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HPSE heparanase [ Homo sapiens (human) ]

Gene ID: 10855, updated on 27-Nov-2024

Summary

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Official Symbol
HPSEprovided by HGNC
Official Full Name
heparanaseprovided by HGNC
Primary source
HGNC:HGNC:5164
See related
Ensembl:ENSG00000173083 MIM:604724; AllianceGenome:HGNC:5164
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HPA; HPA1; HPR1; HSE1; HPSE1
Summary
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]
Expression
Ubiquitous expression in appendix (RPKM 3.0), esophagus (RPKM 2.9) and 24 other tissues See more
Orthologs
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Genomic context

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See HPSE in Genome Data Viewer
Location:
4q21.23
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (83292461..83335153, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (86622557..86665251, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (84213614..84256306, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene aminomethyltransferase pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21686 Neighboring gene Sharpr-MPRA regulatory region 13773 Neighboring gene coenzyme Q2, polyprenyltransferase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:84210168-84210668 Neighboring gene uncharacterized LOC105377313 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:84237230-84238429 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:84242552-84242745 Neighboring gene Sharpr-MPRA regulatory region 10996 Neighboring gene C18orf21 pseudogene 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:84309555-84310754 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:84311240-84312057 Neighboring gene helicase, POLQ like Neighboring gene Sharpr-MPRA regulatory region 5990

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Tumorigenic and adhesive properties of heparanase. Levy-Adam F, et al. Semin Cancer Biol, 2010 Jun. PMID 20619346, Free PMC Article
  2. Heparanase expression of glioma in human and animal models. Hong X, et al. J Neurosurg, 2010 Aug. PMID 19835469
  3. Stable knockdown of heparanase expression in gastric cancer cells in vitro. Zheng LD, et al. World J Gastroenterol, 2009 Nov 21. PMID 19916174, Free PMC Article
  4. Quantitative analysis of heparanase gene expression in normal cervical, cervical intraepithelial neoplastic, and cervical carcinoma tissues. Varchalama E, et al. Int J Gynecol Cancer, 2009 Dec. PMID 19955948
  5. A novel human heparanase splice variant, T5, endowed with protumorigenic characteristics. Barash U, et al. FASEB J, 2010 Apr. PMID 20007507, Free PMC Article

See all (379) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Heparanase Stimulation of Physiologic Cardiac Hypertrophy Is Suppressed After Chronic Diabetes, Resulting in Cardiac Remodeling and Dysfunction.
    Title: Heparanase Stimulation of Physiologic Cardiac Hypertrophy Is Suppressed After Chronic Diabetes, Resulting in Cardiac Remodeling and Dysfunction.
  2. Regulatory T cells use heparanase to access IL-2 bound to extracellular matrix in inflamed tissue.
    Title: Regulatory T cells use heparanase to access IL-2 bound to extracellular matrix in inflamed tissue.
  3. Effect of HPSE and HPSE2 SNPs on the Risk of Developing Primary Paraskeletal Multiple Myeloma.
    Title: Effect of HPSE and HPSE2 SNPs on the Risk of Developing Primary Paraskeletal Multiple Myeloma.
  4. Heparanase promotes malignant phenotypes of human oral squamous carcinoma cells by regulating the epithelial-mesenchymal transition-related molecules and infiltrated levels of natural killer cells.
    Title: Heparanase promotes malignant phenotypes of human oral squamous carcinoma cells by regulating the epithelial-mesenchymal transition-related molecules and infiltrated levels of natural killer cells.
  5. Ethnic differences in urinary monocyte chemoattractant protein-1 and heparanase-1 levels in individuals with type 2 diabetes: the HELIUS study.
    Title: Ethnic differences in urinary monocyte chemoattractant protein-1 and heparanase-1 levels in individuals with type 2 diabetes: the HELIUS study.
  6. Single-Cell Sequencing Analysis and Multiple Machine Learning Methods Identified G0S2 and HPSE as Novel Biomarkers for Abdominal Aortic Aneurysm.
    Title: Single-Cell Sequencing Analysis and Multiple Machine Learning Methods Identified G0S2 and HPSE as Novel Biomarkers for Abdominal Aortic Aneurysm.
  7. Heparanase-Induced Activation of AKT Stabilizes beta-Catenin and Modulates Wnt/beta-Catenin Signaling during Herpes Simplex Virus 1 Infection.
    Title: Heparanase-Induced Activation of AKT Stabilizes β-Catenin and Modulates Wnt/β-Catenin Signaling during Herpes Simplex Virus 1 Infection.
  8. Insulin-like growth factor 2 mRNA binding protein 2 regulates proliferation, migration, and angiogenesis of keratinocytes by modulating heparanase stability.
    Title: Insulin-like growth factor 2 mRNA binding protein 2 regulates proliferation, migration, and angiogenesis of keratinocytes by modulating heparanase stability.
  9. CMV Seropositive Status Increases Heparanase SNPs Regulatory Activity, Risk of Acute GVHD and Yield of CD34(+) Cell Mobilization.
    Title: CMV Seropositive Status Increases Heparanase SNPs Regulatory Activity, Risk of Acute GVHD and Yield of CD34(+) Cell Mobilization.
  10. The Heparanase Regulatory Network in Health and Disease.
    Title: The Heparanase Regulatory Network in Health and Disease.
Submit: New GeneRIF Correction See all GeneRIFs (337)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat Treatment of synaptosomes with heparanase and HIV-1 Tat increases Tat-induced oxidative stress, which indicates the requirement of Tat interaction with neuronal membranes to induce oxidative damage PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables beta-glucuronidase activity TAS
Traceable Author Statement
more info
 PubMed 
contributes_to heparanase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables heparanase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables syndecan binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in angiogenesis involved in wound healing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell-matrix adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell-matrix adhesion IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in establishment of endothelial barrier IEA
Inferred from Electronic Annotation
more info
  
