Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 5328
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol PLAU   Gene   UCSC   Ensembl
Aliases ATF, BDPLT5, QPD, UPA, URK, u-PA
Gene name plasminogen activator, urokinase
Alternate names urokinase-type plasminogen activator, U-plasminogen activator, plasminogen activator, urinary,
Gene location 10q22.2 (73909181: 73917500)     Exons: 12     NC_000010.11
Gene summary(Entrez) This gene encodes a secreted serine protease that converts plasminogen to plasmin. The encoded preproprotein is proteolytically processed to generate A and B polypeptide chains. These chains associate via a single disulfide bond to form the catalytically inactive high molecular weight urokinase-type plasminogen activator (HMW-uPA). HMW-uPA can be further processed into the catalytically active low molecular weight urokinase-type plasminogen activator (LMW-uPA). This low molecular weight form does not bind to the urokinase-type plasminogen activator receptor. Mutations in this gene may be associated with Quebec platelet disorder and late-onset Alzheimer's disease. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
OMIM 191840

SNPs

rs2227564

Strand:    Allele origin: T(germline)/C(germline)  Allele change: C/T   Mutation type: snp

CM000672.2   g.73913343T>C
NC_000010.10   g.75673101T=
NC_000010.10   g.75673101T>C
NC_000010.11   g.73913343T=
NC_000010.11   g.73913343T>C
NG_011904.1   g.7240C=
NG_011904.1   g.7240C>T
NM_001001791.2   c.-73-268A>G
NM_001001791.2   c.-73-268G>A
NM_001145031.1   c.371C=
NM_001145031.1   c.371C>T
NM_001145031.2   c.371C=
NM_001145031.2   c.371C>T
NM_001319191.1   c.164C=
NM_001319191.1   c.164C>T
NM_002658.3   c.422C=
NM_002658.3   c.422C>T
NM_002658.4   c.422C=
NM_002658.4   c.422C>T
NP_001138503.1   p.Pro124=
NP_001138503.1   p.Pro124Leu
NP_001306120.1   p.Pro55=
NP_001306120.1   p.Pro55Leu
NP_002649.1   p.Pro141=
NP_002649.1   p.Pro141Leu
XP_005269958.1   p.Leu55=
XP_005269958.1   p.Leu55Pro
XP_011538168.1   p.Leu141=
XP_011538168.1   p.Leu141Pro
Clinical Significance: other

rs2227579

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000672.2   g.73911531C>A
CM000672.2   g.73911531C>T
NC_000010.10   g.75671289C>T
NC_000010.11   g.73911531C>A
NC_000010.11   g.73911531C>T
NG_011904.1   g.5428C>A
NG_011904.1   g.5428C>T
NM_001001791.2   c.*154G>A
NM_001001791.2   c.*154G>T
NM_001145031.1   c.-361C>A
NM_001145031.1   c.-361C>T
NM_001145031.2   c.-361C>A
NM_001145031.2   c.-361C>T
NM_001319191.1   c.-255C>A
NM_001319191.1   c.-255C>T
NM_002658.3   c.-25C>A
NM_002658.3   c.-25C>T
NM_002658.4   c.-25C>A
NM_002658.4   c.-25C>T
Clinical Significance: Likely benign

Protein Summary

Protein general information P00749  

Name: Urokinase type plasminogen activator (U plasminogen activator) (uPA) (EC 3.4.21.73) [Cleaved into: Urokinase type plasminogen activator long chain A; Urokinase type plasminogen activator short chain A; Urokinase type plasminogen activator chain B]

Length: 431  Mass: 48,507

Tissue specificity: Expressed in the prostate gland and prostate cancers. {ECO

Sequence MRALLARLLLCVLVVSDSKGSNELHQVPSNCDCLNGGTCVSNKYFSNIHWCNCPKKFGGQHCEIDKSKTCYEGNG
HFYRGKASTDTMGRPCLPWNSATVLQQTYHAHRSDALQLGLGKHNYCRNPDNRRRPWCYVQVGLKPLVQECMVHD
CADGKKPSSPPEELKFQCGQKTLRPRFKIIGGEFTTIENQPWFAAIYRRHRGGSVTYVCGGSLISPCWVISATHC
FIDYPKKEDYIVYLGRSRLNSNTQGEMKFEVENLILHKDYSADTLAHHNDIALLKIRSKEGRCAQPSRTIQTICL
PSMYNDPQFGTSCEITGFGKENSTDYLYPEQLKMTVVKLISHRECQQPHYYGSEVTTKMLCAADPQWKTDSCQGD
SGGPLVCSLQGRMTLTGIVSWGRGCALKDKPGVYTRVSHFLPWIRSHTKEENGLAL
Structural information
Protein Domains
EGF-like. (27-63)
Kringle. (70-151)
Peptidase (179-424)
Interpro:  IPR013032 IPR000742 IPR000001 IPR013806 IPR018056 IPR009003 IPR001314 IPR001254 IPR018114 IPR033116
Prosite:   PS00022 PS50026 PS00021 PS50070 PS50240 PS00134 PS00135

