Gene Gene information from NCBI Gene database.
Entrez ID 3249
Gene name Hepsin
Gene symbol HPN
Synonyms (NCBI Gene)
TMPRSS1
Chromosome 19
Chromosome location 19q13.11
Summary 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
miRNA miRNA information provided by mirtarbase database.
19
miRTarBase ID miRNA Experiments Reference
MIRT004197 hsa-miR-197-3p Microarray 16822819
MIRT2451360 hsa-miR-3190 CLIP-seq
MIRT2451361 hsa-miR-4252 CLIP-seq
MIRT2451362 hsa-miR-4258 CLIP-seq
MIRT2451363 hsa-miR-4308 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IDA 16908524
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005515 Function Protein binding IPI 15614436, 19911255, 32296183
GO:0005789 Component Endoplasmic reticulum membrane IDA 17918732
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
142440 5155 ENSG00000105707
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P05981
Protein 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]
Protein function Serine protease that cleaves extracellular substrates, and contributes to the proteolytic processing of growth factors, such as HGF and MST1/HGFL (PubMed:15839837, PubMed:21875933). Plays a role in cell growth and maintenance of cell morphology
PDB 1O5E , 1O5F , 1P57 , 1Z8G , 3T2N , 5CE1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09272 Hepsin-SRCR 50 159 Hepsin, SRCR domain Domain
PF00089 Trypsin 163 400 Trypsin Domain
Tissue specificity TISSUE SPECIFICITY: Detected in liver and kidney. {ECO:0000269|PubMed:21875933}.
Sequence
Sequence length 417
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Viral carcinogenesis   MET Receptor Activation
Signaling by MST1
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIPIDOSES CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIPOIDOSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 18338334
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 18487557
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 11406537, 14665873
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 28886448
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 15583422, 26014348, 26165838, 29211761, 30227221, 30372442
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 25029565, 26014348 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 15839837 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 17346539, 9230195
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35164791 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 17309599 Inhibit
★☆☆☆☆
Found in Text Mining only