PRSS54 (serine protease 54) - Rat Genome Database

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Gene: PRSS54 (serine protease 54) Homo sapiens
Analyze
Symbol: PRSS54
Name: serine protease 54
RGD ID: 3438752
HGNC Page HGNC:26336
Description: Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region. Predicted to be active in extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cancer/testis antigen 67; CT67; FLJ25339; inactive serine protease 54; KLKBL4; plasma kallikrein-like protein 4; protease, serine 54; protease, serine, 54; testis tissue sperm-binding protein Li 40a
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
GRCh381658,279,997 - 58,295,025 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1658,279,997 - 58,295,047 (-)EnsemblGRCh38hg38GRCh38
GRCh371658,313,901 - 58,328,929 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361656,871,402 - 56,886,452 (-)NCBINCBI36Build 36hg18NCBI36
Celera1642,813,348 - 42,828,405 (-)NCBICelera
Cytogenetic Map16q21NCBI
HuRef1644,182,249 - 44,197,306 (-)NCBIHuRef
CHM1_11659,720,789 - 59,735,855 (-)NCBICHM1_1
T2T-CHM13v2.01664,075,287 - 64,090,313 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process
proteolysis  (IBA,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:12477932   PMID:17521433   PMID:18029348   PMID:21873635   PMID:35863763  


Genomics

Comparative Map Data
PRSS54
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381658,279,997 - 58,295,025 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1658,279,997 - 58,295,047 (-)EnsemblGRCh38hg38GRCh38
GRCh371658,313,901 - 58,328,929 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361656,871,402 - 56,886,452 (-)NCBINCBI36Build 36hg18NCBI36
Celera1642,813,348 - 42,828,405 (-)NCBICelera
Cytogenetic Map16q21NCBI
HuRef1644,182,249 - 44,197,306 (-)NCBIHuRef
CHM1_11659,720,789 - 59,735,855 (-)NCBICHM1_1
T2T-CHM13v2.01664,075,287 - 64,090,313 (-)NCBIT2T-CHM13v2.0
Prss54
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39896,285,694 - 96,302,965 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl896,285,697 - 96,302,968 (-)EnsemblGRCm39 Ensembl
GRCm38895,559,066 - 95,576,337 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl895,559,069 - 95,576,340 (-)EnsemblGRCm38mm10GRCm38
MGSCv37898,083,192 - 98,099,097 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36898,448,199 - 98,464,326 (-)NCBIMGSCv36mm8
MGSCv36895,358,238 - 95,373,984 (-)NCBIMGSCv36mm8
Celera899,870,836 - 99,886,555 (-)NCBICelera
Cytogenetic Map8D1NCBI
cM Map847.12NCBI
Prss54
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8199,486,059 - 9,502,900 (+)NCBIGRCr8
mRatBN7.2199,479,995 - 9,496,838 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl199,479,995 - 9,496,835 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx199,448,242 - 9,465,133 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01910,215,068 - 10,231,959 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0199,501,391 - 9,518,286 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0199,895,052 - 9,911,965 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl199,895,121 - 9,911,959 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0199,880,069 - 9,896,968 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4199,938,003 - 9,954,844 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1199,942,828 - 9,959,667 (+)NCBI
Celera199,373,558 - 9,390,626 (+)NCBICelera
Cytogenetic Map19p13NCBI
Prss54
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543315,775,880 - 15,788,524 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543315,775,492 - 15,788,128 (-)NCBIChiLan1.0ChiLan1.0
PRSS54
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21867,743,145 - 67,758,203 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11673,663,994 - 73,679,041 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01638,548,915 - 38,562,629 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11657,678,790 - 57,693,680 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1657,678,790 - 57,693,680 (-)Ensemblpanpan1.1panPan2
PRSS54
