Atlas of Genetics and Cytogenetics in Oncology and Haematology

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HPN (hepsin)

Identity

Alias_symbol (synonym)TMPRSS1
Other alias
HGNC (Hugo) HPN
LocusID (NCBI) 3249
Atlas_Id 40857
Location 19q13.11  [Link to chromosome band 19q13]
Location_base_pair Starts at 35040506 and ends at 35066573 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
HPN (19q13.12) / PPP2R5C (14q32.31)HPN 19q13.12 / PPP2R5C 14q32.31

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(14;19)(q32;q13) HPN/PPP2R5C

External links

Nomenclature
HGNC (Hugo)HPN   5155
Cards
Entrez_Gene (NCBI)HPN  3249  hepsin
AliasesTMPRSS1
GeneCards (Weizmann)HPN
Ensembl hg19 (Hinxton)ENSG00000105707 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000105707 [Gene_View]  ENSG00000105707 [Sequence]  chr19:35040506-35066573 [Contig_View]  HPN [Vega]
ICGC DataPortalENSG00000105707
TCGA cBioPortalHPN
AceView (NCBI)HPN
Genatlas (Paris)HPN
WikiGenes3249
SOURCE (Princeton)HPN
Genetics Home Reference (NIH)HPN
Genomic and cartography
GoldenPath hg38 (UCSC)HPN  -     chr19:35040506-35066573 +  19q13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HPN  -     19q13.11   [Description]    (hg19-Feb_2009)
GoldenPathHPN - 19q13.11 [CytoView hg19]  HPN - 19q13.11 [CytoView hg38]
ImmunoBaseENSG00000105707
Mapping of homologs : NCBIHPN [Mapview hg19]  HPN [Mapview hg38]
OMIM142440   
Gene and transcription
Genbank (Entrez)AK091988 AK095160 AK293622 AK315655 BC025716
RefSeq transcript (Entrez)NM_002151 NM_182983
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HPN
Cluster EST : UnigeneHs.182385 [ NCBI ]
CGAP (NCI)Hs.182385
Alternative Splicing GalleryENSG00000105707
Gene ExpressionHPN [ NCBI-GEO ]   HPN [ EBI - ARRAY_EXPRESS ]   HPN [ SEEK ]   HPN [ MEM ]
Gene Expression Viewer (FireBrowse)HPN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3249
GTEX Portal (Tissue expression)HPN
Human Protein AtlasENSG00000105707-HPN [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP05981   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP05981  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP05981
Splice isoforms : SwissVarP05981
PhosPhoSitePlusP05981
Domaine pattern : Prosite (Expaxy)TRYPSIN_DOM (PS50240)    TRYPSIN_HIS (PS00134)    TRYPSIN_SER (PS00135)   
Domains : Interpro (EBI)Hepsin-SRCR_dom    Peptidase_S1_PA    Peptidase_S1A    SRCR-like_dom    SRCR-like_dom_sf    Trypsin_dom    TRYPSIN_HIS    TRYPSIN_SER   
Domain families : Pfam (Sanger)Hepsin-SRCR (PF09272)    Trypsin (PF00089)   
Domain families : Pfam (NCBI)pfam09272    pfam00089   
Domain families : Smart (EMBL)SR (SM00202)  Tryp_SPc (SM00020)  
Domain structure : Prodom (Prabi Lyon)Hepsin-SRCR (PD021735)   
Conserved Domain (NCBI)HPN
DMDM Disease mutations3249
Blocks (Seattle)HPN
PDB (RSDB)1O5E    1O5F    1P57    1Z8G    3T2N    5CE1   
PDB Europe1O5E    1O5F    1P57    1Z8G    3T2N    5CE1   
PDB (PDBSum)1O5E    1O5F    1P57    1Z8G    3T2N    5CE1   
PDB (IMB)1O5E    1O5F    1P57    1Z8G    3T2N    5CE1   
Structural Biology KnowledgeBase1O5E    1O5F    1P57    1Z8G    3T2N    5CE1   
SCOP (Structural Classification of Proteins)1O5E    1O5F    1P57    1Z8G    3T2N    5CE1   
CATH (Classification of proteins structures)1O5E    1O5F    1P57    1Z8G    3T2N    5CE1   
SuperfamilyP05981
Human Protein Atlas [tissue]ENSG00000105707-HPN [tissue]
Peptide AtlasP05981
HPRD00801
IPIIPI00395826   IPI00922491   IPI00921475   
Protein Interaction databases
DIP (DOE-UCLA)P05981
IntAct (EBI)P05981
FunCoupENSG00000105707
BioGRIDHPN
STRING (EMBL)HPN
ZODIACHPN
Ontologies - Pathways
QuickGOP05981
