Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 10855
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol HPSE   Gene   UCSC   Ensembl
Aliases HPA, HPA1, HPR1, HPSE1, HSE1
Gene name heparanase
Alternate names heparanase, endo-glucoronidase, heparanase-1,
Gene location 4q21.23 (83335152: 83292460)     Exons: 13     NC_000004.12
Gene summary(Entrez) Heparan sulfate proteoglycans are major components of the basement membrane and extracellular matrix. The protein encoded by this gene is an enzyme that cleaves heparan sulfate proteoglycans to permit cell movement through remodeling of the extracellular matrix. In addition, this cleavage can release bioactive molecules from the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
OMIM 604724

Protein Summary

Protein general information Q9Y251  

Name: Heparanase (EC 3.2.1.166) (Endo glucoronidase) (Heparanase 1) (Hpa1) [Cleaved into: Heparanase 8 kDa subunit; Heparanase 50 kDa subunit]

Length: 543  Mass: 61,149

Tissue specificity: Highly expressed in placenta and spleen and weakly expressed in lymph node, thymus, peripheral blood leukocytes, bone marrow, endothelial cells, fetal liver and tumor tissues. Also expressed in hair follicles, specifically in both Henl

Sequence MLLRSKPALPPPLMLLLLGPLGPLSPGALPRPAQAQDVVDLDFFTQEPLHLVSPSFLSVTIDANLATDPRFLILL
GSPKLRTLARGLSPAYLRFGGTKTDFLIFDPKKESTFEERSYWQSQVNQDICKYGSIPPDVEEKLRLEWPYQEQL
LLREHYQKKFKNSTYSRSSVDVLYTFANCSGLDLIFGLNALLRTADLQWNSSNAQLLLDYCSSKGYNISWELGNE
PNSFLKKADIFINGSQLGEDFIQLHKLLRKSTFKNAKLYGPDVGQPRRKTAKMLKSFLKAGGEVIDSVTWHHYYL
NGRTATKEDFLNPDVLDIFISSVQKVFQVVESTRPGKKVWLGETSSAYGGGAPLLSDTFAAGFMWLDKLGLSARM
GIEVVMRQVFFGAGNYHLVDENFDPLPDYWLSLLFKKLVGTKVLMASVQGSKRRKLRVYLHCTNTDNPRYKEGDL
TLYAINLHNVTKYLRLPYPFSNKQVDKYLLRPLGPHGLLSKSVQLNGLTLKMVDDQTLPPLMEKPLRPGSSLGLP
AFSYSFFVIRNAKVAACI
Structural information
Interpro:  IPR005199 IPR017853

Pfam:  
PF03662

PDB:  
5E8M 5E97 5E98 5E9B 5E9C
PDBsum:   5E8M 5E97 5E98 5E9B 5E9C
STRING:   ENSP00000308107;
Other Databases GeneCards:  HPSE;  Malacards:  HPSE

