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Aliases for HPN Gene

Aliases for HPN Gene

  • Hepsin 2 3 5
  • Transmembrane Protease Serine 1 3 4
  • EC 3.4.21.106 4 58
  • TMPRSS1 3 4
  • Transmembrane Protease, Serine 1 2
  • Testicular Tissue Protein Li 85 3
  • Serine Protease Hepsin 3
  • EC 3.4.21 58

External Ids for HPN Gene

Previous GeneCards Identifiers for HPN Gene

  • GC19P036148
  • GC19P035980
  • GC19P040207
  • GC19P040223
  • GC19P035531
  • GC19P032039

Summaries for HPN Gene

Entrez Gene Summary for HPN Gene

  • This gene encodes a type II transmembrane serine protease that may be involved in diverse cellular functions, including blood coagulation and the maintenance of cell morphology. Expression of the encoded protein is associated with the growth and progression of cancers, particularly prostate cancer. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

GeneCards Summary for HPN Gene

HPN (Hepsin) is a Protein Coding gene. Diseases associated with HPN include Prostate Cancer and Deafness, Autosomal Recessive 24. Among its related pathways are Viral carcinogenesis and MET promotes cell motility. GO annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is TMPRSS3.

UniProtKB/Swiss-Prot for HPN Gene

  • Serine protease that cleaves extracellular substrates, and contributes to the proteolytic processing of growth factors, such as HGF and MST1/HGFL (PubMed:21875933, PubMed:15839837). Plays a role in cell growth and maintenance of cell morphology (PubMed:8346233, PubMed:21875933). Plays a role in the proteolytic processing of ACE2 (PubMed:24227843). Mediates the proteolytic cleavage of urinary UMOD that is required for UMOD polymerization (PubMed:26673890).

Gene Wiki entry for HPN Gene

Additional gene information for HPN Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HPN Gene

Genomics for HPN Gene

Regulatory Elements for HPN Gene

Enhancers for HPN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H035066 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.1 +27.5 27533 3.2 HDGF ATF1 ARID4B FEZF1 ZNF2 YY1 ZNF143 ZNF207 KLF7 ATF7 LSM14A RBM42 HPN TMEM147-AS1 SCN1B ENSG00000267049 KMT2B HAUS5 ZBTB32 PROSER3
GH19H034972 2 FANTOM5 Ensembl ENCODE dbSUPER 11.6 -66.4 -66445 2.5 HDGF PKNOX1 ARID4B SIN3A ZNF2 YY1 SLC30A9 ZNF302 ZNF416 ZNF207 TMEM147-AS1 LSM14A PROSER3 ZNF599 ENSG00000267049 HAUS5 KIAA0355 ZNF181 KMT2B ZNF30
GH19H035113 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +77.5 77514 8.1 ZNF2 ZBTB7B TCF12 GLIS2 ZNF143 FOS KLF7 ATF7 SP3 REST LSM14A RBM42 PROSER3 KIAA0355 LINC01766 KMT2B ENSG00000221857 LINC00904 ENSG00000270544 ENSG00000271171
GH19H034975 1.5 FANTOM5 ENCODE dbSUPER 11.6 -64.4 -64442 0.2 HDAC1 ATF1 TBL1XR1 ARNT RAD21 TCF12 GATA2 EGR1 ATF7 CREM ZNF599 TMEM147-AS1 HAUS5 SCN1B HPN GRAMD1A ENSG00000179066 FXYD3 HPN-AS1 ZNF30
GH19H035090 1.3 Ensembl ENCODE dbSUPER 11.9 +50.3 50279 1 CTCF ZNF211 TBL1XR1 MAX RAD21 ZBTB48 PATZ1 ZNF169 ZNF416 SMC3 FXYD3 TMEM147-AS1 HPN SCN1B ZNF30 ZNF302 FAM187B ALKBH6 LOC100420797 ENSG00000179066
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HPN on UCSC Golden Path with GeneCards custom track

Genomic Locations for HPN Gene

Genomic Locations for HPN Gene
chr19:35,040,506-35,066,577
(GRCh38/hg38)
Size:
26,072 bases
Orientation:
Plus strand
chr19:35,531,410-35,557,477
(GRCh37/hg19)

Genomic View for HPN Gene

Genes around HPN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HPN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HPN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HPN Gene

Proteins for HPN Gene

  • Protein details for HPN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05981-HEPS_HUMAN
    Recommended name:
    Serine protease hepsin
    Protein Accession:
    P05981
    Secondary Accessions:
    • B2RDS4

    Protein attributes for HPN Gene

    Size:
    417 amino acids
    Molecular mass:
    45011 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for HPN Gene

neXtProt entry for HPN Gene

Selected DME Specific Peptides for HPN Gene

P05981:
  • DACQGDSGG
  • VLTAAHC
  • CCSRPKVAAL
  • PGVYTKV
  • CQGDSGGP
  • LTAAHCF
  • WVLTAAH
  • WPWQVSL

Post-translational modifications for HPN Gene

  • Glycosylation at isoforms=112
  • Modification sites at PhosphoSitePlus

Domains & Families for HPN Gene

Gene Families for HPN Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for HPN Gene