Pfam:  
PF00051 PF00089
CDD:   cd00190

PDB:  
1C5W 1C5X 1C5Y 1C5Z 1EJN 1F5K 1F5L 1F92 1FV9 1GI7 1GI8 1GI9 1GJ7 1GJ8 1GJ9 1GJA 1GJB 1GJC 1GJD 1KDU 1LMW 1O3P 1O5A 1O5B 1O5C 1OWD 1OWE 1OWH 1OWI 1OWJ 1OWK 1SC8 1SQA 1SQO 1SQT 1U6Q 1URK 1VJ9 1VJA 1W0Z 1W10 1W11 1W12 1W13 1W14 2FD6 2I9A 2I9B 2NWN 2O8T 2O8U
PDBsum:   1C5W 1C5X 1C5Y 1C5Z 1EJN 1F5K 1F5L 1F92 1FV9 1GI7 1GI8 1GI9 1GJ7 1GJ8 1GJ9 1GJA 1GJB 1GJC 1GJD 1KDU 1LMW 1O3P 1O5A 1O5B 1O5C 1OWD 1OWE 1OWH 1OWI 1OWJ 1OWK 1SC8 1SQA 1SQO 1SQT 1U6Q 1URK 1VJ9 1VJA 1W0Z 1W10 1W11 1W12 1W13 1W14 2FD6 2I9A 2I9B 2NWN 2O8T 2O8U

DIP:  
46387
STRING:   ENSP00000361850;
Other Databases GeneCards:  PLAU;  Malacards:  PLAU

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001525 angiogenesis
IEA biological_process
GO:0004252 serine-type endopeptidase
activity
IBA molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0006508 proteolysis
IEA biological_process
GO:0006935 chemotaxis
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0007283 spermatogenesis
IEA biological_process
GO:0007566 embryo implantation
IEA biological_process
GO:0007596 blood coagulation
IEA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IEA biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0010469 regulation of receptor ac
tivity
IDA biological_process
GO:0014823 response to activity
IEA biological_process
GO:0014909 smooth muscle cell migrat
ion
IEA biological_process
GO:0014910 regulation of smooth musc
le cell migration
IDA biological_process
GO:0014911 positive regulation of sm
ooth muscle cell migratio
n
IEA biological_process
GO:0030335 positive regulation of ce
ll migration
IDA biological_process
GO:0033628 regulation of cell adhesi
on mediated by integrin
IDA biological_process
GO:0035729 cellular response to hepa
tocyte growth factor stim
ulus
IEA biological_process
GO:0042730 fibrinolysis
TAS biological_process
GO:0043403 skeletal muscle tissue re
generation
IEA biological_process
GO:0055093 response to hyperoxia
IEA biological_process
GO:0060279 positive regulation of ov
ulation
IEA biological_process
GO:0061041 regulation of wound heali
ng
IC biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070997 neuron death
IEA biological_process
GO:0071222 cellular response to lipo
polysaccharide
IEA biological_process
GO:0071333 cellular response to gluc
ose stimulus
IEA biological_process
GO:0071456 cellular response to hypo
xia
IEA biological_process
GO:0071498 cellular response to flui
d shear stress
IEA biological_process
GO:0072734 cellular response to stau
rosporine
IEA biological_process
GO:2000097 regulation of smooth musc
le cell-matrix adhesion
IDA biological_process
GO:2000345 regulation of hepatocyte
proliferation
IEA biological_process
GO:2000379 positive regulation of re
active oxygen species met
abolic process
IEA biological_process
GO:0001525 angiogenesis
IEA biological_process
GO:0001666 response to hypoxia
IEA biological_process
GO:0004252 serine-type endopeptidase
activity
IEA molecular_function
GO:0004252 serine-type endopeptidase
activity
IBA molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0006508 proteolysis
IEA biological_process
GO:0006508 proteolysis
IEA biological_process
GO:0006508 proteolysis
TAS biological_process
GO:0006935 chemotaxis
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0007283 spermatogenesis
IEA biological_process
GO:0007566 embryo implantation
IEA biological_process
GO:0007596 blood coagulation
IEA biological_process
GO:0007599 hemostasis
IEA biological_process
GO:0008233 peptidase activity
IEA molecular_function
GO:0008233 peptidase activity
IEA molecular_function
GO:0008236 serine-type peptidase act
ivity
IEA molecular_function
GO:0008284 positive regulation of ce
ll proliferation
IEA biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0010469 regulation of receptor ac
tivity
IDA biological_process
GO:0014823 response to activity
IEA biological_process
GO:0014909 smooth muscle cell migrat
ion
IEA biological_process
GO:0014910 regulation of smooth musc
le cell migration
IDA biological_process
GO:0014911 positive regulation of sm
ooth muscle cell migratio
n
IEA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016787 hydrolase activity
IEA molecular_function
GO:0030335 positive regulation of ce
ll migration
IDA biological_process
GO:0033628 regulation of cell adhesi
on mediated by integrin
IDA biological_process
GO:0035728 response to hepatocyte gr
owth factor
IEA biological_process
GO:0035729 cellular response to hepa
tocyte growth factor stim
ulus
IEA biological_process
GO:0042060 wound healing
IEA biological_process
GO:0042127 regulation of cell prolif
eration
IEA biological_process
GO:0042730 fibrinolysis
IEA biological_process
GO:0042730 fibrinolysis
IEA biological_process
GO:0042730 fibrinolysis
TAS biological_process
GO:0043403 skeletal muscle tissue re
generation
IEA biological_process
GO:0055093 response to hyperoxia
IEA biological_process
GO:0060279 positive regulation of ov
ulation
IEA biological_process
GO:0061041 regulation of wound heali
ng
IC biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070997 neuron death
IEA biological_process
GO:0071222 cellular response to lipo
polysaccharide
IEA biological_process
GO:0071310 cellular response to orga
nic substance
IEA biological_process
GO:0071333 cellular response to gluc
ose stimulus
IEA biological_process
GO:0071456 cellular response to hypo
xia
IEA biological_process
GO:0071498 cellular response to flui
d shear stress
IEA biological_process
GO:0072734 cellular response to stau
rosporine
IEA biological_process
GO:2000097 regulation of smooth musc
le cell-matrix adhesion
IDA biological_process
GO:2000345 regulation of hepatocyte
proliferation
IEA biological_process
GO:2000379 positive regulation of re
active oxygen species met
abolic process
IEA biological_process
GO:0004252 serine-type endopeptidase
activity
IBA molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0006508 proteolysis
TAS biological_process
GO:0006935 chemotaxis
TAS biological_process
GO:0007165 signal transduction
TAS biological_process
GO:0009986 cell surface
IDA cellular_component
GO:0010469 regulation of receptor ac
tivity
IDA biological_process
GO:0014910 regulation of smooth musc
le cell migration
IDA biological_process
GO:0030335 positive regulation of ce
ll migration
IDA biological_process
GO:0033628 regulation of cell adhesi
on mediated by integrin
IDA biological_process
GO:0042730 fibrinolysis
TAS biological_process
GO:0061041 regulation of wound heali
ng
IC biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:2000097 regulation of smooth musc
le cell-matrix adhesion
IDA biological_process

