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PRSS8 (serine protease 8)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5652
Gene nameGene Name - the full gene name approved by the HGNC.
Serine protease 8
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PRSS8
SynonymsGene synonyms aliases
CAP1, PROSTASIN
ChromosomeChromosome number
16
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p11.2
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the peptidase S1 or chymotrypsin family of serine proteases. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate via a disulfide bond to form the heterodimeric enzyme. This
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018875 hsa-miR-335-5p Microarray 18185580
MIRT1268620 hsa-miR-1224-3p CLIP-seq
MIRT1268621 hsa-miR-1252 CLIP-seq
MIRT1268622 hsa-miR-1260 CLIP-seq
MIRT1268623 hsa-miR-1260b CLIP-seq
Transcription factors
Transcription factor Regulation Reference
SREBF2 Unknown 16806080
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005515 Function Protein binding IPI 19911255
GO:0005576 Component Extracellular region TAS 10077646
GO:0005615 Component Extracellular space HDA 16502470
GO:0005886 Component Plasma membrane IDA 19911255
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q16651
Protein name Prostasin (EC 3.4.21.-) (Channel-activating protease 1) (CAP1) (Serine protease 8) [Cleaved into: Prostasin light chain; Prostasin heavy chain]
Protein function Possesses a trypsin-like cleavage specificity with a preference for poly-basic substrates. Stimulates epithelial sodium channel (ENaC) activity through activating cleavage of the gamma subunits (SCNN1G). {ECO:0000269|PubMed:15246975, ECO:0000269
PDB 3DFJ , 3DFL , 3E0N , 3E0P , 3E16 , 3E1X , 3FVF , 3GYL , 3GYM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00089 Trypsin
45 281
Trypsin
Domain
Sequence
Sequence length 343
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Formation of the cornified envelope
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anencephaly Iniencephaly, Exencephaly rs773607884 24722141
Neural tube defect Neural Tube Defects rs121918220, rs121434297, rs137853061, rs137853062, rs3127334, rs267607167, rs267607168, rs387907204, rs139365610, rs137955120, rs786201015, rs786201016, rs768434408, rs777661576, rs747846362, rs200137991, rs780014899, rs574132670, rs786204013, rs147257424, rs763539350, rs776483190, rs757259023, rs781461462, rs762921297, rs1114167354, rs557643577, rs147277149, rs765586205, rs377443637, rs1563593163, rs1303000329, rs1565818580, rs986604359, rs1293600145, rs114727354, rs146357218, rs768980918, rs140277700, rs139645527, rs750323424, rs368321176, rs1579619636, rs893229476, rs754990692, rs763079713, rs1593037878, rs747100389, rs372056091, rs1593083585, rs778121031, rs748778907, rs776969786, rs1189298981, rs375908206, rs1734858651, rs778738842 24722141
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 16541421
Unknown
Disease name Disease term dbSNP ID References
Acrania Acrania 24722141
Craniorachischisis Craniorachischisis 24722141
Dermatologic disorders Dermatologic disorders 22705055
Diastematomyelia Diastematomyelia 24722141

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