Families for PRTN3 Gene

Protein Domains for PRTN3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PRTN3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P24158

UniProtKB/Swiss-Prot:

PRTN3_HUMAN :
  • Contains 1 peptidase S1 domain.
  • Belongs to the peptidase S1 family. Elastase subfamily.
Domain:
  • Contains 1 peptidase S1 domain.
Family:
  • Belongs to the peptidase S1 family. Elastase subfamily.
genes like me logo Genes that share domains with PRTN3: view

No data available for Gene Families for PRTN3 Gene

Function for PRTN3 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for PRTN3 Gene

GENATLAS Biochemistry:
proteinase 3,myeloblastin,Wegener autoantigen,responsive to CSF3,stimulated by SPI1,MYB,inducing factor independent growth of hematopoietic cells
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of proteins, including elastin, by preferential cleavage: -Ala- -Xaa- > -Val- -Xaa-.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for PRTN3 Gene

Gene Ontology (GO) - Molecular Function for PRTN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IBA --
genes like me logo Genes that share ontologies with PRTN3: view

Phenotypes for PRTN3 Gene

MGI mutant phenotypes for PRTN3:
inferred from 2 alleles
GenomeRNAi human phenotypes for PRTN3:
genes like me logo Genes that share phenotypes with PRTN3: view

Human Phenotype Ontology for PRTN3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRTN3 Gene

MGI Knock Outs for PRTN3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for PRTN3 Gene

Localization for PRTN3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PRTN3 Gene COMPARTMENTS Subcellular localization image for PRTN3 gene
Compartment Confidence
cytosol 5
extracellular 5
plasma membrane 5
lysosome 3
vacuole 3
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PRTN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with PRTN3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PRTN3 Gene

Pathways & Interactions for PRTN3 Gene

genes like me logo Genes that share pathways with PRTN3: view

Gene Ontology (GO) - Biological Process for PRTN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008284 positive regulation of cell proliferation TAS 2598267
GO:0030574 collagen catabolic process IEA --
GO:0050765 negative regulation of phagocytosis IDA 17712045
genes like me logo Genes that share ontologies with PRTN3: view

No data available for SIGNOR curated interactions for PRTN3 Gene

Drugs & Compounds for PRTN3 Gene

Products:

  1. Drug

(24) Drugs for PRTN3 Gene - From: DrugBank, ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Elafin Investigational Pharma Target 0
Gabexate mesylate Pharma Trypsin-like serine proteinases inhibitor, Serine protease inhibitor; inhibits thrombin, trypsin, kallikrein and plasmin 0

(22) Additional Compounds for PRTN3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for PRTN3 Gene

Compound Action Cas Number
Gabexate mesylate Trypsin-like serine proteinases inhibitor 56974-61-9
genes like me logo Genes that share compounds with PRTN3: view

Drug Products

Transcripts for PRTN3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for PRTN3 Gene

(3) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(27) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PRTN3 Gene

Proteinase 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRTN3 Gene

No ASD Table

Relevant External Links for PRTN3 Gene

GeneLoc Exon Structure for
PRTN3
ECgene alternative splicing isoforms for
PRTN3

Expression for PRTN3 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for PRTN3 Gene

mRNA expression in normal human tissues for PRTN3 Gene
mRNA expression by BioGPS for PRTN3 GenemRNA expression by GTEx for PRTN3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRTN3 Gene

This gene is overexpressed in Whole Blood (x41.9) and Spleen (x4.8).

Protein differential expression in normal tissues from HIPED for PRTN3 Gene

This gene is overexpressed in Neutrophil (22.5), Lavage (7.7), Cervix (6.6), Monocytes (6.3), and Spleen (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PRTN3 Gene



SOURCE GeneReport for Unigene cluster for PRTN3 Gene Hs.928

genes like me logo Genes that share expression patterns with PRTN3: view

Protein tissue co-expression partners for PRTN3 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for PRTN3 Gene

Orthologs for PRTN3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PRTN3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia PRTN3 35
  • 75.3 (n)
  • 69.32 (a)
PRTN3 36
  • 66 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Prtn3 35
  • 73.19 (n)
  • 68 (a)
Prtn3 16
Prtn3 36
  • 63 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Prtn3 35
  • 70.96 (n)
  • 68 (a)
oppossum
(Monodelphis domestica)
 Mammalia PRTN3 36
  • 53 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia PRTN3 36
  • 95 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia prtn3 35
  • 55.61 (n)
  • 52.8 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007142 35
  • 47.76 (n)
  • 38.94 (a)
Species with no ortholog for PRTN3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PRTN3 Gene

