PRSS53 (serine protease 53) - Rat Genome Database

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Gene: PRSS53 (serine protease 53) Homo sapiens
Analyze
Symbol: PRSS53
Name: serine protease 53
RGD ID: 2860194
HGNC Page HGNC:34407
Description: Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: EDTP308; FLJ00289; POL3S; polyserase 3; polyserase-3; polyserine protease 3; protease, serine 53; protease, serine, 53; UNQ308
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
GRCh381631,083,437 - 31,088,943 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1631,083,437 - 31,089,628 (-)EnsemblGRCh38hg38GRCh38
GRCh371631,094,758 - 31,100,264 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361631,002,246 - 31,007,631 (-)NCBINCBI36Build 36hg18NCBI36
Celera1629,197,373 - 29,202,758 (+)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1628,656,444 - 28,661,829 (-)NCBIHuRef
CHM1_11632,412,046 - 32,417,431 (-)NCBICHM1_1
T2T-CHM13v2.01631,470,865 - 31,476,371 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
proteolysis  (IEA)

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12975309   PMID:16566820   PMID:20953189   PMID:21873635   PMID:22451204   PMID:32296183   PMID:33961781  


Genomics

Comparative Map Data
PRSS53
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381631,083,437 - 31,088,943 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1631,083,437 - 31,089,628 (-)EnsemblGRCh38hg38GRCh38
GRCh371631,094,758 - 31,100,264 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361631,002,246 - 31,007,631 (-)NCBINCBI36Build 36hg18NCBI36
Celera1629,197,373 - 29,202,758 (+)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1628,656,444 - 28,661,829 (-)NCBIHuRef
CHM1_11632,412,046 - 32,417,431 (-)NCBICHM1_1
T2T-CHM13v2.01631,470,865 - 31,476,371 (-)NCBIT2T-CHM13v2.0
Prss53
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397127,484,616 - 127,490,594 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7127,485,013 - 127,490,142 (-)EnsemblGRCm39 Ensembl
GRCm387127,885,444 - 127,892,965 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7127,885,841 - 127,890,970 (-)EnsemblGRCm38mm10GRCm38
MGSCv377135,028,958 - 135,034,484 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367127,676,592 - 127,682,118 (-)NCBIMGSCv36mm8
Celera7127,720,640 - 127,726,169 (-)NCBICelera
Cytogenetic Map7F3NCBI
cM Map769.81NCBI
Prss53
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81191,923,398 - 191,931,292 (-)NCBIGRCr8
mRatBN7.21182,494,944 - 182,501,607 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1182,494,955 - 182,500,115 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1190,846,034 - 190,850,698 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01198,032,128 - 198,036,792 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01190,702,532 - 190,707,202 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01199,331,108 - 199,337,129 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1199,331,787 - 199,336,451 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01206,353,540 - 206,359,553 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41187,169,747 - 187,174,411 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1180,146,294 - 180,150,958 (-)NCBICelera
Cytogenetic Map1q37NCBI
Prss53
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554937,921,408 - 7,925,708 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554937,921,335 - 7,927,233 (-)NCBIChiLan1.0ChiLan1.0
PRSS53
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21834,290,947 - 34,298,383 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11639,092,350 - 39,099,786 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01623,876,533 - 23,883,969 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11631,452,183 - 31,459,549 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1631,452,183 - 31,459,549 (-)Ensemblpanpan1.1panPan2
PRSS53
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1617,144,099 - 17,148,767 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl617,144,154 - 17,148,673 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha618,718,820 - 18,724,360 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0617,274,344 - 17,279,885 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl617,275,035 - 17,279,900 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1617,074,745 - 17,080,285 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0616,993,605 - 16,999,145 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0617,305,990 - 17,311,530 (+)NCBIUU_Cfam_GSD_1.0
Prss53
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344125,354,227 - 125,360,148 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650113,452,456 - 13,457,629 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650113,452,418 - 13,457,948 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRSS53
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl317,391,219 - 17,396,885 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1317,390,801 - 17,396,885 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2317,721,343 - 17,727,571 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PRSS53
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1527,771,033 - 27,778,544 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl527,771,384 - 27,776,516 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660681,690,087 - 1,696,864 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prss53
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478214,134,420 - 14,140,077 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478214,134,968 - 14,140,693 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRSS53
29 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(chr16:30391304-31122666)x3 copy number gain Breast ductal adenocarcinoma [RCV000207028] Chr16:30391304..31122666 [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_001039503.3(PRSS53):c.100G>A (p.Gly34Ser) single nucleotide variant Vitamin K-Dependent Clotting Factors [RCV000362776] Chr16:31087679 [GRCh38]
Chr16:31099000 [GRCh37]
Chr16:16p11.2
benign
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 16p11.2(chr16:30607048-31117069)x1 copy number loss See cases [RCV000511454] Chr16:30607048..31117069 [GRCh37]
Chr16:16p11.2
uncertain significance
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
NM_001039503.3(PRSS53):c.296G>A (p.Arg99His) single nucleotide variant not specified [RCV004311239] Chr16:31086845 [GRCh38]
Chr16:31098166 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.650A>G (p.Gln217Arg) single nucleotide variant not specified [RCV004286267] Chr16:31086350 [GRCh38]
Chr16:31097671 [GRCh37]
Chr16:16p11.2
uncertain significance
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
NM_001039503.3(PRSS53):c.1345G>A (p.Ala449Thr) single nucleotide variant not specified [RCV004318764] Chr16:31084638 [GRCh38]
Chr16:31095959 [GRCh37]
Chr16:16p11.2
likely benign
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
NM_001039503.3(PRSS53):c.976T>C (p.Cys326Arg) single nucleotide variant not specified [RCV004330777] Chr16:31085168 [GRCh38]
Chr16:31096489 [GRCh37]
Chr16:16p11.2
uncertain significance
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
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_001039503.3(PRSS53):c.559T>C (p.Cys187Arg) single nucleotide variant not specified [RCV004242541] Chr16:31086441 [GRCh38]
Chr16:31097762 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.400C>T (p.Leu134Phe) single nucleotide variant not specified [RCV004125257] Chr16:31086741 [GRCh38]
Chr16:31098062 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.843C>G (p.Ser281Arg) single nucleotide variant not specified [RCV004225394] Chr16:31086004 [GRCh38]
Chr16:31097325 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.1149G>T (p.Met383Ile) single nucleotide variant not specified [RCV004158757] Chr16:31084910 [GRCh38]
Chr16:31096231 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.1480G>A (p.Gly494Arg) single nucleotide variant not specified [RCV004104211] Chr16:31084281 [GRCh38]
Chr16:31095602 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.1439C>A (p.Ala480Glu) single nucleotide variant not specified [RCV004151248] Chr16:31084322 [GRCh38]
Chr16:31095643 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.518C>T (p.Thr173Ile) single nucleotide variant not specified [RCV004126696] Chr16:31086482 [GRCh38]
Chr16:31097803 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.1538C>T (p.Ala513Val) single nucleotide variant not specified [RCV004204494] Chr16:31084223 [GRCh38]
Chr16:31095544 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.1325G>C (p.Arg442Thr) single nucleotide variant not specified [RCV004164419] Chr16:31084658 [GRCh38]
Chr16:31095979 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.1262G>A (p.Arg421Gln) single nucleotide variant not specified [RCV004202063] Chr16:31084797 [GRCh38]
Chr16:31096118 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.673G>A (p.Gly225Arg) single nucleotide variant not specified [RCV004143932] Chr16:31086174 [GRCh38]
Chr16:31097495 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.1594G>A (p.Glu532Lys) single nucleotide variant not specified [RCV004072934] Chr16:31084167 [GRCh38]
Chr16:31095488 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.1495G>A (p.Gly499Arg) single nucleotide variant not specified [RCV004198826] Chr16:31084266 [GRCh38]
Chr16:31095587 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.1588T>C (p.Phe530Leu) single nucleotide variant not specified [RCV004148729] Chr16:31084173 [GRCh38]
Chr16:31095494 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.1463G>A (p.Gly488Asp) single nucleotide variant not specified [RCV004116013] Chr16:31084298 [GRCh38]
Chr16:31095619 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.694G>C (p.Glu232Gln) single nucleotide variant not specified [RCV004101234] Chr16:31086153 [GRCh38]
Chr16:31097474 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.550C>T (p.Arg184Cys) single nucleotide variant not specified [RCV004180480] Chr16:31086450 [GRCh38]
Chr16:31097771 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.533G>A (p.Arg178His) single nucleotide variant not specified [RCV004253399] Chr16:31086467 [GRCh38]
Chr16:31097788 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.1618C>T (p.Pro540Ser) single nucleotide variant not specified [RCV004274817] Chr16:31084143 [GRCh38]
Chr16:31095464 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.539G>A (p.Arg180His) single nucleotide variant not specified [RCV004334877] Chr16:31086461 [GRCh38]
Chr16:31097782 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.128C>T (p.Thr43Ile) single nucleotide variant not specified [RCV004359357] Chr16:31087651 [GRCh38]
Chr16:31098972 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.1079C>T (p.Pro360Leu) single nucleotide variant not specified [RCV004350395] Chr16:31084980 [GRCh38]
Chr16:31096301 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.1023C>T (p.His341=) single nucleotide variant not provided [RCV003426678] Chr16:31085121 [GRCh38]
Chr16:31096442 [GRCh37]
Chr16:16p11.2
likely benign
NM_001039503.3(PRSS53):c.190G>A (p.Gly64Ser) single nucleotide variant not specified [RCV004510728] Chr16:31087589 [GRCh38]
Chr16:31098910 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.702C>G (p.Asp234Glu) single nucleotide variant not specified [RCV004510733] Chr16:31086145 [GRCh38]
Chr16:31097466 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.109A>G (p.Lys37Glu) single nucleotide variant not specified [RCV004510725] Chr16:31087670 [GRCh38]
Chr16:31098991 [GRCh37]
Chr16:16p11.2
likely benign
NM_001039503.3(PRSS53):c.1135G>C (p.Gly379Arg) single nucleotide variant not specified [RCV004510726] Chr16:31084924 [GRCh38]
Chr16:31096245 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.1037G>A (p.Arg346His) single nucleotide variant not specified [RCV004510723] Chr16:31085022 [GRCh38]
Chr16:31096343 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.40G>A (p.Ala14Thr) single nucleotide variant not specified [RCV004510730] Chr16:31088770 [GRCh38]
Chr16:31100091 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.505G>A (p.Asp169Asn) single nucleotide variant not specified [RCV004510731] Chr16:31086636 [GRCh38]
Chr16:31097957 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.722G>C (p.Gly241Ala) single nucleotide variant not specified [RCV004510734] Chr16:31086125 [GRCh38]
Chr16:31097446 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.293A>C (p.Gln98Pro) single nucleotide variant not specified [RCV004510729] Chr16:31086848 [GRCh38]
Chr16:31098169 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.1363G>A (p.Gly455Ser) single nucleotide variant not specified [RCV004510727] Chr16:31084620 [GRCh38]
Chr16:31095941 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.651G>C (p.Gln217His) single nucleotide variant not specified [RCV004510732] Chr16:31086349 [GRCh38]
Chr16:31097670 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_001039503.3(PRSS53):c.1060G>A (p.Val354Ile) single nucleotide variant not specified [RCV004510724] Chr16:31084999 [GRCh38]
Chr16:31096320 [GRCh37]
Chr16:16p11.2
uncertain significance
NC_000016.9:g.(?_28889993)_(31202759_?)del deletion Dilated Cardiomyopathy, Dominant [RCV004582801] Chr16:28889993..31202759 [GRCh37] uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:875
Count of miRNA genes:556
Interacting mature miRNAs:641
Transcripts:ENST00000280606, ENST00000486499, ENST00000492427
Prediction methods:Microtar, 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.

