PRSS48

Summary

PRSS48 (serine protease 48, HGNC:24635) is a protein-coding gene on chromosome 4q31.3, encoding Serine protease 48 (Q7RTY5).

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.

Source: NCBI Gene 345062 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 62 total
• MANE Select transcript: NM_183375

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24635
Approved symbol	PRSS48
Name	serine protease 48
Location	4q31.3
Locus type	gene with protein product
Status	Approved
Aliases	ESSPL
Ensembl gene	ENSG00000189099
Ensembl biotype	protein_coding
Entrez	345062

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000441586, ENST00000455694

RefSeq mRNA: 1 — MANE Select: NM_183375 NM_183375

CCDS: CCDS47145

Canonical transcript exons

ENST00000455694 — 5 exons

Exon	Start	End
ENSE00001253466	151279796	151279958
ENSE00001717913	151282148	151282413
ENSE00001791206	151283117	151283286
ENSE00003978195	151277161	151277224
ENSE00003978196	151291118	151291862

Expression profiles

Bgee: expression breadth broad, 87 present calls, max score 82.06.

Top tissues by expression

116 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.06	gold quality
sural nerve	UBERON:0015488	81.94	gold quality
corpus callosum	UBERON:0002336	75.59	gold quality
colonic epithelium	UBERON:0000397	68.56	gold quality
calcaneal tendon	UBERON:0003701	66.11	gold quality
apex of heart	UBERON:0002098	59.97	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	58.18	gold quality
liver	UBERON:0002107	49.95	gold quality
adrenal tissue	UBERON:0018303	48.76	silver quality
skeletal muscle tissue	UBERON:0001134	48.56	silver quality
mucosa of transverse colon	UBERON:0004991	47.17	gold quality
tonsil	UBERON:0002372	46.55	silver quality
rectum	UBERON:0001052	44.26	gold quality
right testis	UBERON:0004534	44.24	gold quality
testis	UBERON:0000473	42.86	gold quality
lower esophagus mucosa	UBERON:0035834	42.61	silver quality
muscle tissue	UBERON:0002385	42.22	silver quality
left testis	UBERON:0004533	41.89	gold quality
putamen	UBERON:0001874	41.36	gold quality
granulocyte	CL:0000094	41.17	gold quality
right coronary artery	UBERON:0001625	41.14	silver quality
hindlimb stylopod muscle	UBERON:0004252	41.11	gold quality
right uterine tube	UBERON:0001302	40.97	silver quality
ganglionic eminence	UBERON:0004023	39.53	silver quality
uterine cervix	UBERON:0000002	39.46	silver quality
urinary bladder	UBERON:0001255	38.77	silver quality
bone marrow cell	CL:0002092	38.39	gold quality
primary visual cortex	UBERON:0002436	38.20	gold quality
amygdala	UBERON:0001876	37.74	gold quality
temporal lobe	UBERON:0001871	37.64	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.00

Regulation

Is transcription factor: no

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	zgc:100868	ENSDARG00000004748
danio_rerio	zgc:123217	ENSDARG00000059026
danio_rerio	si:dkeyp-93a5.3	ENSDARG00000096975
danio_rerio	si:ch73-182e20.3	ENSDARG00000100953
danio_rerio	si:ch73-182e20.4	ENSDARG00000102727
mus_musculus	Prss48	ENSMUSG00000049013
rattus_norvegicus	Prss48	ENSRNOG00000024208

Paralogs (14): PRSS33 (ENSG00000103355), PLAT (ENSG00000104368), PLG (ENSG00000122194), PLGLB2 (ENSG00000125551), PRSS37 (ENSG00000165076), PRSS27 (ENSG00000172382), KLK15 (ENSG00000174562), PLGLB1 (ENSG00000183281), PRSS57 (ENSG00000185198), TMPRSS12 (ENSG00000186452), OVCH1 (ENSG00000187950), GZMM (ENSG00000197540), KLK9 (ENSG00000213022), PRSS50 (ENSG00000283706)

Protein

Protein identifiers

Serine protease 48 — Q7RTY5 (reviewed: Q7RTY5)

Alternative names: Epidermis-specific serine protease-like protein

All UniProt accessions (2): A0A140VJJ1, Q7RTY5

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Similarity. Belongs to the peptidase S1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q7RTY5-2	1	yes
Q7RTY5-3	2

RefSeq proteins (1): NP_899231* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001254	Trypsin_dom	Domain
IPR001314	Peptidase_S1A	Family
IPR009003	Peptidase_S1_PA	Homologous_superfamily
IPR018114	TRYPSIN_HIS	Active_site
IPR033116	TRYPSIN_SER	Active_site
IPR043504

Pfam: PF00089

UniProt features (15 total): disulfide bond 4, sequence variant 3, active site 3, signal peptide 1, chain 1, splice variant 1, domain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7RTY5-F1	81.10	0.49

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (3): 68 (charge relay system); 114 (charge relay system); 220 (charge relay system)

