ENSG00000104368


Homo sapiens

Features
Gene ID: ENSG00000104368
  
Biological name :PLAT
  
Synonyms : P00750 / plasminogen activator, tissue type / PLAT
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: -1
Band: p11.21
Gene start: 42175233
Gene end: 42207724
  
Corresponding Affymetrix probe sets: 201860_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000392045
Ensembl peptide - ENSP00000407861
Ensembl peptide - ENSP00000429801
Ensembl peptide - ENSP00000429542
Ensembl peptide - ENSP00000429401
Ensembl peptide - ENSP00000428886
Ensembl peptide - ENSP00000428797
Ensembl peptide - ENSP00000220809
Ensembl peptide - ENSP00000270188
NCBI entrez gene - 5327     See in Manteia.
OMIM - 173370
RefSeq - NM_001319189
RefSeq - NM_033011
RefSeq - NM_000930
RefSeq Peptide - NP_000921
RefSeq Peptide - NP_001306118
RefSeq Peptide - NP_127509
swissprot - E7ESF4
swissprot - P00750
swissprot - E5RHG4
swissprot - E5RGA1
swissprot - B4DNJ1
swissprot - B4DN26
swissprot - H0YBH9
Ensembl - ENSG00000104368
  
Related genetic diseases (OMIM): 612348 - Hyperfibrinolysis, familial, due to increased release of PLAT, 612348
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
 platENSDARG00000062707Danio rerio
 PLATENSGALG00000003709Gallus gallus
 PlatENSMUSG00000031538Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PLAU / P00749 / plasminogen activator, urokinaseENSG0000012286133
HGFAC / Q04756 / HGF activatorENSG0000010975833
PLG / P00747 / plasminogenENSG0000012219432
HABP2 / Q14520 / hyaluronan binding protein 2ENSG0000014870231
F12 / P00748 / coagulation factor XIIENSG0000013118731
LPA / P08519 / lipoprotein(a)ENSG0000019867030
F2 / P00734 / coagulation factor II, thrombinENSG0000018021022
MST1 / macrophage stimulating 1ENSG0000017353122
HGF / P14210 / hepatocyte growth factorENSG0000001999120


Protein motifs (from Interpro)
Interpro ID Name
 IPR000001  Kringle
 IPR000083  Fibronectin, type I
 IPR000742  EGF-like domain
 IPR001254  Serine proteases, trypsin domain
 IPR001314  Peptidase S1A, chymotrypsin family
 IPR009003  Peptidase S1, PA clan
 IPR013032  EGF-like, conserved site
 IPR013806  Kringle-like fold
 IPR018056  Kringle, conserved site
 IPR018114  Serine proteases, trypsin family, histidine active site
 IPR026280  Tissue plasminogen activator
 IPR033116  Serine proteases, trypsin family, serine active site
 IPR034811  Tissue-type plasminogen activator


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0006464 cellular protein modification process TAS
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0014909 smooth muscle cell migration IEA
 biological_processGO:0031639 plasminogen activation IEA
 biological_processGO:0042730 fibrinolysis TAS
 biological_processGO:0045861 negative regulation of proteolysis IDA
 biological_processGO:0048008 platelet-derived growth factor receptor signaling pathway IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0030141 secretory granule IEA
 cellular_componentGO:0045177 apical part of cell 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 TAS
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008236 serine-type peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0051219 phosphoprotein binding IPI


Pathways (from Reactome)
Pathway description
Signaling by PDGF
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:0004850 recurrent deep vein thrombosis 
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 HP:0100724 Hypercoagulability 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000104368 PLAT / P00750 / plasminogen activator, tissue type  / complex
 ENSG00000170962 PDGFD / Q9GZP0 / platelet derived growth factor D  / reaction
 ENSG00000106366 P05121 / SERPINE1 / serpin family E member 1  / reaction / complex
 ENSG00000145431 PDGFC / Q9NRA1 / platelet derived growth factor C  / reaction
 ENSG00000122194 PLG / P00747 / plasminogen  / complex / reaction






 

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