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mutLBSgeneDB |
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| Gene summary for HPSE |
 Gene summary |
| Basic gene Info. | Gene symbol | HPSE |
| Gene name | heparanase | |
| Synonyms | HPA|HPA1|HPR1|HPSE1|HSE1 | |
| Cytomap | UCSC genome browser: 4q21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001098540.2, NM_001166498.2,NM_001199830.1,NM_006665.5, | |
| Description | endo-glucoronidaseheparanase-1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604724 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000173083 | ||
| HPRD : 05286 | ||
| Vega : OTTHUMG00000130425 | ||
| Protein | UniProt: Q9Y251 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HPSE | |
| BioGPS: 10855 | ||
| Pathway | NCI Pathway Interaction Database: HPSE | |
| KEGG: HPSE | ||
| REACTOME: HPSE | ||
| Pathway Commons: HPSE | ||
| Context | iHOP: HPSE | |
| ligand binding site mutation search in PubMed: HPSE | ||
| UCL Cancer Institute: HPSE | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0007160 | cell-matrix adhesion | 12773484 | GO:0010575 | positive regulation vascular endothelial growth factor production | 16452201 | GO:0030194 | positive regulation of blood coagulation | 20634491 | GO:0030200 | heparan sulfate proteoglycan catabolic process | 12213822 | GO:0033690 | positive regulation of osteoblast proliferation | 20309870 | GO:0051797 | regulation of hair follicle development | 18557927 | GO:0051897 | positive regulation of protein kinase B signaling | 15044433 |
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| Ligand binding site mutations for HPSE |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | G269 | V268A | COAD | 3 | Q383 | M381K | BRCA | 1 | G350 | A352E | COAD | 1 | G350 | A352V | COAD | 1 | Y348 | Y348H | COAD | 1 | Y348 | S346P | COAD | 1 | G269 | V268I | COAD | 1 | G269 | V268I | OV | 1 | R272 | R272Q | SKCM | 1 | Y298,H296 | H297R | STAD | 1 | K462 | K462T | STAD | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for HPSE |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | G350 | A352V | 0.28217616 | G350 | A352E | 0.210548 | Y348 | Y348H | -1.2623015 | G269 | V268A | -1.2489687 | R272 | R272Q | -1.0088323 | Q383 | M381K | -0.9885887 | G269 | V268I | -0.7946474 | K462 | K462T | -0.64027169 | Y298 | H297R | -0.38768897 | H296 | H297R | -0.38768897 | Y348 | S346P | -0.16397642 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for HPSE from PDB |
| PDB ID | PDB title | PDB structure | PDB not available for this protein |  |
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| Differential gene expression and gene-gene network for HPSE |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for HPSE |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0027627 | Neoplasm Metastasis | 91 | AlteredExpression, Biomarker |
| umls:C0025202 | Melanoma | 15 | AlteredExpression, Biomarker |
| umls:C1458155 | Breast Neoplasms | 3 | AlteredExpression, Biomarker |
| umls:C0023893 | Liver Cirrhosis, Experimental | 2 | Biomarker |
| umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
| umls:C0027626 | Neoplasm Invasiveness | 1 | Biomarker |
| umls:C0027720 | Nephrosis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for HPSE |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of HPSE go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 5KV | 2-DEOXY-6-O-SULFO-2-(SULFOAMINO)-BETA-D-GLUCOPYRANOSE | 5e9c | A | G269 R272 H296 Y298 Y348 | GNS | N-SULFO-ALPHA-D-GLUCOSAMINE | 5e98 | A | G350 | SGN | N,O6-DISULFO-GLUCOSAMINE | 5e9b | A | G350 | SGN | N,O6-DISULFO-GLUCOSAMINE | 5e9c | A | G350 Q383 | FUC | ALPHA-L-FUCOPYRANOSE | 5e8m | A | K462 | NPO | 4-NITROPHENOL | 5e97 | A | Y298 Y348 | NPO | 4-NITROPHENOL | 5e98 | A | Y298 Y348 | IDR | L-IDURONIC ACID | 5e9c | A | Y298 Y348 G350 | BDP | BETA-D-GLUCURONIC ACID | 5e97 | A | Y348 G350 | BDP | BETA-D-GLUCURONIC ACID | 5e98 | A | Y348 G350 | BDP | BETA-D-GLUCURONIC ACID | 5e9b | A | Y348 G350 |
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| Conservation information for LBS of HPSE |
| Multiple alignments for Q9Y251 in multiple species |
| LBS | AA sequence | # species | Species | A388 | QVFFGAGNYHL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A388 | QSLIG-GNYGL | 1 | Arabidopsis thaliana | A388 | QVSFGAGSYHL | 1 | Gallus gallus | A388 | QVLFGAGNYHL | 1 | Bos taurus | D62 | LSITID----- | 2 | Mus musculus, Rattus norvegicus | D62 | LSVTID----- | 1 | Homo sapiens | D62 | ICATLDWWPPE | 1 | Arabidopsis thaliana | D62 | LSLTLD----- | 1 | Gallus gallus | D62 | LSFTID----- | 1 | Bos taurus | E225 | WELGNEPNSFW | 2 | Mus musculus, Rattus norvegicus | E225 | WELGNEPNSFL | 1 | Homo sapiens | E225 | WELGNELCG-- | 1 | Arabidopsis thaliana | E225 | WELGNEPNSFR | 1 | Gallus gallus | E225 | WELGNEPNSFQ | 1 | Bos taurus | E343 | KVWLGETSSAY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E343 | VAWVGESGGAY | 1 | Arabidopsis thaliana | E343 | KVWLGETGSAY | 1 | Gallus gallus | E343 | KVWLGETSSAF | 1 | Bos taurus | F160 | HYQKKFKNSTY | 1 | Homo sapiens | F160 | -----YTQGCL | 1 | Arabidopsis thaliana | F160 | HSWKKHKNTTI | 1 | Gallus gallus | F160 | QYQKEFKNSTY | 1 | Mus musculus | F160 | QYQREFKNSTY | 1 | Rattus norvegicus | F160 | QYQKKFTNSTY | 1 | Bos taurus | G269 | YGPDIGQPRGK | 2 | Mus musculus, Rattus norvegicus | G269 | YGPDVGQPRRK | 1 | Homo sapiens | G269 | MPLVIGPGGFF | 1 | Arabidopsis thaliana | G269 | YGLDVGQPRKH | 1 | Gallus gallus | G269 | YGPDIGQPRRN | 1 | Bos taurus | G349 | TSSAYGGGAPL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G349 | SGGAYNSGRNL | 1 | Arabidopsis thaliana | G349 | TGSAYGGGAPQ | 1 | Gallus gallus | G349 | TSSAFGGGAPF | 1 | Bos taurus | G350 | SSAYGGGAPLL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G350 | GGAYNSGRNLV | 1 | Arabidopsis thaliana | G350 | GSAYGGGAPQL | 1 | Gallus gallus | G350 | SSAFGGGAPFL | 1 | Bos taurus | G389 | VFFGAGNYHLV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G389 | SLIG-GNYGLL | 1 | Arabidopsis thaliana | G389 | VSFGAGSYHLV | 1 | Gallus gallus | G389 | VLFGAGNYHLV | 1 | Bos taurus | G96 | YLRFGGTKTDF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G96 | KIRIGGTLQDI | 1 | Arabidopsis thaliana | G96 | FLRFGGTSTDF | 1 | Gallus gallus | G96 | YLRFGGNKGDF | 1 | Bos taurus | H296 | DSVTWHHYYVN | 2 | Gallus gallus, Bos taurus | H296 | DSLTWHHYYLN | 2 | Mus musculus, Rattus norvegicus | H296 | DSVTWHHYYLN | 1 | Homo sapiens | H296 | NATTRHIYDLG | 1 | Arabidopsis thaliana | H458 | YVLNLHNVTK- | 2 | Mus musculus, Rattus norvegicus | H458 | YAINLHNVTK- | 1 | Homo sapiens | H458 | LLMNLDNTTTV | 1 | Arabidopsis thaliana | H458 | FALNLSNVTQ- | 1 | Gallus gallus | H458 | YALNLHNVTK- | 1 | Bos taurus | K159 | EHYQKKFKNST | 1 | Homo sapiens | K159 | ------YTQGC | 1 | Arabidopsis thaliana | K159 | EHSWKKHKNTT | 1 | Gallus gallus | K159 | EQYQKEFKNST | 1 | Mus musculus | K159 | EQYQREFKNST | 1 | Rattus norvegicus | K159 | EQYQKKFTNST | 1 | Bos taurus | K462 | LHNVTK----- | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | K462 | LDNTTTVVAKV | 1 | Arabidopsis thaliana | K462 | LSNVTQ----- | 1 | Gallus gallus | N224 | SWELGNEPNSF | 5 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Bos taurus | N224 | GWELGNELCG- | 1 | Arabidopsis thaliana | N459 | VLNLHNVTK-- | 2 | Mus musculus, Rattus norvegicus | N459 | AINLHNVTK-- | 1 | Homo sapiens | N459 | LMNLDNTTTVV | 1 | Arabidopsis thaliana | N459 | ALNLSNVTQ-- | 1 | Gallus gallus | N459 | ALNLHNVTK-- | 1 | Bos taurus | N64 | ----ANLATDP | 2 | Homo sapiens, Bos taurus | N64 | ----ASLATDP | 2 | Mus musculus, Rattus norvegicus | N64 | DYGSCSWDHAS | 1 | Arabidopsis thaliana | N64 | ----ASLARDP | 1 | Gallus gallus | Q270 | GPDIGQPRGKT | 2 | Mus musculus, Rattus norvegicus | Q270 | GPDVGQPRRKT | 1 | Homo sapiens | Q270 | PLVIGPGGFFE | 1 | Arabidopsis thaliana | Q270 | GLDVGQPRKHT | 1 | Gallus gallus | Q270 | GPDIGQPRRNT | 1 | Bos taurus | Q383 | EVVMRQVFFGA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q383 | KTYCRQSLIG- | 1 | Arabidopsis thaliana | Q383 | DVVMRQVSFGA | 1 | Gallus gallus | Q383 | EVVMRQVLFGA | 1 | Bos taurus | R272 | DIGQPRGKTVK | 2 | Mus musculus, Rattus norvegicus | R272 | DVGQPRRKTAK | 1 | Homo sapiens | R272 | VIGPGGFFEVD | 1 | Arabidopsis thaliana | R272 | DVGQPRKHTQH | 1 | Gallus gallus | R272 | DIGQPRRNTVK | 1 | Bos taurus | T97 | LRFGGTKTDFL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T97 | IRIGGTLQDIV | 1 | Arabidopsis thaliana | T97 | LRFGGTSTDFL | 1 | Gallus gallus | T97 | LRFGGNKGDFL | 1 | Bos taurus | V384 | VVMRQVFFGAG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V384 | TYCRQSLIG-G | 1 | Arabidopsis thaliana | V384 | VVMRQVSFGAG | 1 | Gallus gallus | V384 | VVMRQVLFGAG | 1 | Bos taurus | V460 | LNLHNVTK--- | 3 | Mus musculus, Rattus norvegicus, Bos taurus | V460 | INLHNVTK--- | 1 | Homo sapiens | V460 | MNLDNTTTVVA | 1 | Arabidopsis thaliana | V460 | LNLSNVTQ--- | 1 | Gallus gallus | Y298 | VTWHHYYVNGR | 2 | Gallus gallus, Bos taurus | Y298 | LTWHHYYLNGR | 2 | Mus musculus, Rattus norvegicus | Y298 | VTWHHYYLNGR | 1 | Homo sapiens | Y298 | TTRHIYDLGPG | 1 | Arabidopsis thaliana | Y348 | ETSSAYGGGAP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y348 | ESGGAYNSGRN | 1 | Arabidopsis thaliana | Y348 | ETGSAYGGGAP | 1 | Gallus gallus | Y348 | ETSSAFGGGAP | 1 | Bos taurus | Y391 | FGAGNYHLVD- | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Y391 | IG-GNYGLLNT | 1 | Arabidopsis thaliana | Y391 | FGAGSYHLVD- | 1 | Gallus gallus |
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