Graphical View of Domain Structure for InterPro Entry

P05981

UniProtKB/Swiss-Prot:

HEPS_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with HPN: view

Function for HPN Gene

Molecular function for HPN Gene

GENATLAS Biochemistry:
hepsin,cell membrane associated serine protease,activating factor VII
UniProtKB/Swiss-Prot CatalyticActivity:
Cleavage after basic amino-acid residues, with Arg strongly preferred to Lys.
UniProtKB/Swiss-Prot Function:
Serine protease that cleaves extracellular substrates, and contributes to the proteolytic processing of growth factors, such as HGF and MST1/HGFL (PubMed:21875933, PubMed:15839837). Plays a role in cell growth and maintenance of cell morphology (PubMed:8346233, PubMed:21875933). Plays a role in the proteolytic processing of ACE2 (PubMed:24227843). Mediates the proteolytic cleavage of urinary UMOD that is required for UMOD polymerization (PubMed:26673890).

Enzyme Numbers (IUBMB) for HPN Gene

Phenotypes From GWAS Catalog for HPN Gene

Gene Ontology (GO) - Molecular Function for HPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity TAS --
GO:0005515 protein binding IPI 15614436
GO:0008233 peptidase activity IDA 16908524
GO:0008236 serine-type peptidase activity TAS,IDA 19911255
GO:0015269 calcium-activated potassium channel activity ISS --
genes like me logo Genes that share ontologies with HPN: view
genes like me logo Genes that share phenotypes with HPN: view

Animal Models for HPN Gene

MGI Knock Outs for HPN:

Animal Model Products

miRNA for HPN Gene

miRTarBase miRNAs that target HPN

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HPN Gene

Localization for HPN Gene

Subcellular locations from UniProtKB/Swiss-Prot for HPN Gene

Cell membrane; Single-pass type II membrane protein. Apical cell membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HPN gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
lysosome 1

Gene Ontology (GO) - Cellular Components for HPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IDA 17918732
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 1885621
GO:0005911 cell-cell junction ISS --
GO:0009986 cell surface IDA 8346233
genes like me logo Genes that share ontologies with HPN: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HPN Gene

Pathways & Interactions for HPN Gene

genes like me logo Genes that share pathways with HPN: view

Pathways by source for HPN Gene

1 KEGG pathway for HPN Gene

Gene Ontology (GO) - Biological Process for HPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IDA 16908524
GO:0008360 regulation of cell shape IMP 8346233
GO:0010628 positive regulation of gene expression ISS --
GO:0010719 negative regulation of epithelial to mesenchymal transition IDA 19843851
GO:0010756 positive regulation of plasminogen activation IDA 16908524
genes like me logo Genes that share ontologies with HPN: view

No data available for SIGNOR curated interactions for HPN Gene

Drugs & Compounds for HPN Gene

(13) Drugs for HPN Gene - From: DrugBank, ClinicalTrials, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Coagulation factor VIIa Recombinant Human Approved Pharma Target 0
Sorbitol Approved Pharma 39
Taurine Approved Nutra 28
6-Chloro-2-(2-Hydroxy-Biphenyl-3-Yl)-1h-Indole-5-Carboxamidine Experimental Pharma Target 0
Benzylsulfinic Acid Experimental Pharma Target 0

(1) Additional Compounds for HPN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HPN: view

Transcripts for HPN Gene

Unigene Clusters for HPN Gene

Hepsin:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HPN Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: - - - -
SP2: - - -
SP3: -
SP4: - - -
SP5: - -
SP6: - - - - - - -
SP7: -
SP8:

Relevant External Links for HPN Gene

GeneLoc Exon Structure for
HPN
ECgene alternative splicing isoforms for
HPN

Expression for HPN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HPN Gene

mRNA differential expression in normal tissues according to GTEx for HPN Gene

This gene is overexpressed in Liver (x28.3), Pancreas (x8.8), and Kidney - Cortex (x7.8).

Protein differential expression in normal tissues from HIPED for HPN Gene

This gene is overexpressed in Skin (36.5), Plasma (16.1), and Urine (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HPN Gene



Protein tissue co-expression partners for HPN Gene

NURSA nuclear receptor signaling pathways regulating expression of HPN Gene:

HPN

SOURCE GeneReport for Unigene cluster for HPN Gene:

Hs.182385

mRNA Expression by UniProt/SwissProt for HPN Gene:

P05981-HEPS_HUMAN
Tissue specificity: Detected in liver and kidney.

