• Gene id: 3249

Gene Summary

• Gene Symbol: HPN   Gene   UCSC   Ensembl
• Aliases: TMPRSS1
• Gene name: hepsin
• Alternate names: serine protease hepsin, testicular tissue protein Li 85, transmembrane protease serine 1,
• Gene location: 19q13.11 (35040505: 35066572)     Exons: 15     NC_000019.10
• Gene summary(Entrez): 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 progressi
• OMIM: 142440

Protein Summary

• Protein general information: P05981  
  • Name: Serine protease hepsin (EC 3.4.21.106) (Transmembrane protease serine 1) [Cleaved into: Serine protease hepsin non catalytic chain; Serine protease hepsin catalytic chain]
  • Length: 417  
  • Mass: 45011
  • Tissue specificity: Detected in liver and kidney. {ECO
• Sequence:

  MAQKEGGRTVPCCSRPKVAALTAGTLLLLTAIGAASWAIVAVLLRSDQEPLYPVQVSSADARLMVFDKTEGTWRL
  LCSSRSNARVAGLSCEEMGFLRALTHSELDVRTAGANGTSGFFCVDEGRLPHTQRLLEVISVCDCPRGRFLAAIC
  QDCGRRKLPVDRIVGGRDTSLGRWPWQVSLRYDGAHLCGGSLLSGDWVLTAAHCFPERNRVLSRWRVFAGAVAQA
  SPHGLQLGVQAVVYHGGYLPFRDPNSEENSNDIALVHLSSPLPLTEYIQPVCLPAAGQALVDGKICTVTGWGNTQ
  YYGQQAGVLQEARVPIISNDVCNGADFYGNQIKPKMFCAGYPEGGIDACQGDSGGPFVCEDSISRTPRWRLCGIV
  SWGTGCALAQKPGVYTKVSDFREWIFQAIKTHSEASGMVTQL

• Structural information:
  • Protein Domains: (54..15-)
    (/note="SRCR-)
    (163..40-)
    (/note="Peptidase-S1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00274"-)
  • Interpro: IPR038957  IPR015352  IPR009003  IPR001314  IPR017448   IPR036772  IPR001254  IPR018114  IPR033116  
  • Prosite: PS50240 PS00134 PS00135
  • CDD: cd00190
  • PDB: 1O5E 1O5F 1P57 1Z8G 3T2N 5CE1
  • PDBsum: 1O5E 1O5F 1P57 1Z8G 3T2N 5CE1
  • STRING: ENSP00000262626
• Other Databases: GeneCards:  HPN  Malacards:  HPN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010719	negative regulation of epithelial to mesenchymal transition	IBA	biological process
GO:0008360	regulation of cell shape	IBA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0070008	serine-type exopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0008236	serine-type peptidase activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0048012	hepatocyte growth factor receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0050680	negative regulation of epithelial cell proliferation	IDA	biological process
GO:0043923	positive regulation by host of viral transcription	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0034769	basement membrane disassembly	IDA	biological process
GO:0010756	positive regulation of plasminogen activation	IDA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0031965	nuclear membrane	IDA	colocalizes with
GO:0016021	integral component of membrane	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:2000347	positive regulation of hepatocyte proliferation	IDA	biological process
GO:0010719	negative regulation of epithelial to mesenchymal transition	IDA	biological process
GO:0008233	peptidase activity	IDA	molecular function
GO:0008233	peptidase activity	IDA	molecular function
GO:0009986	cell surface	IDA	cellular component
GO:0008236	serine-type peptidase activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:2000611	positive regulation of thyroid hormone generation	ISS	biological process
GO:0097066	response to thyroid hormone	ISS	biological process
GO:0097195	pilomotor reflex	ISS	biological process
GO:0090103	cochlea morphogenesis	ISS	biological process
GO:0043025	neuronal cell body	ISS	cellular component
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0008360	regulation of cell shape	IMP	biological process
GO:0005911	cell-cell junction	ISS	cellular component
GO:0071805	potassium ion transmembrane transport	ISS	biological process
GO:0030307	positive regulation of cell growth	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05203	Viral carcinogenesis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray