PRSS8 (serine protease 8) - Rat Genome Database

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Gene: PRSS8 (serine protease 8) Homo sapiens
Analyze
Symbol: PRSS8
Name: serine protease 8
RGD ID: 730925
HGNC Page HGNC:9491
Description: Predicted to enable sodium channel regulator activity. Predicted to be involved in positive regulation of sodium ion transport and transepithelial transport. Predicted to act upstream of or within hair follicle development. Located in plasma membrane. Biomarker of breast carcinoma; ovarian cancer; and prostate carcinoma in situ.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CAP1; channel-activating protease 1; channel-activating serine protease 1; prostasin; protease, serine 8; protease, serine, 8 (prostasin)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381631,131,433 - 31,135,727 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1631,131,433 - 31,135,727 (-)EnsemblGRCh38hg38GRCh38
GRCh371631,142,754 - 31,147,048 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361631,050,255 - 31,054,652 (-)NCBINCBI36Build 36hg18NCBI36
Build 341631,050,256 - 31,054,652NCBI
Celera1629,150,870 - 29,155,267 (+)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1628,703,907 - 28,708,304 (-)NCBIHuRef
CHM1_11632,460,477 - 32,464,874 (-)NCBICHM1_1
T2T-CHM13v2.01631,518,914 - 31,523,208 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,4,7,8-Pentachlorodibenzofuran  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-hexachlorocyclohexane  (ISO)
ammonium chloride  (ISO)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP)
benzo[b]fluoranthene  (ISO)
beta-naphthoflavone  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyanocob(III)alamin  (ISO)
cyclosporin A  (EXP)
DDE  (EXP)
decabromodiphenyl ether  (ISO)
diethyl maleate  (ISO)
disulfiram  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
folpet  (ISO)
genistein  (EXP)
glycine betaine  (ISO)
inulin  (ISO)
isotretinoin  (EXP)
L-methionine  (ISO)
lead diacetate  (EXP)
mercury dibromide  (EXP)
Muraglitazar  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
panobinostat  (EXP)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
propiconazole  (ISO)
resveratrol  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenite  (EXP)
sodium dodecyl sulfate  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trichostatin A  (EXP)
Triptolide  (ISO)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Prostasin serine protease inhibits breast cancer invasiveness and is transcriptionally regulated by promoter DNA methylation. Chen LM and Chai KX, Int J Cancer. 2002 Jan 20;97(3):323-9.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Blood-borne RT-PCR assay for prostasin- specific transcripts to identify circulating prostate cells in cancer patients. Laribi A, etal., Eur Urol. 2001 Jan;39(1):65-71.
4. Prostasin, a potential serum marker for ovarian cancer: identification through microarray technology. Mok SC, etal., J Natl Cancer Inst. 2001 Oct 3;93(19):1458-64.
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. The mouse frizzy (fr) and rat 'hairless' (frCR) mutations are natural variants of protease serine S1 family member 8 (Prss8). Spacek DV, etal., Exp Dermatol. 2010 Jun;19(6):527-32. doi: 10.1111/j.1600-0625.2009.01054.x. Epub 2010 Feb 25.
7. Down-regulated expression of prostasin in high-grade or hormone-refractory human prostate cancers. Takahashi S, etal., Prostate. 2003 Feb 15;54(3):187-93.
Additional References at PubMed
PMID:7768952   PMID:8034638   PMID:8838796   PMID:10077646   PMID:11274175   PMID:11756432   PMID:12477932   PMID:12626364   PMID:15231748   PMID:15246975   PMID:15474520   PMID:15489334  
PMID:16061697   PMID:16103126   PMID:16344560   PMID:16502470   PMID:16541421   PMID:17145811   PMID:17532063   PMID:17940283   PMID:18310226   PMID:18407958   PMID:18583984   PMID:18922802  
PMID:19056867   PMID:19127211   PMID:19199708   PMID:19262497   PMID:19388054   PMID:19555470   PMID:19606239   PMID:19847458   PMID:19849847   PMID:19911255   PMID:20078940   PMID:20089521  
PMID:20204133   PMID:20696767   PMID:21148558   PMID:21678412   PMID:21873635   PMID:21933610   PMID:22582115   PMID:23344129   PMID:23376485   PMID:23443662   PMID:23533145   PMID:23673661  
PMID:23707658   PMID:24434518   PMID:24890150   PMID:25188517   PMID:25931204   PMID:26252104   PMID:26317012   PMID:26867056   PMID:27036110   PMID:27050145   PMID:27081034   PMID:27915333  
PMID:27983922   PMID:28319085   PMID:28490634   PMID:29438412   PMID:29509190   PMID:30097533   PMID:30115975   PMID:31527615   PMID:31916038   PMID:33094801   PMID:33961781   PMID:34240739  
PMID:34361079   PMID:34823420   PMID:36715754   PMID:38271183   PMID:38462165  


