PRSS8 serine protease 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRSS8provided by HGNC
Official Full Name: serine protease 8provided by HGNC
Primary source: HGNC:HGNC:9491
See related: Ensembl:ENSG00000052344 MIM:600823
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CAP1; PROSTASIN
Summary: 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 enzyme is highly expressed in prostate epithelia and is one of several proteolytic enzymes found in seminal fluid. This protease exhibits trypsin-like substrate specificity, cleaving protein substrates at the carboxyl terminus of lysine or arginine residues. The encoded protease partially mediates proteolytic activation of the epithelial sodium channel, a regulator of sodium balance, and may also play a role in epithelial barrier formation. [provided by RefSeq, Feb 2016]
Expression: Broad expression in small intestine (RPKM 73.7), colon (RPKM 73.6) and 14 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 16p11.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	16	NC_000016.10 (31131433..31135762, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (31142754..31147151, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

limited role for HAI-2 in the inhibition of matriptase and prostasin is the result of its primarily intracellular localization in basal and spinous layer keratinocytes, which probably prevents the Kunitz inhibitor from interacting with active prostasin or matriptase
Title: Tissue distribution and subcellular localizations determine in vivo functional relationship among prostasin, matriptase, HAI-1, and HAI-2 in human skin.
PRSS8 was downregulated in glioma tissues.PRSS8 role in the glioma cell proliferation, migration, and invasion.
Title: Overexpression of Protease Serine 8 Inhibits Glioma Cell Proliferation, Migration, and Invasion via Suppressing the Akt/mTOR Signaling Pathway.
PRSS8 acts as a tumor suppressor in colorectal cancer
Title: Tumor suppressor PRSS8 targets Sphk1/S1P/Stat3/Akt signaling in colorectal cancer.
Data show that PRSS8 was reduced in esophageal squamous cell carcinomas (ESCC) tissues and the reduction of PRSS8 was associated with poor differentiation and shorter survival time.
Title: PRSS8 methylation and its significance in esophageal squamous cell carcinoma.
Studies in colonic T84 cell monolayers revealed that barrier disruption by the colitis-associated Th2-type cytokines, IL-4 and IL-13, down-regulates matriptase as well as prostasin through phosphorylation of the transcriptional regulator STAT6
Title: Inflammatory cytokines down-regulate the barrier-protective prostasin-matriptase proteolytic cascade early in experimental colitis.
PRSS8 may serve as a tumour suppressor in hepatocellular carcinoma progression.
Title: PRSS8 is Downregulated and Suppresses Tumour Growth and Metastases in Hepatocellular Carcinoma.
Overexpression of PRSS8 mRNA and high levels of prostasin in multiple subtypes of early stage ovarian tumors may provide clinical biomarkers for early detection of ovarian cancer.
Title: The serine protease prostasin (PRSS8) is a potential biomarker for early detection of ovarian cancer.
It is concluded that prostasin protein level change is less likely to be causally involved in placental dysfunction in preeclampsia.
Title: Prostasin and matriptase (ST14) in placenta from preeclamptic and healthy pregnant women.
In urinary exosomes, NCC and prostasin had a diurnal pattern parallel to ADH and aquaporin 2, confirming that, in healthy subjects, both prostasin and NCC relate to water balance.
Title: Circadian exosomal expression of renal thiazide-sensitive NaCl cotransporter (NCC) and prostasin in healthy individuals.
Polymorphism of the prostasin gene is closely associated with poor pregnancy outcomes of early-onset severe preeclampsia.
Title: [Association of prostasin gene rs12597511 polymorphism with outcomes of pregnancy with severe preeclampsia].

Submit: New GeneRIF Correction See all GeneRIFs (45)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

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Developmental Biology, organism-specific biosystem (from REACTOME)
Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
Keratinization, organism-specific biosystem (from REACTOME)
Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69053 (e-PCR)
- UniSTS:92934

D16S3336 (e-PCR)
- UniSTS:79004

Homology

Homologs of the PRSS8 gene: The PRSS8 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and frog.
Orthologs from Annotation Pipeline: 114 organisms have orthologs with human gene PRSS8
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
endopeptidase activity	TAS Traceable Author Statement more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
serine-type endopeptidase activity	IEA Inferred from Electronic Annotation more info
serine-type peptidase activity	TAS Traceable Author Statement more info	PubMed
sodium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Process	Evidence Code	Pubs
cornification	TAS Traceable Author Statement more info
positive regulation of sodium ion transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed
proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
anchored component of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
extracellular exosome	HDA more info	PubMed
extracellular region	TAS Traceable Author Statement more info	PubMed
extracellular space	HDA more info	PubMed
extrinsic component of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
integral component of membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: prostasin

Names: channel-activating protease 1; protease, serine 8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_002773.5 → NP_002764.1 prostasin preproprotein

See identical proteins and their annotated locations for NP_002764.1

Status: REVIEWED

Source sequence(s)

BC001462, L41351

Consensus CDS

CCDS45469.1

UniProtKB/Swiss-Prot

Q16651

Related

ENSP00000319730.6, ENST00000317508.10

Conserved Domains (2) summary

smart00020
Location:44 → 281

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:45 → 284

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...