Evidence on tissue expression from TISSUES for HPN Gene

  • Liver(4.7)
  • Pancreas(4.4)
  • Spleen(4)
  • Kidney(2.6)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with HPN: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for HPN Gene

Orthologs for HPN Gene

This gene was present in the common ancestor of animals.

Orthologs for HPN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HPN 33 34
  • 99.84 (n)
dog
(Canis familiaris)
Mammalia HPN 33 34
  • 90.33 (n)
cow
(Bos Taurus)
Mammalia HPN 33 34
  • 90.09 (n)
oppossum
(Monodelphis domestica)
Mammalia HPN 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hpn 33 16 34
  • 84.67 (n)
rat
(Rattus norvegicus)
Mammalia Hpn 33
  • 84.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HPN 34
  • 12 (a)
OneToOne
chicken
(Gallus gallus)
Aves HPN 34
  • 34 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HPN 34
  • 68 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:dkey-33i11.3 33
  • 59.04 (n)
HPN (1 of 2) 34
  • 51 (a)
OneToMany
HPN (2 of 2) 34
  • 50 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004568 33
  • 48.54 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4613 35
  • 41 (a)
CG11824 35
  • 40 (a)
CG3355 35
  • 39 (a)
CG11836 35
  • 38 (a)
mas 35
  • 38 (a)
Sb 35
  • 38 (a)
CG11192 35
  • 37 (a)
CG4386 35
  • 37 (a)
eegrTry 35
  • 37 (a)
CG6041 35
  • 36 (a)
zgrTry 35
  • 36 (a)
CG7829 35
  • 34 (a)
Tequila 35
  • 34 (a)
CG1299 35
  • 33 (a)
worm
(Caenorhabditis elegans)
Secernentea C07G1.1 35
  • 36 (a)
Species where no ortholog for HPN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for HPN Gene

ENSEMBL:
Gene Tree for HPN (if available)
TreeFam:
Gene Tree for HPN (if available)

Paralogs for HPN Gene

Variants for HPN Gene

Sequence variations from dbSNP and Humsavar for HPN Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs72550247 Pathogenic 35,039,125(+) ACAGA(A/G)ACATG upstream-variant-2KB, reference, missense
rs786205835 Pathogenic 35,039,116(+) CTGCA(A/G)CCAAC upstream-variant-2KB, splice-acceptor-variant
rs28365106 Likely benign 35,039,713(+) TAAGG(C/T)GGATG intron-variant, upstream-variant-2KB
rs77106213 Likely benign 35,039,684(+) CGGGC(A/G)TCCAG upstream-variant-2KB, reference, missense
rs786205829 Likely benign 35,039,108(+) CCTGG(A/C)CCCTG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for HPN Gene

Variant ID Type Subtype PubMed ID
nsv1147961 CNV deletion 26484159
nsv1129392 OTHER inversion 24896259
nsv1123248 CNV deletion 24896259
esv2718489 CNV deletion 23290073

Variation tolerance for HPN Gene

Residual Variation Intolerance Score: 39.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.52; 29.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HPN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HPN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HPN Gene

Disorders for HPN Gene

MalaCards: The human disease database

(4) MalaCards diseases for HPN Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
prostate cancer
  • prostate cancer, hereditary, 5
deafness, autosomal recessive 24
  • autosomal recessive nonsyndromic deafness 24
deafness, autosomal recessive 25
  • autosomal recessive nonsyndromic deafness 25
male reproductive organ cancer
  • male genital cancer
- elite association - COSMIC cancer census association via MalaCards
Search HPN in MalaCards View complete list of genes associated with diseases

Relevant External Links for HPN

Genetic Association Database (GAD)
HPN
Human Genome Epidemiology (HuGE) Navigator
HPN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HPN
genes like me logo Genes that share disorders with HPN: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HPN Gene

Publications for HPN Gene

  1. Association of hepsin gene variants with prostate cancer risk and prognosis. (PMID: 20166135) Holt SK … Stanford JL (The Prostate 2010) 3 22 45 60
  2. Genes involved in the transforming growth factor beta signalling pathway and the risk of intracranial aneurysms. (PMID: 18487557) Ruigrok YM … Wijmenga C (Journal of neurology, neurosurgery, and psychiatry 2008) 3 22 45 60
  3. Variants in the HEPSIN gene are associated with prostate cancer in men of European origin. (PMID: 16783571) Pal P … Deka R (Human genetics 2006) 3 22 45 60
  4. Hepatocyte growth factor is a preferred in vitro substrate for human hepsin, a membrane-anchored serine protease implicated in prostate and ovarian cancers. (PMID: 15839837) Herter S … Austin RJ (The Biochemical journal 2005) 3 4 22 60
  5. Analysis of candidate genes for prostate cancer. (PMID: 15583422) Burmester JK … Catalona WJ (Human heredity 2004) 3 22 45 60

Products for HPN Gene

Sources for HPN Gene

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