involved_in heparan sulfate proteoglycan catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in heparin metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of blood coagulation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of hair follicle development IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of osteoblast proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of vascular endothelial growth factor production IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in proteoglycan metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of hair follicle development IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to antibiotic IEA
Inferred from Electronic Annotation
more info
  
involved_in vascular wound healing IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular region TAS
Traceable Author Statement
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of heparanase complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in lysosomal lumen TAS
Traceable Author Statement
more info
  
located_in lysosomal membrane IEA
Inferred from Electronic Annotation
more info
  
located_in lysosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane raft IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in specific granule lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
heparanase
Names
endo-glucoronidase
heparanase-1
NP_001092010.1
NP_001159970.1
NP_001186759.1
NP_006656.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028037.1 RefSeqGene

    Range
    5306..47693
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001098540.3 → NP_001092010.1  heparanase isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_001092010.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AC114781, AF144325, AF152376, AW293069
    Consensus CDS
    CCDS3602.1
    UniProtKB/Swiss-Prot
    A9JIG7, C7F7I3, C7F7I4, E9PCA9, E9PGR1, Q53GE5, Q9UL39, Q9Y251
    UniProtKB/TrEMBL
    B3KQR6
    Related
    ENSP00000308107.5, ENST00000311412.10
    Conserved Domains (1) summary
    pfam03662
    Location:171 → 370
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain

  2. NM_001166498.3 → NP_001159970.1  heparanase isoform 2 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two exons in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the identical N- and C-termini compared to isoform 1.
    Source sequence(s)
    AC114781, AF152376, AW293069, GQ337901
    Consensus CDS
    CCDS54774.1
    UniProtKB/TrEMBL
    B3KQR6
    Related
    ENSP00000423265.1, ENST00000512196.5
    Conserved Domains (1) summary
    pfam03662
    Location:171 → 330
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain

  3. NM_001199830.1 → NP_001186759.1  heparanase isoform 3 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an in-frame exon in the 5' coding region compared to variant 1. The resulting protein (isoform 3) is shorter but has the identical N- and C- termini compared to isoform 1.
    Source sequence(s)
    AC114781, AM419200, AW293069
    Consensus CDS
    CCDS56337.1
    UniProtKB/TrEMBL
    B3KQR6
    Related
    ENSP00000421365.1, ENST00000513463.1
    Conserved Domains (1) summary
    pfam03662
    Location:179 → 312
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain

  4. NM_006665.6 → NP_006656.2  heparanase isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_006656.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AC114781, AF152376, AW293069, BC051321
    Consensus CDS
    CCDS3602.1
    UniProtKB/Swiss-Prot
    A9JIG7, C7F7I3, C7F7I4, E9PCA9, E9PGR1, Q53GE5, Q9UL39, Q9Y251
    UniProtKB/TrEMBL
    B3KQR6
    Related
    ENSP00000384262.2, ENST00000405413.6
    Conserved Domains (1) summary
    pfam03662
    Location:171 → 370
    Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    83292461..83335153 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    86622557..86665251 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y251.2 GenPept UniProtKB/Swiss-Prot:Q9Y251

Gene LinkOut

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