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1258,318,971 - 58,332,056 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl258,318,150 - 58,332,056 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha254,948,931 - 54,962,014 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0258,857,437 - 58,870,494 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl258,731,660 - 58,870,494 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1255,687,278 - 55,700,373 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0256,694,864 - 56,707,967 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0257,589,406 - 57,602,491 (+)NCBIUU_Cfam_GSD_1.0
Prss54
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934949,442,421 - 49,453,028 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647510,136,275 - 10,146,626 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647510,136,275 - 10,146,654 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRSS54
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl620,083,221 - 20,100,786 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1620,085,494 - 20,090,486 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2618,144,197 - 18,161,503 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PRSS54
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1544,214,986 - 44,249,005 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl544,215,216 - 44,229,224 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604731,949,429 - 31,962,389 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prss54
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474627,942,210 - 27,954,698 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474627,952,022 - 27,954,879 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRSS54
32 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2		 pathogenic
GRCh38/hg38 16q21(chr16:58082578-58578082)x3 copy number gain See cases [RCV000053864] Chr16:58082578..58578082 [GRCh38]
Chr16:58116482..58611986 [GRCh37]
Chr16:56673983..57169487 [NCBI36]
Chr16:16q21		 uncertain significance
GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1 copy number loss See cases [RCV000133738] Chr16:55457477..63841622 [GRCh38]
Chr16:55491389..63875526 [GRCh37]
Chr16:54048890..62433027 [NCBI36]
Chr16:16q12.2-21		 pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Breast ductal adenocarcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2		 likely pathogenic|uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
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-q21(chr16:34197492-64509054)x3 copy number gain See cases [RCV000511791] Chr16:34197492..64509054 [GRCh37]
Chr16:16p11.2-q21		 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
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
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
NM_001305173.2(PRSS54):c.16G>A (p.Gly6Ser) single nucleotide variant not specified [RCV004292787] Chr16:58293801 [GRCh38]
Chr16:58327705 [GRCh37]
Chr16:16q21		 uncertain significance
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2		 pathogenic
GRCh37/hg19 16q13-21(chr16:56950941-60203590)x1 copy number loss not provided [RCV000683823] Chr16:56950941..60203590 [GRCh37]
Chr16:16q13-21		 pathogenic|likely 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
NM_001305173.2(PRSS54):c.586C>G (p.Pro196Ala) single nucleotide variant not provided [RCV000881595] Chr16:58284658 [GRCh38]
Chr16:58318562 [GRCh37]
Chr16:16q21		 benign
NM_001305173.2(PRSS54):c.1051G>A (p.Val351Ile) single nucleotide variant not specified [RCV004299515] Chr16:58280361 [GRCh38]
Chr16:58314265 [GRCh37]
Chr16:16q21		 likely benign
GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3 copy number gain not provided [RCV000848548] Chr16:53455650..64006604 [GRCh37]
Chr16:16q12.2-21		 uncertain significance
NM_001305173.2(PRSS54):c.11C>T (p.Ala4Val) single nucleotide variant not specified [RCV004286011] Chr16:58293806 [GRCh38]
Chr16:58327710 [GRCh37]
Chr16:16q21		 uncertain significance
Single allele duplication not provided [RCV001542388] Chr16:46385317..61223349 [GRCh38]
Chr16:16q11.2-21		 pathogenic
GRCh37/hg19 16q13-21(chr16:57292407-59103985)x1 copy number loss not provided [RCV001259855] Chr16:57292407..59103985 [GRCh37]
