ENSG00000196415


Homo sapiens

Features
Gene ID: ENSG00000196415
  
Biological name :PRTN3
  
Synonyms : P24158 / proteinase 3 / PRTN3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: p13.3
Gene start: 840960
Gene end: 848175
  
Corresponding Affymetrix probe sets: 207341_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000234347
Ensembl peptide - ENSP00000475174
NCBI entrez gene - 5657     See in Manteia.
OMIM - 177020
RefSeq - XM_011528136
RefSeq - NM_002777
RefSeq Peptide - NP_002768
swissprot - P24158
swissprot - U3KPS2
Ensembl - ENSG00000196415
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Prtn3ENSMUSG00000057729Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ELANE / P08246 / elastase, neutrophil expressedENSG0000019756153
AZU1 / P20160 / azurocidin 1ENSG0000017223241


Protein motifs (from Interpro)
Interpro ID Name
 IPR001254  Serine proteases, trypsin domain
 IPR001314  Peptidase S1A, chymotrypsin family
 IPR009003  Peptidase S1, PA clan
 IPR018114  Serine proteases, trypsin family, histidine active site
 IPR033116  Serine proteases, trypsin family, serine active site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006509 membrane protein ectodomain proteolysis IMP
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0008284 positive regulation of cell proliferation TAS
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0019730 antimicrobial humoral response TAS
 biological_processGO:0030574 collagen catabolic process IEA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0043547 positive regulation of GTPase activity IMP
 biological_processGO:0045217 cell-cell junction maintenance IMP
 biological_processGO:0050765 negative regulation of phagocytosis IDA
 biological_processGO:0072672 neutrophil extravasation IMP
 biological_processGO:0097029 mature conventional dendritic cell differentiation IDA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031012 extracellular matrix IDA
 cellular_componentGO:0035578 azurophil granule lumen IDA
 cellular_componentGO:0044853 plasma membrane raft IDA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004252 serine-type endopeptidase activity IEA
 molecular_functionGO:0005102 signaling receptor binding IPI
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008236 serine-type peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0019899 enzyme binding IPI


Pathways (from Reactome)
Pathway description
Common Pathway of Fibrin Clot Formation
Other interleukin signaling
Neutrophil degranulation
Antimicrobial peptides


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000024 Prostatitis 
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 HP:0000071 Ureteral stenosis 
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 HP:0000083 Renal failure 
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 HP:0000093 Proteinuria 
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 HP:0000126 Hydronephrosis 
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 HP:0000163 Abnormality of the oral cavity "Abnormality of the opening or hollow part of the mouth." [HPO:curators]
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 HP:0000246 Sinusitis 
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 HP:0000389 Chronic otitis media 
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000421 Epistaxis 
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 HP:0000488 Retinopathy 
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 HP:0000505 Impaired vision 
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 HP:0000520 Proptosis 
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 HP:0000763 Sensory neuropathy "Peripheral neuropathy affecting primarily the sensory nerves." [HPO:curators]
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 HP:0000790 Hematuria "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators]
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0000864 Abnormality of the hypothalamus-pituitary axis 
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 HP:0000873 Diabetes insipidus "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." [HPO:curators]
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 HP:0000979 Purpura 
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 HP:0000988 Skin rash 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001287 Meningitis 
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 HP:0001681 Angina pectoris 
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 HP:0001701 Pericarditis 
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 HP:0001733 Pancreatitis 
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 HP:0001824 Weight loss 
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 HP:0001945 Fever 
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 HP:0002017 Nausea and vomiting 
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 HP:0002027 Abdominal pain 
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 HP:0002091 Restrictive lung disease 
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 HP:0002093 Respiratory insufficiency 
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 HP:0002102 Pleuritis "Inflammation of the pleura." [HPO:sdoelken]
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 HP:0002105 Hemoptysis "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [HPO:curators]
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 HP:0002113 Pulmonary infiltrates 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002206 Pulmonary fibrosis 
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 HP:0002239 Gastrointestinal hemorrhage 
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 HP:0002301 Hemiplegia "Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body." [HPO:curators]
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 HP:0002315 Headache "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators]
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 HP:0002633 Vasculitis 
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 HP:0002637 Cerebral ischemia 
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 HP:0002829 Arthralgia 
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 HP:0002955 Tissue biopsy shows granulomas 
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 HP:0002960 Autoimmune disease 
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 HP:0003326 Myalgia "A tendency to experience muscle pain." [HPO:curators]
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 HP:0003565 Elevated erythrocyte sedimentation rate 
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 HP:0004936 Venous thrombosis 
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 HP:0005214 Intestinal obstruction 
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 HP:0006510 Chronic obstructive pulmonary disease 
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 HP:0006535 Recurrent intrapulmonary hemorrhage 
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 HP:0006824 Cranial nerve paralysis 
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 HP:0011227 Elevated C-reactive protein level "An abnormal elevation of the C-reactive protein level in serum." [HPO:probinson]
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 HP:0011675 Arrhythmia "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792]
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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 HP:0012735 Cough "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson]
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 HP:0100533 Inflammatory abnormality of the eye "Inflammation of the eye, parts of the eye or the periorbital region." [HPO:sdoelken]
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 HP:0100539 Periorbital edema 
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 HP:0100749 Chest pain 
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 HP:0100758 Gangrene "A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis)." [ISBN:9780781770873]
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 HP:0100820 Glomerulopathy "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron." [HPO:sdoelken]
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 HP:0200034 skin papules "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:SKOEHLER]
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 HP:0200042 skin ulcer "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000008517 IL32 / P24001 / interleukin 32  / complex / reaction
 ENSG00000101000 PROCR / Q9UNN8 / protein C receptor  / complex / reaction
 ENSG00000204936 CD177 / Q8N6Q3 / CD177 molecule  / complex






 

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