InnateDB Protein
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IDBP-85958.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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HPSE2
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Protein Name
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heparanase 2
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000359583
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InnateDB Gene
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IDBG-85956 (HPSE2)
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Protein Structure
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Function |
Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity. Inhibits HPSE, possibly by competing for its substrates (in vitro). {ECO:0000269PubMed:20576607}.
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Subcellular Localization |
Secreted, extracellular space, extracellular matrix {ECO:0000269PubMed:20576607}.
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Disease Associations |
Urofacial syndrome 1 (UFS1) [MIM:236730]: A rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure. {ECO:0000269PubMed:20560209, ECO:0000269PubMed:20560210}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed, with the highest expression in brain, mammary gland, prostate, small intestine, testis and uterus. In the central nervous system, expressed in the spinal chord, caudate nucleus, thalamus, substantia nigra, medulla oblongata, putamen and pons. In the urinary bladder, expressed in longitudinal and circular layers of detrusor muscle. Found both in normal and cancer tissues. {ECO:0000269PubMed:11027606, ECO:0000269PubMed:20560210}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
Accession |
GO Term |
GO:0016798
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hydrolase activity, acting on glycosyl bonds
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GO:0030305
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heparanase activity
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GO:0043395
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heparan sulfate proteoglycan binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR005199
Glycoside hydrolase, family 79
IPR017853
Glycoside hydrolase, superfamily
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PFAM |
PF03662
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8WWQ2
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PhosphoSite |
PhosphoSite-Q8WWQ2
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
60495
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UniGene |
Hs.500750
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RefSeq |
NP_068600
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HUGO |
HGNC:18374
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OMIM |
613469
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CCDS |
CCDS7477
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HPRD |
13669
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IMGT |
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EMBL |
AF282885
AF282886
AF282887
AJ299719
AJ299720
AL139243
AL356220
AL356268
AL445251
AL590036
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GenPept |
AAG23421
AAG23422
AAG23423
CAC82491
CAC82492
CAH70448
CAH70449
CAH70450
CAH73137
CAH73138
CAH73139
CAI14146
CAI14147
CAI14148
CAI16472
CAI16473
CAI16474
CAI17160
CAI17161
CAI17162
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