ENSG00000106366


Homo sapiens

Features
Gene ID: ENSG00000106366
  
Biological name :SERPINE1
  
Synonyms : P05121 / SERPINE1 / serpin family E member 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: q22.1
Gene start: 101127089
Gene end: 101139266
  
Corresponding Affymetrix probe sets: 1568765_at (Human Genome U133 Plus 2.0 Array)   202627_s_at (Human Genome U133 Plus 2.0 Array)   202628_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000223095
NCBI entrez gene - 5054     See in Manteia.
OMIM - 173360
RefSeq - XM_017012260
RefSeq - NM_000602
RefSeq Peptide - NP_000593
swissprot - P05121
swissprot - A0A024QYT5
Ensembl - ENSG00000106366
  
Related genetic diseases (OMIM): 173360 - {Transcription of plasminogen activator inhibitor, modulator of}
  613329 - Plasminogen activator inhibitor-1 deficiency, 613329
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
 serpine1ENSDARG00000056795Danio rerio
 Serpine1ENSMUSG00000037411Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P07093 / SERPINE2 / serpin family E member 2ENSG0000013591940
O75830 / SERPINI2 / serpin family I member 2ENSG0000011420431
Q99574 / SERPINI1 / serpin family I member 1ENSG0000016353630
A8MV23 / SERPINE3 / serpin family E member 3ENSG0000025330929
Q96P63 / SERPINB12 / serpin family B member 12ENSG0000016663427
P01008 / SERPINC1 / serpin family C member 1ENSG0000011760127
O75635 / SERPINB7 / serpin family B member 7ENSG0000016639625
P50454 / SERPINH1 / serpin family H member 1ENSG0000014925723
Q96P15 / SERPINB11 / serpin family B member 11 (gene/pseudogene)ENSG0000020607219


Protein motifs (from Interpro)
Interpro ID Name
 IPR000215  Serpin family
 IPR023795  Serpin, conserved site
 IPR023796  Serpin domain
 IPR036186  Serpin superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001300 chronological cell aging IEP
 biological_processGO:0001525 angiogenesis IEP
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0007623 circadian rhythm TAS
 biological_processGO:0010466 negative regulation of peptidase activity IEA
 biological_processGO:0010469 regulation of signaling receptor activity IDA
 biological_processGO:0010757 negative regulation of plasminogen activation IMP
 biological_processGO:0010951 negative regulation of endopeptidase activity IDA
 biological_processGO:0014912 negative regulation of smooth muscle cell migration IDA
 biological_processGO:0030194 positive regulation of blood coagulation IMP
 biological_processGO:0030195 negative regulation of blood coagulation IC
 biological_processGO:0030198 extracellular matrix organization TAS
 biological_processGO:0030336 negative regulation of cell migration IDA
 biological_processGO:0032757 positive regulation of interleukin-8 production IMP
 biological_processGO:0033629 negative regulation of cell adhesion mediated by integrin IDA
 biological_processGO:0035491 positive regulation of leukotriene production involved in inflammatory response IMP
 biological_processGO:0042730 fibrinolysis TAS
 biological_processGO:0045766 positive regulation of angiogenesis IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II TAS
 biological_processGO:0048260 positive regulation of receptor-mediated endocytosis IDA
 biological_processGO:0050729 positive regulation of inflammatory response IGI
 biological_processGO:0050829 defense response to Gram-negative bacterium IGI
 biological_processGO:0051918 negative regulation of fibrinolysis IDA
 biological_processGO:0061044 negative regulation of vascular wound healing IGI
 biological_processGO:0061045 negative regulation of wound healing IC
 biological_processGO:0071222 cellular response to lipopolysaccharide IMP
 biological_processGO:0090026 positive regulation of monocyte chemotaxis IMP
 biological_processGO:0090399 replicative senescence IMP
 biological_processGO:0097187 dentinogenesis IDA
 biological_processGO:1901331 positive regulation of odontoblast differentiation IDA
 biological_processGO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IMP
 biological_processGO:2000098 negative regulation of smooth muscle cell-matrix adhesion IDA
 biological_processGO:2000352 negative regulation of endothelial cell apoptotic process IMP
 cellular_componentGO:0005576 extracellular region IDA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0031012 extracellular matrix IDA
 cellular_componentGO:0031093 platelet alpha granule lumen TAS
 cellular_componentGO:0070062 extracellular exosome IDA
 molecular_functionGO:0002020 protease binding IPI
 molecular_functionGO:0004867 serine-type endopeptidase inhibitor activity IDA
 molecular_functionGO:0005102 signaling receptor binding IPI
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030414 peptidase inhibitor activity IEA


Pathways (from Reactome)
Pathway description
Platelet degranulation
BMAL1:CLOCK,NPAS2 activates circadian gene expression
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
ECM proteoglycans
Dissolution of Fibrin Clot


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000132 Menorrhagia 
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 HP:0003577 Onset at birth 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000109072 VTN / P04004 / vitronectin  / reaction / complex
 ENSG00000011422 PLAUR / Q03405 / plasminogen activator, urokinase receptor  / complex / reaction
 ENSG00000104368 PLAT / P00750 / plasminogen activator, tissue type  / complex / reaction
 ENSG00000122861 PLAU / P00749 / plasminogen activator, urokinase  / reaction / complex






 

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