Genomics

Comparative Map Data
PRSS8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381631,131,433 - 31,135,727 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1631,131,433 - 31,135,727 (-)EnsemblGRCh38hg38GRCh38
GRCh371631,142,754 - 31,147,048 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361631,050,255 - 31,054,652 (-)NCBINCBI36Build 36hg18NCBI36
Build 341631,050,256 - 31,054,652NCBI
Celera1629,150,870 - 29,155,267 (+)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1628,703,907 - 28,708,304 (-)NCBIHuRef
CHM1_11632,460,477 - 32,464,874 (-)NCBICHM1_1
T2T-CHM13v2.01631,518,914 - 31,523,208 (-)NCBIT2T-CHM13v2.0
Prss8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397127,524,889 - 127,529,266 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7127,524,888 - 127,529,276 (-)EnsemblGRCm39 Ensembl
GRCm387127,925,717 - 127,930,149 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7127,925,716 - 127,930,104 (-)EnsemblGRCm38mm10GRCm38
MGSCv377135,069,231 - 135,073,627 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367127,716,865 - 127,721,242 (-)NCBIMGSCv36mm8
Celera7127,760,906 - 127,765,302 (-)NCBICelera
Cytogenetic Map7F3NCBI
cM Map769.84NCBI
Prss8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81191,966,701 - 191,971,271 (-)NCBIGRCr8
mRatBN7.21182,536,229 - 182,540,745 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1182,536,229 - 182,540,815 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1190,886,770 - 190,891,286 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01198,072,862 - 198,077,378 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01190,743,263 - 190,747,782 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01199,372,519 - 199,377,035 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1199,372,519 - 199,377,035 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01206,395,299 - 206,399,815 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41187,210,556 - 187,215,072 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11187,360,436 - 187,364,953 (-)NCBI
Celera1180,187,038 - 180,191,554 (-)NCBICelera
Cytogenetic Map1q37NCBI
Prss8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554937,971,609 - 7,976,666 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554937,970,929 - 7,976,885 (-)NCBIChiLan1.0ChiLan1.0
PRSS8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21834,337,449 - 34,341,801 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11639,138,848 - 39,143,190 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01623,833,127 - 23,837,466 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11631,500,225 - 31,504,555 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1631,500,225 - 31,504,623 (-)Ensemblpanpan1.1panPan2
PRSS8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1617,110,251 - 17,114,564 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl617,110,300 - 17,114,816 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha618,685,630 - 18,689,940 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0617,241,173 - 17,245,485 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl617,241,217 - 17,244,733 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1617,041,381 - 17,045,690 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0616,960,412 - 16,964,722 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0617,272,597 - 17,276,908 (+)NCBIUU_Cfam_GSD_1.0
Prss8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344125,389,779 - 125,393,813 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650113,485,310 - 13,491,905 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650113,487,863 - 13,491,837 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRSS8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl317,357,802 - 17,362,220 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1317,357,793 - 17,362,223 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2317,510,112 - 17,514,539 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PRSS8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1527,820,898 - 27,827,873 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl527,817,830 - 27,824,926 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660681,641,573 - 1,646,053 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prss8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478214,169,866 - 14,173,676 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478214,169,204 - 14,177,137 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRSS8
15 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3 copy number gain See cases [RCV000133811] Chr16:30691912..36160463 [GRCh38]
Chr16:30703233..35147508 [GRCh37]
Chr16:30610734..35005009 [NCBI36]
Chr16:16p11.2-11.1
pathogenic
GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3 copy number gain See cases [RCV000135339] Chr16:29909613..31438697 [GRCh38]
Chr16:29920934..31450018 [GRCh37]
Chr16:29828435..31357519 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3 copy number gain See cases [RCV000140341] Chr16:27311746..31193406 [GRCh38]
Chr16:27323067..31204727 [GRCh37]