Chr16:16q13-21		 uncertain significance
GRCh37/hg19 16q21(chr16:58143012-58686508)x3 copy number gain not provided [RCV001259857] Chr16:58143012..58686508 [GRCh37]
Chr16:16q21		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NC_000016.9:g.(?_56226148)_(58768132_?)del deletion Bardet-Biedl syndrome [RCV003119976]|Early infantile epileptic encephalopathy with suppression bursts [RCV003109791] Chr16:56226148..58768132 [GRCh37]
Chr16:16q12.2-21		 pathogenic
NC_000016.9:g.(?_57016057)_(58768132_?)del deletion not provided [RCV003122679] Chr16:57016057..58768132 [GRCh37]
Chr16:16q13-21		 pathogenic
GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3 copy number gain not provided [RCV002472562] Chr16:46503573..62203182 [GRCh37]
Chr16:16q11.2-21		 pathogenic
NM_001305173.2(PRSS54):c.644C>T (p.Thr215Ile) single nucleotide variant not specified [RCV004111933] Chr16:58284600 [GRCh38]
Chr16:58318504 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001305173.2(PRSS54):c.133G>A (p.Glu45Lys) single nucleotide variant not specified [RCV004207717] Chr16:58291089 [GRCh38]
Chr16:58324993 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001305173.2(PRSS54):c.56T>C (p.Val19Ala) single nucleotide variant not specified [RCV004151158] Chr16:58293761 [GRCh38]
Chr16:58327665 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001305173.2(PRSS54):c.1046C>T (p.Ala349Val) single nucleotide variant not specified [RCV004228813] Chr16:58280366 [GRCh38]
Chr16:58314270 [GRCh37]
Chr16:16q21		 likely benign
NM_001305173.2(PRSS54):c.277G>A (p.Val93Ile) single nucleotide variant not specified [RCV004189496] Chr16:58286182 [GRCh38]
Chr16:58320086 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001305173.2(PRSS54):c.539C>T (p.Thr180Met) single nucleotide variant not specified [RCV004240526] Chr16:58284705 [GRCh38]
Chr16:58318609 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001305173.2(PRSS54):c.953G>C (p.Arg318Thr) single nucleotide variant not specified [RCV004116503] Chr16:58280459 [GRCh38]
Chr16:58314363 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001305173.2(PRSS54):c.1078G>A (p.Gly360Ser) single nucleotide variant not specified [RCV004239485] Chr16:58280334 [GRCh38]
Chr16:58314238 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001305173.2(PRSS54):c.4G>T (p.Val2Leu) single nucleotide variant not specified [RCV004144470] Chr16:58293813 [GRCh38]
Chr16:58327717 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001305173.2(PRSS54):c.347T>C (p.Ile116Thr) single nucleotide variant not specified [RCV004120533] Chr16:58286112 [GRCh38]
Chr16:58320016 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001305173.2(PRSS54):c.661C>G (p.Pro221Ala) single nucleotide variant not specified [RCV004170852] Chr16:58280751 [GRCh38]
Chr16:58314655 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001305173.2(PRSS54):c.962C>T (p.Thr321Met) single nucleotide variant not specified [RCV004105416] Chr16:58280450 [GRCh38]
Chr16:58314354 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001305173.2(PRSS54):c.1130A>T (p.Gln377Leu) single nucleotide variant not specified [RCV004286894] Chr16:58280282 [GRCh38]
Chr16:58314186 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001305173.2(PRSS54):c.44G>A (p.Gly15Glu) single nucleotide variant not specified [RCV004312419] Chr16:58293773 [GRCh38]
Chr16:58327677 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001305173.2(PRSS54):c.250G>A (p.Ala84Thr) single nucleotide variant not specified [RCV004510737] Chr16:58290972 [GRCh38]
Chr16:58324876 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001305173.2(PRSS54):c.821C>G (p.Pro274Arg) single nucleotide variant not specified [RCV004510740] Chr16:58280591 [GRCh38]
Chr16:58314495 [GRCh37]
Chr16:16q21		 uncertain significance
GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1 copy number loss not specified [RCV003987196] Chr16:55329260..67180113 [GRCh37]
Chr16:16q12.2-22.1		 pathogenic
NM_001305173.2(PRSS54):c.208G>A (p.Gly70Ser) single nucleotide variant not specified [RCV004510735] Chr16:58291014 [GRCh38]