Ontology : AmiGOserine-type endopeptidase activity  protein binding  endoplasmic reticulum membrane  plasma membrane  plasma membrane  integral component of plasma membrane  cell-cell junction  proteolysis  peptidase activity  serine-type peptidase activity  regulation of cell shape  regulation of cell shape  cell surface  positive regulation of gene expression  negative regulation of epithelial to mesenchymal transition  negative regulation of epithelial to mesenchymal transition  positive regulation of plasminogen activation  calcium-activated potassium channel activity  integral component of membrane  apical plasma membrane  positive regulation of cell growth  nuclear membrane  basement membrane disassembly  neuronal cell body  negative regulation of apoptotic process  positive regulation by host of viral transcription  hepatocyte growth factor receptor signaling pathway  negative regulation of epithelial cell proliferation  detection of mechanical stimulus involved in sensory perception of sound  serine-type exopeptidase activity  extracellular exosome  potassium ion transmembrane transport  cochlea morphogenesis  response to thyroid hormone  pilomotor reflex  positive regulation of hepatocyte proliferation  positive regulation of thyroid hormone generation  
Ontology : EGO-EBIserine-type endopeptidase activity  protein binding  endoplasmic reticulum membrane  plasma membrane  plasma membrane  integral component of plasma membrane  cell-cell junction  proteolysis  peptidase activity  serine-type peptidase activity  regulation of cell shape  regulation of cell shape  cell surface  positive regulation of gene expression  negative regulation of epithelial to mesenchymal transition  negative regulation of epithelial to mesenchymal transition  positive regulation of plasminogen activation  calcium-activated potassium channel activity  integral component of membrane  apical plasma membrane  positive regulation of cell growth  nuclear membrane  basement membrane disassembly  neuronal cell body  negative regulation of apoptotic process  positive regulation by host of viral transcription  hepatocyte growth factor receptor signaling pathway  negative regulation of epithelial cell proliferation  detection of mechanical stimulus involved in sensory perception of sound  serine-type exopeptidase activity  extracellular exosome  potassium ion transmembrane transport  cochlea morphogenesis  response to thyroid hormone  pilomotor reflex  positive regulation of hepatocyte proliferation  positive regulation of thyroid hormone generation  
Pathways : KEGGViral carcinogenesis   
NDEx NetworkHPN
Atlas of Cancer Signalling NetworkHPN
Wikipedia pathwaysHPN
Orthology - Evolution
OrthoDB3249
GeneTree (enSembl)ENSG00000105707
Phylogenetic Trees/Animal Genes : TreeFamHPN
HOGENOMP05981
Homologs : HomoloGeneHPN
Homology/Alignments : Family Browser (UCSC)HPN
Gene fusions - Rearrangements
Fusion : MitelmanHPN/PPP2R5C [19q13.12/14q32.31]  
Fusion PortalHPN 19q13.12 PPP2R5C 14q32.31 BRCA
Fusion : QuiverHPN
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHPN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HPN
dbVarHPN
ClinVarHPN
1000_GenomesHPN 
Exome Variant ServerHPN
ExAC (Exome Aggregation Consortium)ENSG00000105707
GNOMAD BrowserENSG00000105707
Varsome BrowserHPN
Genetic variants : HAPMAP3249
Genomic Variants (DGV)HPN [DGVbeta]
DECIPHERHPN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHPN 
Mutations
ICGC Data PortalHPN 
TCGA Data PortalHPN 
Broad Tumor PortalHPN
OASIS PortalHPN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHPN  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DHPN
Mutations and Diseases : HGMDHPN
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch HPN
DgiDB (Drug Gene Interaction Database)HPN
DoCM (Curated mutations)HPN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HPN (select a term)
intoGenHPN
Cancer3DHPN(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM142440   
Orphanet
DisGeNETHPN
MedgenHPN
Genetic Testing Registry HPN
NextProtP05981 [Medical]
TSGene3249
GENETestsHPN
Target ValidationHPN
Huge Navigator HPN [HugePedia]
snp3D : Map Gene to Disease3249
BioCentury BCIQHPN
ClinGenHPN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3249
Chemical/Pharm GKB GenePA29425
Clinical trialHPN
Miscellaneous
canSAR (ICR)HPN (select the gene name)
DataMed IndexHPN
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHPN
EVEXHPN
GoPubMedHPN
iHOPHPN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 17:47:17 CET 2019
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