Human Gene HPN (ENST00000392226.5) from GENCODE V44
  Description: Homo sapiens hepsin (HPN), transcript variant 2, mRNA. (from RefSeq NM_002151)
RefSeq Summary (NM_002151): 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].
Gencode Transcript: ENST00000392226.5
Gencode Gene: ENSG00000105707.15
Transcript (Including UTRs)
   Position: hg38 chr19:35,040,506-35,066,571 Size: 26,066 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg38 chr19:35,042,507-35,066,287 Size: 23,781 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:35,040,506-35,066,571)mRNA (may differ from genome)Protein (417 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HEPS_HUMAN
DESCRIPTION: RecName: Full=Serine protease hepsin; EC=3.4.21.106; AltName: Full=Transmembrane protease serine 1; Contains: RecName: Full=Serine protease hepsin non-catalytic chain; Contains: RecName: Full=Serine protease hepsin catalytic chain;
FUNCTION: Plays an essential role in cell growth and maintenance of cell morphology. May mediate the activating cleavage of HGF and MST1/HGFL.
CATALYTIC ACTIVITY: Cleavage after basic amino-acid residues, with Arg strongly preferred to Lys.
SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein.
TISSUE SPECIFICITY: Present in most tissues, with the highest level in liver.
SIMILARITY: Belongs to the peptidase S1 family.
SIMILARITY: Contains 1 peptidase S1 domain.
SIMILARITY: Contains 1 SRCR domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HPN
Diseases sorted by gene-association score: prostate cancer (5), deafness, autosomal recessive 24 (2), deafness, autosomal recessive 25 (2), male reproductive organ cancer (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 275.00 RPKM in Liver
Total median expression: 570.13 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -106.50245-0.435 Picture PostScript Text
3' UTR -101.10284-0.356 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015352 - Hepsin-SRCR
IPR009003 - Pept_cys/ser_Trypsin-like
IPR018114 - Peptidase_S1/S6_AS
IPR001254 - Peptidase_S1_S6
IPR001314 - Peptidase_S1A
IPR017448 - Srcr_rcpt-rel

Pfam Domains:
PF09272 - Hepsin, SRCR
PF00089 - Trypsin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1O5E - X-ray MuPIT 1O5F - X-ray MuPIT 1P57 - X-ray MuPIT 1Z8G - X-ray MuPIT 3T2N - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P05981
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004252 serine-type endopeptidase activity
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008236 serine-type peptidase activity
GO:0015269 calcium-activated potassium channel activity
GO:0016787 hydrolase activity
GO:0070008 serine-type exopeptidase activity

Biological Process:
GO:0006508 proteolysis
GO:0008360 regulation of cell shape
GO:0010628 positive regulation of gene expression
GO:0010719 negative regulation of epithelial to mesenchymal transition
GO:0010756 positive regulation of plasminogen activation
GO:0030307 positive regulation of cell growth
GO:0034769 basement membrane disassembly
GO:0043066 negative regulation of apoptotic process
GO:0043923 positive regulation by host of viral transcription
GO:0048012 hepatocyte growth factor receptor signaling pathway
GO:0050680 negative regulation of epithelial cell proliferation
GO:0050910 detection of mechanical stimulus involved in sensory perception of sound
GO:0071805 potassium ion transmembrane transport
GO:0090103 cochlea morphogenesis
GO:0097066 response to thyroid hormone
GO:0097195 pilomotor reflex
GO:2000347 positive regulation of hepatocyte proliferation
GO:2000611 positive regulation of thyroid hormone generation

Cellular Component:
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005911 cell-cell junction
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0043025 neuronal cell body
GO:0070062 extracellular exosome
GO:0031965 nuclear membrane


-  Descriptions from all associated GenBank mRNAs
  M18930 - Human hepsin mRNA, complete cds.
X07732 - Human hepatoma mRNA for serine protease hepsin.
BC025716 - Homo sapiens hepsin, mRNA (cDNA clone MGC:34588 IMAGE:5228525), complete cds.
JD123402 - Sequence 104426 from Patent EP1572962.
JD116497 - Sequence 97521 from Patent EP1572962.
AK315655 - Homo sapiens cDNA, FLJ96746, Homo sapiens hepsin (transmembrane protease, serine 1) (HPN),transcript variant 2, mRNA.
JD200779 - Sequence 181803 from Patent EP1572962.
JD195819 - Sequence 176843 from Patent EP1572962.
JD478893 - Sequence 459917 from Patent EP1572962.
JD121935 - Sequence 102959 from Patent EP1572962.
HM005398 - Homo sapiens clone HTL-T-85 testicular tissue protein Li 85 mRNA, complete cds.
CU693028 - Synthetic construct Homo sapiens gateway clone IMAGE:100019300 5' read HPN mRNA.
DQ892119 - Synthetic construct clone IMAGE:100004749; FLH183205.01X; RZPDo839H04140D hepsin (transmembrane protease, serine 1) (HPN) gene, encodes complete protein.
DQ895314 - Synthetic construct Homo sapiens clone IMAGE:100009774; FLH183201.01L; RZPDo839H04139D hepsin (transmembrane protease, serine 1) (HPN) gene, encodes complete protein.
KJ897004 - Synthetic construct Homo sapiens clone ccsbBroadEn_06398 HPN gene, encodes complete protein.
EU644753 - Homo sapiens truncated hepsin serine protease mRNA, complete cds.
AK293622 - Homo sapiens cDNA FLJ57261 complete cds, highly similar to Serine protease hepsin (EC 3.4.21.-).
AK095160 - Homo sapiens cDNA FLJ37841 fis, clone BRSSN2012081, highly similar to SERINE PROTEASE HEPSIN (EC 3.4.21.-).
AK125670 - Homo sapiens cDNA FLJ43682 fis, clone TBAES2001258, weakly similar to SERINE PROTEASE HEPSIN (EC 3.4.21.-).
X07002 - H.sapiens liver mRNA for serine protease hepsin.
AK091988 - Homo sapiens cDNA FLJ34669 fis, clone LIVER2001051.
AX747294 - Sequence 819 from Patent EP1308459.
JD117441 - Sequence 98465 from Patent EP1572962.
JD078605 - Sequence 59629 from Patent EP1572962.
JD211370 - Sequence 192394 from Patent EP1572962.
JD093211 - Sequence 74235 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P05981 (Reactome details) participates in the following event(s):

R-HSA-6800198 HPN heterodimer cleaves pro-MST1 to form MST1 dimer
R-HSA-6800200 HPN heterodimer cleaves pro-HGF to form HGF dimer
R-HSA-8852405 Signaling by MST1
R-HSA-6806942 MET Receptor Activation
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-6806834 Signaling by MET
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B2RDS4, ENST00000392226.1, ENST00000392226.2, ENST00000392226.3, ENST00000392226.4, HEPS_HUMAN, NM_002151, P05981, TMPRSS1, uc002nxq.1, uc002nxq.2, uc002nxq.3
UCSC ID: ENST00000392226.5
RefSeq Accession: NM_002151
Protein: P05981 (aka HEPS_HUMAN)
CCDS: CCDS32993.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.