Chr16:58324918 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001305173.2(PRSS54):c.341C>T (p.Thr114Ile) single nucleotide variant not specified [RCV004510738] Chr16:58286118 [GRCh38]
Chr16:58320022 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001305173.2(PRSS54):c.908A>G (p.Asp303Gly) single nucleotide variant not specified [RCV004510741] Chr16:58280504 [GRCh38]
Chr16:58314408 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001305173.2(PRSS54):c.20T>C (p.Leu7Pro) single nucleotide variant not specified [RCV004510736] Chr16:58293797 [GRCh38]
Chr16:58327701 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001305173.2(PRSS54):c.742T>G (p.Cys248Gly) single nucleotide variant not specified [RCV004510739] Chr16:58280670 [GRCh38]
Chr16:58314574 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001305173.2(PRSS54):c.779A>T (p.Tyr260Phe) single nucleotide variant not specified [RCV004657552] Chr16:58280633 [GRCh38]
Chr16:58314537 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001305173.2(PRSS54):c.61C>T (p.Leu21Phe) single nucleotide variant not specified [RCV004657550] Chr16:58293756 [GRCh38]
Chr16:58327660 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001305173.2(PRSS54):c.462G>T (p.Met154Ile) single nucleotide variant not specified [RCV004657551] Chr16:58285997 [GRCh38]
Chr16:58319901 [GRCh37]
Chr16:16q21		 uncertain significance
NC_000016.9:g.(?_48799549)_(70756330_?)dup duplication Chromosome 16q12 duplication syndrome [RCV004595820] Chr16:48799549..70756330 [GRCh37]
Chr16:16q12.1-22.1		 likely pathogenic
NM_001305173.2(PRSS54):c.1149G>T (p.Leu383Phe) single nucleotide variant not specified [RCV004666704] Chr16:58280263 [GRCh38]
Chr16:58314167 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001305173.2(PRSS54):c.814G>C (p.Gly272Arg) single nucleotide variant not specified [RCV004657553] Chr16:58280598 [GRCh38]
Chr16:58314502 [GRCh37]
Chr16:16q21		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1000
Count of miRNA genes:480
Interacting mature miRNAs:524
Transcripts:ENST00000219301, ENST00000543437, ENST00000563336, ENST00000567164, ENST00000569079, ENST00000569727
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
406897458GWAS546434_Hsystemic lupus erythematosus QTL GWAS546434 (human)0.000004systemic lupus erythematosus165829374258293743Human
407369091GWAS1018067_Hacute myeloid leukemia QTL GWAS1018067 (human)4e-11acute myeloid leukemia165828114758281148Human
407369165GWAS1018141_Hacute myeloid leukemia QTL GWAS1018141 (human)1e-09acute myeloid leukemia165828114758281148Human

Markers in Region
RH98341  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371658,314,483 - 58,314,652UniSTSGRCh37
Build 361656,871,984 - 56,872,153RGDNCBI36
Celera1642,813,930 - 42,814,099RGD
Cytogenetic Map16q21UniSTS
HuRef1644,182,831 - 44,183,000UniSTS
GeneMap99-GB4 RH Map16369.06UniSTS
RH103710  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371658,313,946 - 58,314,124UniSTSGRCh37
Build 361656,871,447 - 56,871,625RGDNCBI36
Celera1642,813,393 - 42,813,571RGD
Cytogenetic Map16q21UniSTS
HuRef1644,182,294 - 44,182,472UniSTS
GeneMap99-GB4 RH Map16369.06UniSTS
RH69554  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371658,317,470 - 58,317,619UniSTSGRCh37
Build 361656,874,971 - 56,875,120RGDNCBI36
Celera1642,816,917 - 42,817,066RGD
Cytogenetic Map16q21UniSTS
HuRef1644,185,818 - 44,185,967UniSTS
GeneMap99-GB4 RH Map16368.96UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
291 880 990 566 3267 612 715 127 272 74 722 1885 1552 5 2881 244 976 516 55

Sequence


Ensembl Acc Id: ENST00000219301   ⟹   ENSP00000219301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1658,279,997 - 58,295,047 (-)Ensembl
Ensembl Acc Id: ENST00000543437   ⟹   ENSP00000437705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1658,280,003 - 58,294,976 (-)Ensembl
Ensembl Acc Id: ENST00000563336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1658,284,405 - 58,285,302 (-)Ensembl
Ensembl Acc Id: ENST00000567164   ⟹   ENSP00000455024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1658,279,997 - 58,295,025 (-)Ensembl
Ensembl Acc Id: ENST00000569079   ⟹   ENSP00000455921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1658,280,505 - 58,294,983 (-)Ensembl