ENSEMBL:
Gene Tree for PRTN3 (if available)
TreeFam:
Gene Tree for PRTN3 (if available)

Paralogs for PRTN3 Gene

Paralogs for PRTN3 Gene

(51) SIMAP similar genes for PRTN3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PRTN3: view

Variants for PRTN3 Gene

Sequence variations from dbSNP and Humsavar for PRTN3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs351111 - 844,020(+) ACGAC(A/G)TTCTC reference, missense
rs1042281 - 846,180(+) CCGTC(A/G)CCACA reference, missense
rs1042282 - 846,183(+) TCGCC(A/T)CAGTC reference, missense
rs7257699 -- 843,454(+) CCCCC(A/C/G/T)CTGCA intron-variant
rs12976041 -- 847,559(+) AAAGA(A/G)AGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PRTN3 Gene

Variant ID Type Subtype PubMed ID
nsv470101 CNV Loss 18288195
dgv3508n71 CNV Loss 21882294
dgv3513n71 CNV Loss 21882294
dgv3516n71 CNV Loss 21882294
nsv910260 CNV Loss 21882294
dgv3549n71 CNV Loss 21882294
dgv3550n71 CNV Loss 21882294
dgv3551n71 CNV Loss 21882294
dgv3552n71 CNV Loss 21882294
nsv910292 CNV Loss 21882294
dgv3554n71 CNV Loss 21882294
nsv910310 CNV Loss 21882294
dgv3555n71 CNV Loss 21882294
nsv458321 CNV Loss 19166990
dgv3558n71 CNV Loss 21882294
nsv910320 CNV Loss 21882294
esv2717797 CNV Deletion 23290073
nsv138320 CNV Loss 16902084
esv2717798 CNV Deletion 23290073
dgv3559n71 CNV Loss 21882294
dgv3560n71 CNV Loss 21882294

Variation tolerance for PRTN3 Gene

Residual Variation Intolerance Score: 76.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.38; 81.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRTN3 Gene

HapMap Linkage Disequilibrium report
PRTN3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRTN3 Gene

Disorders for PRTN3 Gene

MalaCards: The human disease database

(45) MalaCards diseases for PRTN3 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wegener granulomatosis
  • wegener's granulomatosis
churg-strauss syndrome
  • allergic granulomatosis angiitis
polyarteritis nodosa
  • polyarteritis nodosa, childhood-onset
rapidly progressive glomerulonephritis
  • crescentic glomerulonephritis
vasculitis
  • angiitis
- elite association - COSMIC cancer census association via MalaCards
Search PRTN3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PRTN3

Genetic Association Database (GAD)
PRTN3
Human Genome Epidemiology (HuGE) Navigator
PRTN3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRTN3
genes like me logo Genes that share disorders with PRTN3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PRTN3 Gene

Publications for PRTN3 Gene

  1. Cloning of cDNA for proteinase 3: a serine protease, antibiotic, and autoantigen from human neutrophils. (PMID: 2258701) Campanelli D. … Gabay J.E. (J. Exp. Med. 1990) 2 3 4 23 67
  2. Structures of human proteinase 3 and neutrophil elastase--so similar yet so different. (PMID: 20423453) Hajjar E. … Reuter N. (FEBS J. 2010) 3 23
  3. Membrane-bound proteinase 3 and its receptors: relevance for the pathogenesis of Wegener's Granulomatosis. (PMID: 19185066) Hu N. … Kallenberg C.G. (Autoimmun Rev 2009) 3 23
  4. Catalytic activity and inhibition of wegener antigen proteinase 3 on the cell surface of human polymorphonuclear neutrophils. (PMID: 19447886) Korkmaz B. … Attucci S. (J. Biol. Chem. 2009) 3 23
  5. Neutrophil-derived proteinase 3 induces kallikrein-independent release of a novel vasoactive kinin. (PMID: 19494315) Kahn R. … Karpman D. (J. Immunol. 2009) 3 23

Products for PRTN3 Gene

Sources for PRTN3 Gene

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