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.
|
|
Transcription factors
|
Transcription factor |
Regulation |
Reference |
SREBF2 |
Unknown |
16806080 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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.
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|
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 |
Embryopathy |
Embryopathies |
|
22705055 |
Fetal diseases |
Fetal Diseases |
|
22705055 |
Neurenteric cyst |
Neurenteric Cyst |
|
24722141 |
Primary tethered cord syndrome |
Tethered Cord Syndrome |
|
24722141 |
Prostatic neoplasms |
Prostatic Neoplasms |
|
16541421 |
Spinal cord myelodysplasia |
Spinal Cord Myelodysplasia |
|
24722141 |
|