HPSE heparanase [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
The Heparanase Regulatory Network in Health and Disease.
Title: The Heparanase Regulatory Network in Health and Disease.

Submit: New GeneRIF Correction See all GeneRIFs (338)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D4S3088 (e-PCR)
- UniSTS:57383

SHGC4-751 (e-PCR)
- UniSTS:91440

RH94313 (e-PCR)
- UniSTS:85824

D4S395 (e-PCR), detects polymorphism
- UniSTS:61766

D1S1423 (e-PCR)
- UniSTS:149619

G16722 (e-PCR)
- UniSTS:25750

SHGC-60112 (e-PCR)
- UniSTS:12258

D4S2824 (e-PCR)
- UniSTS:70390

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

EC 3.2.1.166

NP_001159970.1

EC 3.2.1.166

NP_001186759.1

EC 3.2.1.166

NP_006656.2

EC 3.2.1.166

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

NG_028037.1 RefSeqGene

Range

5306..47693

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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