Chr16:27230568..31112228 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:31123271-31153163)x4 copy number gain Breast ductal adenocarcinoma [RCV000207157] Chr16:31123271..31153163 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
NM_002773.5(PRSS8):c.367C>A (p.His123Asn) single nucleotide variant not specified [RCV004319778] Chr16:31132853 [GRCh38]
Chr16:31144174 [GRCh37]
Chr16:16p11.2
uncertain significance
Single allele deletion Branched-chain keto acid dehydrogenase kinase deficiency [RCV000735205] Chr16:30554158..31536880 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:30943854-31171177)x1 copy number loss See cases [RCV000446201] Chr16:30943854..31171177 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p11.2(chr16:30830287-31827011)x4 copy number gain See cases [RCV000447708] Chr16:30830287..31827011 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1 copy number loss See cases [RCV000448084] Chr16:28826162..29043901 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 16p11.2(chr16:30952806-31177641)x1 copy number loss See cases [RCV000511906] Chr16:30952806..31177641 [GRCh37]
Chr16:16p11.2
likely pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p11.2(chr16:30738551-34194635)x3 copy number gain not provided [RCV000739123] Chr16:30738551..34194635 [GRCh37]
Chr16:16p11.2
benign
NM_002773.5(PRSS8):c.23G>A (p.Gly8Glu) single nucleotide variant not provided [RCV000950465]|not specified [RCV001731989] Chr16:31135476 [GRCh38]
Chr16:31146797 [GRCh37]
Chr16:16p11.2
benign
GRCh37/hg19 16p11.2(chr16:30851860-31156762)x1 copy number loss not provided [RCV000848082] Chr16:30851860..31156762 [GRCh37]
Chr16:16p11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3 copy number gain not provided [RCV001258619] Chr16:30350747..31905898 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:30943854-31171177) copy number loss not specified [RCV002052525] Chr16:30943854..31171177 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_002773.5(PRSS8):c.526G>A (p.Val176Met) single nucleotide variant not specified [RCV004113031] Chr16:31132694 [GRCh38]
Chr16:31144015 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_002773.5(PRSS8):c.925C>T (p.His309Tyr) single nucleotide variant not specified [RCV004083727] Chr16:31132116 [GRCh38]
Chr16:31143437 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_002773.5(PRSS8):c.478G>A (p.Ala160Thr) single nucleotide variant not specified [RCV004091609] Chr16:31132742 [GRCh38]
Chr16:31144063 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_002773.5(PRSS8):c.121C>A (p.Pro41Thr) single nucleotide variant not specified [RCV004313135] Chr16:31133371 [GRCh38]
Chr16:31144692 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_002773.5(PRSS8):c.622G>A (p.Asp208Asn) single nucleotide variant not specified [RCV004346610] Chr16:31132512 [GRCh38]
Chr16:31143833 [GRCh37]
Chr16:16p11.2
likely benign
NM_002773.5(PRSS8):c.267C>T (p.Ser89=) single nucleotide variant not specified [RCV004510785] Chr16:31132953 [GRCh38]
Chr16:31144274 [GRCh37]
Chr16:16p11.2
likely benign
NM_002773.5(PRSS8):c.109T>C (p.Cys37Arg) single nucleotide variant not specified [RCV004510784] Chr16:31133383 [GRCh38]
Chr16:31144704 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_002773.5(PRSS8):c.914T>G (p.Leu305Arg) single nucleotide variant not specified [RCV004510791] Chr16:31132127 [GRCh38]
Chr16:31143448 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_002773.5(PRSS8):c.284C>T (p.Ala95Val) single nucleotide variant not specified [RCV004510786] Chr16:31132936 [GRCh38]
Chr16:31144257 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_002773.5(PRSS8):c.86G>A (p.Gly29Glu) single nucleotide variant not specified [RCV004510789] Chr16:31135171 [GRCh38]
Chr16:31146492 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_002773.5(PRSS8):c.872G>A (p.Arg291His) single nucleotide variant not specified [RCV004510790] Chr16:31132169 [GRCh38]
Chr16:31143490 [GRCh37]
Chr16:16p11.2
likely benign
NM_002773.5(PRSS8):c.862C>T (p.Leu288Phe) single nucleotide variant not specified [RCV004510788] Chr16:31132179 [GRCh38]
Chr16:31143500 [GRCh37]
Chr16:16p11.2
uncertain significance
NC_000016.9:g.(?_28889993)_(31202759_?)del deletion Dilated Cardiomyopathy, Dominant [RCV004582801] Chr16:28889993..31202759 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_002773.5(PRSS8):c.950C>G (p.Ala317Gly) single nucleotide variant not specified [RCV004657569] Chr16:31132091 [GRCh38]
Chr16:31143412 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_002773.5(PRSS8):c.16G>T (p.Val6Phe) single nucleotide variant not specified [RCV004657570] Chr16:31135483 [GRCh38]
Chr16:31146804 [GRCh37]
Chr16:16p11.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1850
Count of miRNA genes:830
Interacting mature miRNAs:1013
Transcripts:ENST00000317508, ENST00000564025, ENST00000567531, ENST00000567797, ENST00000567833, ENST00000568261
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407306677GWAS955653_Hfat body mass QTL GWAS955653 (human)2e-26body fat mass (VT:0010482)total body fat mass (CMO:0000305)163113389831133899Human