Markers in Region
RH91770  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371631,094,859 - 31,095,027UniSTSGRCh37
Build 361631,002,360 - 31,002,528RGDNCBI36
Celera1629,202,476 - 29,202,644RGD
Cytogenetic Map16p11.2UniSTS
HuRef1628,656,558 - 28,656,726UniSTS
D16S2660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371631,094,787 - 31,094,935UniSTSGRCh37
Build 361631,002,288 - 31,002,436RGDNCBI36
Celera1629,202,568 - 29,202,716RGD
Cytogenetic Map16p11.2UniSTS
HuRef1628,656,486 - 28,656,634UniSTS
D16S2666  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371631,094,544 - 31,094,640UniSTSGRCh37
Build 361631,002,045 - 31,002,141RGDNCBI36
Celera1629,202,863 - 29,202,959RGD
Cytogenetic Map16p11.2UniSTS
HuRef1628,656,243 - 28,656,339UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 682 1130 512 154 113 154 1458 342 988 16 351 295 143 1119
Low 1703 1799 1130 422 1718 264 2855 1813 2638 271 1010 1233 170 1061 1652 3
Below cutoff 46 54 75 42 109 42 42 37 82 120 86 75 17 1

Sequence


RefSeq Acc Id: ENST00000280606   ⟹   ENSP00000280606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,083,437 - 31,088,943 (-)Ensembl
RefSeq Acc Id: ENST00000486499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,083,437 - 31,089,628 (-)Ensembl
RefSeq Acc Id: ENST00000492427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,086,015 - 31,088,728 (-)Ensembl
RefSeq Acc Id: NM_001039503   ⟹   NP_001034592
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,083,437 - 31,088,943 (-)NCBI
GRCh371631,094,745 - 31,100,289 (-)NCBI
Build 361631,002,246 - 31,007,631 (-)NCBI Archive
Celera1629,197,373 - 29,202,758 (+)RGD
HuRef1628,656,444 - 28,661,829 (-)RGD
CHM1_11632,412,046 - 32,417,431 (-)NCBI
T2T-CHM13v2.01631,470,865 - 31,476,371 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545816   ⟹   XP_011544118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,083,437 - 31,088,943 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545817   ⟹   XP_011544119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,083,437 - 31,088,943 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545818   ⟹   XP_011544120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,083,437 - 31,088,943 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545819   ⟹   XP_011544121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,083,437 - 31,088,943 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545820   ⟹   XP_011544122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,083,437 - 31,088,943 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054380210   ⟹   XP_054236185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,470,865 - 31,476,371 (-)NCBI
RefSeq Acc Id: XM_054380211   ⟹   XP_054236186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,470,865 - 31,476,371 (-)NCBI
RefSeq Acc Id: XM_054380212   ⟹   XP_054236187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,470,865 - 31,476,371 (-)NCBI
RefSeq Acc Id: XM_054380213   ⟹   XP_054236188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,470,865 - 31,476,371 (-)NCBI
RefSeq Acc Id: XM_054380214   ⟹   XP_054236189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,470,865 - 31,476,371 (-)NCBI
RefSeq Acc Id: NP_001034592   ⟸   NM_001039503
- Peptide Label: precursor
- UniProtKB: Q2L4Q9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011544121   ⟸   XM_011545819
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011544122   ⟸   XM_011545820
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011544118   ⟸   XM_011545816
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011544119   ⟸   XM_011545817
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011544120   ⟸   XM_011545818
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000280606   ⟸   ENST00000280606
RefSeq Acc Id: XP_054236188   ⟸   XM_054380213
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054236189   ⟸   XM_054380214
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054236185   ⟸   XM_054380210
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054236187   ⟸   XM_054380212
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054236186   ⟸   XM_054380211
- Peptide Label: isoform X2
Protein Domains
Peptidase S1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q2L4Q9-F1-model_v2 AlphaFold Q2L4Q9 1-553 view protein structure

Promoters
RGD ID:6793620
Promoter ID:HG_KWN:23599
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000300851,   ENST00000394971,   ENST00000394974,   OTTHUMT00000108582,   OTTHUMT00000108584,   OTTHUMT00000108589,   UC002EAR.1,   UC002EAU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361631,013,446 - 31,014,697 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:34407 AgrOrtholog
COSMIC PRSS53 COSMIC
Ensembl Genes ENSG00000151006 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000280606 ENTREZGENE
  ENST00000280606.7 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000151006 GTEx
HGNC ID HGNC:34407 ENTREZGENE
Human Proteome Map PRSS53 Human Proteome Map
InterPro Peptidase_S1_PA UniProtKB/Swiss-Prot
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot
  Peptidase_S1A UniProtKB/Swiss-Prot
  Trypsin_dom UniProtKB/Swiss-Prot
  TRYPSIN_HIS UniProtKB/Swiss-Prot
  TRYPSIN_SER UniProtKB/Swiss-Prot
KEGG Report hsa:339105 UniProtKB/Swiss-Prot
NCBI Gene 339105 ENTREZGENE
OMIM 610561 OMIM
PANTHER POLYSERASE-2 UniProtKB/Swiss-Prot
  TRANSMEMBRANE PROTEASE SERINE UniProtKB/Swiss-Prot
Pfam Trypsin UniProtKB/Swiss-Prot
PharmGKB PA165450635 PharmGKB
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot
PROSITE TRYPSIN_DOM UniProtKB/Swiss-Prot
  TRYPSIN_HIS UniProtKB/Swiss-Prot
  TRYPSIN_SER UniProtKB/Swiss-Prot
SMART Tryp_SPc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot
UniProt PRS53_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-01-23 PRSS53  serine protease 53    protease, serine 53  Symbol and/or name change 5135510 APPROVED
2015-11-24 PRSS53  protease, serine 53    protease, serine, 53  Symbol and/or name change 5135510 APPROVED