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004566 beta-glucuronidase activi
ty
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:0005576 extracellular region
IEA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005764 lysosome
IDA cellular_component
GO:0005765 lysosomal membrane
IEA cellular_component
GO:0005975 carbohydrate metabolic pr
ocess
IEA biological_process
GO:0006027 glycosaminoglycan catabol
ic process
TAS biological_process
GO:0006029 proteoglycan metabolic pr
ocess
TAS biological_process
GO:0007160 cell-matrix adhesion
IDA biological_process
GO:0010575 positive regulation of va
scular endothelial growth
factor production
IDA biological_process
GO:0030194 positive regulation of bl
ood coagulation
IDA biological_process
GO:0030200 heparan sulfate proteogly
can catabolic process
IDA biological_process
GO:0030305 heparanase activity
IDA molecular_function
GO:0030305 heparanase activity
TAS molecular_function
GO:0033690 positive regulation of os
teoblast proliferation
IDA biological_process
GO:0043202 lysosomal lumen
TAS cellular_component
GO:0043231 intracellular membrane-bo
unded organelle
IDA cellular_component
GO:0045121 membrane raft
IEA cellular_component
GO:0045545 syndecan binding
IDA molecular_function
GO:0046983 protein dimerization acti
vity
IDA molecular_function
GO:0051797 regulation of hair follic
le development
IDA biological_process
GO:0051798 positive regulation of ha
ir follicle development
IEA biological_process
GO:0051897 positive regulation of pr
otein kinase B signaling
IDA biological_process
GO:0061042 vascular wound healing
IEA biological_process
GO:0004566 beta-glucuronidase activi
ty
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:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005764 lysosome
IEA cellular_component
GO:0005764 lysosome
IDA cellular_component
GO:0005765 lysosomal membrane
IEA cellular_component
GO:0005975 carbohydrate metabolic pr
ocess
IEA biological_process
GO:0006027 glycosaminoglycan catabol
ic process
TAS biological_process
GO:0006029 proteoglycan metabolic pr
ocess
TAS biological_process
GO:0007155 cell adhesion
IEA biological_process
GO:0007160 cell-matrix adhesion
IDA biological_process
GO:0010575 positive regulation of va
scular endothelial growth
factor production
IDA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016787 hydrolase activity
IEA molecular_function
GO:0016798 hydrolase activity, actin
g on glycosyl bonds
IEA molecular_function
GO:0030194 positive regulation of bl
ood coagulation
IDA biological_process
GO:0030200 heparan sulfate proteogly
can catabolic process
IDA biological_process
GO:0030305 heparanase activity
IDA molecular_function
GO:0030305 heparanase activity
TAS molecular_function
GO:0033690 positive regulation of os
teoblast proliferation
IEA biological_process
GO:0033690 positive regulation of os
teoblast proliferation
IDA biological_process
GO:0042060 wound healing
IEA biological_process
GO:0043202 lysosomal lumen
TAS cellular_component
GO:0043231 intracellular membrane-bo
unded organelle
IDA cellular_component
GO:0045121 membrane raft
IEA cellular_component
GO:0045545 syndecan binding
IDA molecular_function
GO:0046983 protein dimerization acti
vity
IDA molecular_function
GO:0051797 regulation of hair follic
le development
IDA biological_process
GO:0051798 positive regulation of ha
ir follicle development
IEA biological_process
GO:0051897 positive regulation of pr
otein kinase B signaling
IEA biological_process
GO:0051897 positive regulation of pr
otein kinase B signaling
IDA biological_process
GO:0060055 angiogenesis involved in
wound healing
IEA biological_process
GO:0061042 vascular wound healing
IEA biological_process
GO:0004566 beta-glucuronidase activi
ty
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:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005764 lysosome
IDA cellular_component
GO:0006027 glycosaminoglycan catabol
ic process
TAS biological_process
GO:0006029 proteoglycan metabolic pr
ocess
TAS biological_process
GO:0007160 cell-matrix adhesion
IDA biological_process
GO:0010575 positive regulation of va
scular endothelial growth
factor production
IDA biological_process
GO:0030194 positive regulation of bl
ood coagulation
IDA biological_process
GO:0030200 heparan sulfate proteogly
can catabolic process
IDA biological_process
GO:0030305 heparanase activity
IDA molecular_function
GO:0030305 heparanase activity
TAS molecular_function
GO:0033690 positive regulation of os
teoblast proliferation
IDA biological_process
GO:0043202 lysosomal lumen
TAS cellular_component
GO:0043231 intracellular membrane-bo
unded organelle
IDA cellular_component
GO:0045545 syndecan binding
IDA molecular_function
GO:0046983 protein dimerization acti
vity
IDA molecular_function
GO:0051797 regulation of hair follic
le development
IDA biological_process
GO:0051897 positive regulation of pr
otein kinase B signaling
IDA biological_process

KEGG pathways

hsa01100  Metabolic pathways
hsa05205  Proteoglycans in cancer
hsa00531  Glycosaminoglycan degradation

Diseases

Associated diseases References
Recurrent pregnancy loss (RPL)/ Abortion/ Miscarriage/ Recurrent pregnancy failure/Pregnancy loss/ Recurrent miscarriage/ Spontaneous abortion PMID: 23907942
Cancer PMID: 17611567
Endometriosis PMID: 16762179
Myocardial infarction PMID: 11798780
Endometriosis INFBASE14989983
Unexplained miscarriages PMID: 23907942

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
14989983 Endometrio
sis

48 (23 patients
with endometri
osis, 25 eutopi
c endometrium o
f women without
endometriosis)
Female infertility Heparanase
Show abstract
17481627 Endometrio
sis

105 (91 eutopic
endometrial sp
ecimens, 14 ec
topic endometri
al specimens)
heparanase-1
Show abstract
16762179 Endometrio
sis
235
Hpa (108 (53 ec
topic endometri
um and 47 eutop
ic endometrium
specimens in th
e EM group, 8 n
ormal endometri
um specimens in
the control gr
oup), Ang-2 (12
7 (61 ectopic e
ndometrium, 56
eutopic endomet
rium specimens
in the EM group
,10 normal endo
metrium specime
Hpa
Ang-2
Show abstract
17141400 Endometrio
sis

116 (86 ectopic
and eutopic en
dometrium of pa
tients undergoi
ng laparoscopy
for endometrios
is, 30 normal e
ndometrium of p
atients undergo
ing laparoscopi
c tubal ligatio
n or hysterosco
pic resection b
ecause of uteru
s septus)
Hpa
Ang-2
Show abstract