Ensembl Acc Id: ENST00000569727   ⟹   ENSP00000455055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1658,284,685 - 58,295,047 (-)Ensembl
RefSeq Acc Id: NM_001080492   ⟹   NP_001073961
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381658,279,997 - 58,295,025 (-)NCBI
GRCh371658,313,901 - 58,328,951 (-)RGD
Build 361656,871,402 - 56,886,452 (-)NCBI Archive
Celera1642,813,348 - 42,828,405 (-)RGD
HuRef1644,182,249 - 44,197,306 (-)RGD
CHM1_11659,720,789 - 59,735,855 (-)NCBI
T2T-CHM13v2.01664,075,287 - 64,090,313 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001305173   ⟹   NP_001292102
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381658,279,997 - 58,295,025 (-)NCBI
CHM1_11659,720,789 - 59,735,855 (-)NCBI
T2T-CHM13v2.01664,075,287 - 64,090,313 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001305174   ⟹   NP_001292103
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381658,279,997 - 58,295,025 (-)NCBI
CHM1_11659,720,789 - 59,735,855 (-)NCBI
T2T-CHM13v2.01664,075,287 - 64,090,313 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047433779   ⟹   XP_047289735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381658,279,997 - 58,285,391 (-)NCBI
RefSeq Acc Id: NP_001073961   ⟸   NM_001080492
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96LN9 (UniProtKB/Swiss-Prot),   Q9NT77 (UniProtKB/Swiss-Prot),   Q6PEW0 (UniProtKB/Swiss-Prot),   A0A140VKC3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001292102   ⟸   NM_001305173
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96LN9 (UniProtKB/Swiss-Prot),   Q9NT77 (UniProtKB/Swiss-Prot),   Q6PEW0 (UniProtKB/Swiss-Prot),   A0A140VKC3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001292103   ⟸   NM_001305174
- Peptide Label: isoform 2
- UniProtKB: F5H6C6 (UniProtKB/TrEMBL),   B4DXX9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000455055   ⟸   ENST00000569727
Ensembl Acc Id: ENSP00000437705   ⟸   ENST00000543437
Ensembl Acc Id: ENSP00000219301   ⟸   ENST00000219301
Ensembl Acc Id: ENSP00000455024   ⟸   ENST00000567164
Ensembl Acc Id: ENSP00000455921   ⟸   ENST00000569079
RefSeq Acc Id: XP_047289735   ⟸   XM_047433779
- Peptide Label: isoform X1
Protein Domains
Peptidase S1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6PEW0-F1-model_v2 AlphaFold Q6PEW0 1-395 view protein structure

Promoters
RGD ID:7232387
Promoter ID:EPDNEW_H21938
Type:initiation region
Name:PRSS54_1
Description:protease, serine 54
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
GRCh381658,295,004 - 58,295,064EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26336 AgrOrtholog
COSMIC PRSS54 COSMIC
Ensembl Genes ENSG00000103023 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000219301 ENTREZGENE
  ENST00000219301.8 UniProtKB/Swiss-Prot
  ENST00000543437 ENTREZGENE
  ENST00000543437.5 UniProtKB/TrEMBL
  ENST00000567164 ENTREZGENE
  ENST00000567164.6 UniProtKB/Swiss-Prot
  ENST00000569079.1 UniProtKB/TrEMBL
  ENST00000569727.1 UniProtKB/TrEMBL
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000103023 GTEx
HGNC ID HGNC:26336 ENTREZGENE
Human Proteome Map PRSS54 Human Proteome Map
InterPro Peptidase_S1_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:221191 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 221191 ENTREZGENE
PANTHER CHYMOTRYPSIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  INACTIVE SERINE PROTEASE 54 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165450675 PharmGKB
PROSITE TRYPSIN_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Tryp_SPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VKC3 ENTREZGENE, UniProtKB/TrEMBL
  B4DXX9 ENTREZGENE, UniProtKB/TrEMBL
  F5H6C6 ENTREZGENE, UniProtKB/TrEMBL
  H3BNY0_HUMAN UniProtKB/TrEMBL
  H3BQS7_HUMAN UniProtKB/TrEMBL
  PRS54_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96LN9 ENTREZGENE
  Q9NT77 ENTREZGENE
UniProt Secondary Q96LN9 UniProtKB/Swiss-Prot
  Q9NT77 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-01-23 PRSS54  serine protease 54    protease, serine 54  Symbol and/or name change 5135510 APPROVED
2015-11-24 PRSS54  protease, serine 54    protease, serine, 54  Symbol and/or name change 5135510 APPROVED