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    HPSE heparanase [ Homo sapiens (human) ]

    Gene ID: 10855, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001098540.3NP_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:171370
      Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
    2. NM_001166498.3NP_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:171330
      Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
    3. NM_001199830.1NP_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:179312
      Glyco_hydro_79n; Glycosyl hydrolase family 79, N-terminal domain
    4. NM_006665.6NP_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:171370
      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)