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PRTN3 proteinase 3 [ Homo sapiens (human) ]

Gene ID: 5657, updated on 11-Sep-2019

Summary

Official Symbol
PRTN3provided by HGNC
Official Full Name
proteinase 3provided by HGNC
Primary source
HGNC:HGNC:9495
See related
Ensembl:ENSG00000196415 MIM:177020
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MBN; MBT; NP4; P29; PR3; ACPA; AGP7; NP-4; PR-3; CANCA; C-ANCA
Expression
Restricted expression toward bone marrow (RPKM 616.2) See more
Orthologs

Genomic context

See PRTN3 in Genome Data Viewer
Location:
19p13.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (840965..848175)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (840985..848175)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene phospholipid phosphatase related 3 Neighboring gene microRNA 3187 Neighboring gene azurocidin 1 Neighboring gene elastase, neutrophil expressed Neighboring gene complement factor D

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Antimicrobial peptides, organism-specific biosystem (from REACTOME)
    Antimicrobial peptides, organism-specific biosystemAntimicrobial peptides (AMPs) are small molecular weight proteins with broad spectrum of antimicrobial activity against bacteria, viruses, and fungi (Zasloff M 2002; Radek K & Gallo R 2007). The majo...
  • C-MYB transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    C-MYB transcription factor network, organism-specific biosystem
    C-MYB transcription factor network
  • Common Pathway of Fibrin Clot Formation, organism-specific biosystem (from REACTOME)
    Common Pathway of Fibrin Clot Formation, organism-specific biosystemThe common pathway consists of the cascade of activation events leading from the formation of activated factor X to the formation of active thrombin, the cleavage of fibrinogen by thrombin, and the f...
  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystem (from REACTOME)
    Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystemThe formation of a fibrin clot at the site of an injury to the wall of a normal blood vessel is an essential part of the process to stop blood loss after vascular injury. The reactions that lead to ...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
    Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity EXP
Inferred from Experiment
more info
PubMed 
serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
serine-type endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
serine-type peptidase activity TAS
Traceable Author Statement
more info
PubMed 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
antimicrobial humoral response TAS
Traceable Author Statement
more info
 
blood coagulation TAS
Traceable Author Statement
more info
 
cell-cell junction maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
collagen catabolic process IEA
Inferred from Electronic Annotation
more info
 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
mature conventional dendritic cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
membrane protein ectodomain proteolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of phagocytosis IDA
Inferred from Direct Assay
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
neutrophil extravasation IMP
Inferred from Mutant Phenotype
more info
PubMed 
phagocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
proteolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
azurophil granule lumen IDA
Inferred from Direct Assay
more info
PubMed 
azurophil granule lumen TAS
Traceable Author Statement
more info
 
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
plasma membrane raft IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
myeloblastin
Names
C-ANCA antigen
Wegener granulomatosis autoantigen
azurophil granule protein 7
leukocyte proteinase 3
neutrophil proteinase 4
serine proteinase, neutrophil
wegener autoantigen
NP_002768.3
XP_011526438.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_002777.4NP_002768.3  myeloblastin precursor

    See identical proteins and their annotated locations for NP_002768.3

    Status: VALIDATED

    Source sequence(s)
    AC004799, BC096185, M75154
    Consensus CDS
    CCDS32860.1
    UniProtKB/Swiss-Prot
    P24158
    Related
    ENSP00000234347.3, ENST00000234347.10
    Conserved Domains (1) summary
    cd00190
    Location:28246
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    840965..848175
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528136.1XP_011526438.1  myeloblastin isoform X1

    See identical proteins and their annotated locations for XP_011526438.1

    Conserved Domains (2) summary
    smart00020
    Location:27206
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:28206
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187622.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    19842..27018
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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