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PRTN3 Gene(Protein Coding)

Proteinase 3

GCID:
GC19P000840
GIFtS:
63
Genes Participants
UDN Logo

Aliases for PRTN3 Gene

Aliases for PRTN3 Gene

  • Proteinase 3 2 3 5
  • Wegener Granulomatosis Autoantigen 2 3
  • Serine Proteinase, Neutrophil 2 3
  • Neutrophil Proteinase 4 3 4
  • Leukocyte Proteinase 3 3 4
  • Wegener Autoantigen 3 4
  • C-ANCA Antigen 3 4
  • Myeloblastin 2 3
  • AGP7 3 4
  • NP-4 3 4
  • PR-3 3 4
  • P29 3 4
  • MBN 3 4
  • PR3 3 4
  • Azurophil Granule Protein 7 3
  • EC 3.4.21.76 4
  • EC 3.4.21 61
  • 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 Rapidly Progressive Glomerulonephritis. Among its related pathways are Defensins and C-MYB transcription factor network. 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 , CIViC 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G000906 2 FANTOM5 Ensembl ENCODE dbSUPER 13.1 +67.6 67599 4.7 HDGF FOXA2 PKNOX1 CREB3L1 MLX ARNT AGO1 ARID4B SIN3A DMAP1 CFD MIDN ARHGAP45 R3HDM4 ABCA7 ELANE PRTN3 GZMM SBNO2 CIRBP
GH19G000747 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.3 -89.0 -89045 9.4 ATF1 FOXA2 PKNOX1 ARID4B SIN3A BRCA1 ZBTB7B ZNF143 FOS SP5 MISP PRTN3 ELANE CFD CIRBP ENSG00000268798 FSTL3 PLPP2 TPGS1 GC19P000749
GH19G000823 1.3 FANTOM5 ENCODE 12.4 -17.2 -17248 0.5 ATF1 CREB3L1 SIN3A ZNF766 ELK1 KDM4B NCOA1 ZNF592 MBD2 SMARCA4 AZU1 PLPPR3 PRTN3 ELANE PRSS57 BSG PTBP1 GC19P000823
GH19G000903 1 ENCODE dbSUPER 13.5 +62.7 62716 0.2 KLF1 KLF17 ZIC2 HIC1 GLIS2 ZFHX2 PATZ1 KLF7 PRDM10 EGR2 CFD ELANE PRTN3 R3HDM4 RNU6-9
GH19G000907 1 ENCODE dbSUPER 13.5 +62.4 62396 0.2 PKNOX1 KLF17 ZIC2 HIC1 GLIS2 PATZ1 ADNP KLF7 PRDM10 EGR2 CFD ELANE PRTN3 R3HDM4 RNU6-9
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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

Protein Expression for PRTN3 Gene

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

Selected DME Specific Peptides for PRTN3 Gene

P24158:
  • VLTAAHC
  • GDSGGPL
  • SGGPLIC
  • PHSRPYMA
  • VLQELNVTVVT

Post-translational modifications for PRTN3 Gene

  • Glycosylation at Asn129 and Asn174

Other Protein References for PRTN3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for PRTN3 (Proteinase 3/Myeloblastin/PRTN3)
  • Cloud-Clone Corp. Antibodies for PRTN3
  • Santa Cruz Biotechnology (SCBT) Antibodies for PRTN3

Assay Products

  • Cloud-Clone Corp Assay Kits for PRTN3
  • Abcam assays for 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 :
  • Belongs to the peptidase S1 family. Elastase subfamily.
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

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 --
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA,TAS 2679910
GO:0016787 hydrolase activity IEA --
GO:0019899 enzyme binding IPI 17712045
genes like me logo Genes that share ontologies with PRTN3: view
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

Clone Products

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

Localization for PRTN3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRTN3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
lysosome 5
cytoskeleton 2
nucleus 2

Gene Ontology (GO) - Cellular Components for PRTN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 16502470
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
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:0006508 proteolysis IEA --
GO:0007596 blood coagulation TAS --
GO:0008284 positive regulation of cell proliferation TAS 2598267
GO:0019730 antimicrobial humoral response TAS --
GO:0030574 collagen catabolic process IEA --
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