KEGG pathways

hsa05206  MicroRNAs in cancer
hsa05205  Proteoglycans in cancer
hsa05202  Transcriptional misregulation in cancer
hsa04064  NF-kappa B signaling pathway
hsa04610  Complement and coagulation cascades

Diseases

Associated diseases References
Alzheimer's disease OMIM: 191840
Asthma PMID: 17363771
Azoospermia PMID: 1908531
Bronchopulmonary dysplasia PMID: 15868845
Cancer PMID: 19526059
Chronic prostatitis PMID: 15362519
Diabetes PMID: 15750768
Endometriosis PMID: 9806560
Endometriosis PMID: 16274610
Nephrolithiasis PMID: 16509805
Endometriosis INFBASE9806560
Oligoasthenoteratozoospermia PMID: 1908531
Oligoasthenozoospermia PMID: 17009528
Osteoporosis PMID: 15927351
Implantation failure PMID: 16274610
Quebec platelet disorder OMIM: 191840
Rheumatoid arthritis PMID: 15083890
Spermatogenetic defects PMID: 9812782
Urolithiasis PMID: 11880102

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
19945964 Endometrio
sis


VEGF-A
uPA
MMP-3
thrombospondin-1
PAI-1
TIMP-1
Show abstract
15579491 Endometrio
sis

89 (57 women wi
th endometriosi
s, 32 controls)

Show abstract
14981142 Endometrio
sis


uPA
PAI-1
uPAR
Show abstract
12832381 Endometrio
sis

74 (39 women wi
th endometriosi
s, 35 controls)
uPA
PAI-1
MMP-3
TIMP-1
Show abstract
14644829 Endometrio
sis


uPA
IGFBP-3
Show abstract
17506371 Endometrio
sis


TGF-beta1
uPA
Show abstract
9806560 Endometrio
sis


u-PA
PAI-1
PAI-2
Show abstract