Markers in Region
D16S3336  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371631,142,777 - 31,142,930UniSTSGRCh37
Build 361631,050,278 - 31,050,431RGDNCBI36
Celera1629,155,091 - 29,155,244RGD
Cytogenetic Map16p11.2UniSTS
HuRef1628,703,930 - 28,704,083UniSTS
RH69053  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371631,143,002 - 31,143,162UniSTSGRCh37
Build 361631,050,503 - 31,050,663RGDNCBI36
Celera1629,154,859 - 29,155,019RGD
Cytogenetic Map16p11.2UniSTS
HuRef1628,704,155 - 28,704,315UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1173 2400 2679 2118 4768 1694 2319 6 603 1523 444 2210 6667 5868 41 3565 1 850 1729 1605 174 1

Sequence


Ensembl Acc Id: ENST00000317508   ⟹   ENSP00000319730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,131,433 - 31,135,727 (-)Ensembl
Ensembl Acc Id: ENST00000564025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,133,200 - 31,135,727 (-)Ensembl
Ensembl Acc Id: ENST00000567531   ⟹   ENSP00000457673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,132,439 - 31,135,640 (-)Ensembl
Ensembl Acc Id: ENST00000567797   ⟹   ENSP00000458056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,132,879 - 31,135,727 (-)Ensembl
Ensembl Acc Id: ENST00000567833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,134,042 - 31,135,703 (-)Ensembl
Ensembl Acc Id: ENST00000568261   ⟹   ENSP00000457750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,131,894 - 31,135,727 (-)Ensembl
RefSeq Acc Id: NM_002773   ⟹   NP_002764
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,131,433 - 31,135,727 (-)NCBI
GRCh371631,142,754 - 31,147,151 (-)ENTREZGENE
Build 361631,050,255 - 31,054,652 (-)NCBI Archive
HuRef1628,703,907 - 28,708,304 (-)ENTREZGENE
CHM1_11632,460,477 - 32,464,806 (-)NCBI
T2T-CHM13v2.01631,518,914 - 31,523,208 (-)NCBI
Sequence:
RefSeq Acc Id: NP_002764   ⟸   NM_002773
- Peptide Label: preproprotein
- UniProtKB: B4DWP2 (UniProtKB/Swiss-Prot),   Q9UCA3 (UniProtKB/Swiss-Prot),   Q16651 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000319730   ⟸   ENST00000317508
Ensembl Acc Id: ENSP00000458056   ⟸   ENST00000567797
Ensembl Acc Id: ENSP00000457673   ⟸   ENST00000567531
Ensembl Acc Id: ENSP00000457750   ⟸   ENST00000568261
Protein Domains
Peptidase S1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q16651-F1-model_v2 AlphaFold Q16651 1-343 view protein structure

Promoters
RGD ID:6793395
Promoter ID:HG_KWN:23605
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000317508,   NM_002773
Position:
Human AssemblyChrPosition (strand)Source
Build 361631,054,356 - 31,054,856 (-)MPROMDB
RGD ID:6851816
Promoter ID:EP73713
Type:initiation region
Name:HS_PRSS8
Description:Protease, serine, 8 (prostasin).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361631,054,549 - 31,054,609EPD
RGD ID:7232081
Promoter ID:EPDNEW_H21786
Type:initiation region
Name:PRSS8_1
Description:protease, serine 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,135,727 - 31,135,787EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9491 AgrOrtholog
COSMIC PRSS8 COSMIC
Ensembl Genes ENSG00000052344 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000317508 ENTREZGENE
  ENST00000317508.11 UniProtKB/Swiss-Prot
  ENST00000567531.5 UniProtKB/TrEMBL
  ENST00000567797.1 UniProtKB/TrEMBL
  ENST00000568261.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000052344 GTEx
HGNC ID HGNC:9491 ENTREZGENE
Human Proteome Map PRSS8 Human Proteome Map
InterPro Peptidase_S1_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1A UniProtKB/Swiss-Prot
  Trypsin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot
KEGG Report hsa:5652 UniProtKB/Swiss-Prot
NCBI Gene 5652 ENTREZGENE
OMIM 600823 OMIM
PANTHER PROSTASIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSMEMBRANE PROTEASE SERINE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33840 PharmGKB
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot
PROSITE TRYPSIN_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot
SMART Tryp_SPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DWP2 ENTREZGENE
  H3BUJ8_HUMAN UniProtKB/TrEMBL
  H3BVC8_HUMAN UniProtKB/TrEMBL
  PRSS8_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9UCA3 ENTREZGENE
UniProt Secondary B4DWP2 UniProtKB/Swiss-Prot
  Q9UCA3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-01-23 PRSS8  serine protease 8  PRSS8  protease, serine 8  Symbol and/or name change 5135510 APPROVED
2015-11-24 PRSS8  protease, serine 8  PRSS8  protease, serine, 8  Symbol and/or name change 5135510 APPROVED