(27) 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 2
Gabexate mesylate Pharma Trypsin-like serine proteinases inhibitor 0

(19) 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

mRNA/cDNA for PRTN3 Gene

(2) 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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for PRTN3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRTN3 Gene:

PRTN3

SOURCE GeneReport for Unigene cluster for PRTN3 Gene:

Hs.928

Evidence on tissue expression from TISSUES for PRTN3 Gene

  • Blood(4.6)
  • Bone marrow(3.4)
  • Lung(2.7)
  • Kidney(2.6)
  • Spleen(2.4)
  • Heart(2.1)
  • Skin(2)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRTN3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • larynx
  • mouth
  • neck
  • nose
  • pituitary gland
  • sinus
  • skull
Thorax:
  • bronchus
  • esophagus
  • heart
  • lung
  • trachea
Abdomen:
  • kidney
  • stomach
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with PRTN3: view

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
chimpanzee
(Pan troglodytes)
 Mammalia PRTN3 35
  • 95 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia PRTN3 34 35
  • 75.3 (n)
mouse
(Mus musculus)
 Mammalia Prtn3 34 16 35
  • 73.19 (n)
rat
(Rattus norvegicus)
 Mammalia Prtn3 34
  • 70.96 (n)
oppossum
(Monodelphis domestica)
 Mammalia PRTN3 35
  • 53 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia prtn3 34
  • 55.61 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007142 34
  • 47.76 (n)
Species where no ortholog for PRTN3 was found in the sources mined by GeneCards:
  • 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

Variants for PRTN3 Gene

Sequence variations from dbSNP and Humsavar for PRTN3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000024445 -- 841,279(+) AGTTG(C/T)CTATC intron-variant
rs1001347644 -- 844,276(+) GCCTC(C/T)CCCCC intron-variant
rs1001619269 -- 839,741(+) CCAGG(A/G)TTAGA upstream-variant-2KB
rs1001960501 -- 843,436(+) CTCCC(C/T)GACGC intron-variant
rs1002029059 -- 839,586(+) CCCCC(A/G)TTTCC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv134n111 CNV deletion 26073780
dgv1679n106 CNV deletion 24896259
esv2717797 CNV deletion 23290073
esv2717798 CNV deletion 23290073
nsv1112307 CNV deletion 24896259
nsv138320 CNV deletion 16902084
nsv458321 CNV loss 19166990
nsv470101 CNV loss 18288195
nsv578167 CNV loss 21841781
nsv578172 CNV loss 21841781
nsv953938 CNV deletion 24416366

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRTN3

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

Disorders for PRTN3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
wegener granulomatosis
  • wegener's granulomatosis
rapidly progressive glomerulonephritis
  • crescentic glomerulonephritis
churg-strauss syndrome
  • allergic granulomatosis angiitis
drug-induced vasculitis
  • drug induced cutaneous vasculitis
polyarteritis nodosa
  • pan
- 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 22 64
  2. Increased neutrophil membrane expression and plasma level of proteinase 3 in systemic vasculitis are not a consequence of the - 564 A/G promotor polymorphism. (PMID: 16792675) Abdgawad M. … Segelmark M. (Clin. Exp. Immunol. 2006) 3 22 46 64
  3. Proteinase 3 gene polymorphisms and Wegener's granulomatosis. (PMID: 11115080) Gencik M. … Fricke H. (Kidney Int. 2000) 3 22 46 64
  4. The crystal structure of PR3, a neutrophil serine proteinase antigen of Wegener's granulomatosis antibodies. (PMID: 8757293) Fujinaga M. … James M.N.G. (J. Mol. Biol. 1996) 3 4 22 64
  5. Structure, chromosomal assignment, and expression of the gene for proteinase-3. The Wegener's granulomatosis autoantigen. (PMID: 1400430) Sturrock A.B. … Hoidal J.R. (J. Biol. Chem. 1992) 3 4 22 64

Products for PRTN3 Gene

  • Cloud-Clone Corp. Antibodies for PRTN3
  • Cloud-Clone Corp. Proteins for PRTN3
  • Cloud-Clone Corp Assay Kits for PRTN3

Sources for PRTN3 Gene

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