Disulfide bonds (4): 216–244, 53–69, 148–226, 181–205

Glycosylation sites (1): 263

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 12 (showing top): GOBP_PROTEOLYSIS, GOMF_PEPTIDASE_ACTIVITY, RAO_BOUND_BY_SALL4, GSE13522_WT_VS_IFNG_KO_SKIN_UP, NFKBIA_TARGET_GENES, chr4q31, DESCARTES_MAIN_FETAL_INTESTINAL_EPITHELIAL_CELLS, DESCARTES_FETAL_SPLEEN_VASCULAR_ENDOTHELIAL_CELLS, TBX3_TARGET_GENES, GOMF_SERINE_HYDROLASE_ACTIVITY, GOMF_ENDOPEPTIDASE_ACTIVITY, GSE25677_MPL_VS_MPL_AND_R848_STIM_BCELL_DN

GO Biological Process (1): proteolysis (GO:0006508)

GO Molecular Function (5): serine-type endopeptidase activity (GO:0004252), protein binding (GO:0005515), peptidase activity (GO:0008233), serine-type peptidase activity (GO:0008236), hydrolase activity (GO:0016787)

GO Cellular Component (2): obsolete extracellular space (GO:0005615), extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein metabolic process	1
endopeptidase activity	1
serine-type peptidase activity	1
binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
peptidase activity	1
serine hydrolase activity	1
catalytic activity	1
cellular anatomical structure	1

Protein interactions and networks

STRING

340 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRSS48	SH3D19	Q5HYK7	664
PRSS48	OR11G2	Q8NGC1	572
PRSS48	NOS1AP	O75052	494
PRSS48	ANKRD13B	Q86YJ7	472
PRSS48	CWC22	Q9HCG8	443
PRSS48	CRYBG2	Q8N1P7	440
PRSS48	WFDC3	Q8IUB2	421
PRSS48	SHROOM1	Q2M3G4	417
PRSS48	MARCHF10	Q8NA82	417
PRSS48	AP5B1	Q2VPB7	402
PRSS48	NAA35	Q5VZE5	393
PRSS48	CA10	Q9NS85	385
PRSS48	ZNF717	Q9BY31	377
PRSS48	RPS3A	P33443	376
PRSS48	SPICE1	Q8N0Z3	373
PRSS48	CCT6B	Q92526	373

IntAct

4 interactions, top by confidence:

A	B	Type	Score
PRSS48	TRIM68	psi-mi:“MI:0915”(physical association)	0.560
PRSS48	PDF	psi-mi:“MI:0915”(physical association)	0.400
PRSS48	UBXN2B	psi-mi:“MI:0914”(association)	0.350

BioGRID (6): TRIM68 (Affinity Capture-MS), TRIM68 (Affinity Capture-MS), A4GNT (Affinity Capture-MS), UBXN2B (Affinity Capture-MS), TRIM68 (Affinity Capture-MS), PDF (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GVH4, A1L453, A4D1T9, A6H6T1, A8MTI9, A8QL53, A8QL57, B5U6Y3, E5RG02, O35453, O70169, P00745, P04070, P08709, P0CG03, P0DJE9, P22891, Q14BX2, Q28278, Q28661, Q2F9P2, Q2F9P4, Q2TV78, Q3V0Q7, Q402U7, Q4R7Y7, Q5FBW1, Q5M8S2, Q6AXZ6, Q6AY28, Q6IE62, Q6IE63, Q6PEW0, Q6UWB4, Q76HL1, Q7M756, Q7M761, Q7RTY5, Q7RTY7, Q7Z5A4

Diamond homologs: A0A126GUP6, A0A182C2Z2, A0A1S4H5M5, A0A1S4H5S2, A0A6I8TBG6, A0A6J1W8N1, A2VE36, B7YZU2, F5HKX0, G3V801, O97366, P00745, P00760, P00761, P00762, P00763, P00766, P00767, P03952, P04070, P04813, P06867, P06868, P06871, P06872, P07338, P07477, P08426, P08709, P0CW18, P14272, P15944, P17538, P20231, P21845, P22457, P26262, P31394, P33587, P35030

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

62 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	50
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

773 predictions. Top by Δscore:

Variant	Effect	Δscore
4:151282399:T:G	donor_gain	1.0000
4:151283236:G:GT	donor_gain	1.0000
4:151283245:A:G	donor_gain	1.0000
4:151283275:G:GT	donor_gain	1.0000
4:151283276:A:T	donor_gain	1.0000
4:151279795:GTGT:G	acceptor_gain	0.9900
4:151282405:A:T	donor_gain	0.9900
4:151283112:CACA:C	acceptor_loss	0.9900
4:151283113:ACAG:A	acceptor_loss	0.9900
4:151283114:CA:C	acceptor_loss	0.9900
4:151283115:A:AG	acceptor_gain	0.9900
4:151283116:G:GG	acceptor_gain	0.9900
4:151283116:G:GT	acceptor_loss	0.9900
4:151283116:GATA:G	acceptor_gain	0.9900
4:151283236:G:T	donor_gain	0.9900
4:151283271:G:GT	donor_gain	0.9900
4:151283282:GCAAG:G	donor_loss	0.9900
4:151283283:CAAG:C	donor_loss	0.9900
4:151283285:AGG:A	donor_loss	0.9900
4:151283286:GG:G	donor_loss	0.9900
4:151283287:GTCA:G	donor_loss	0.9900
4:151283288:T:C	donor_loss	0.9900
4:151279795:GT:G	acceptor_gain	0.9800
4:151282352:GCA:G	donor_gain	0.9800
4:151282354:A:AG	donor_gain	0.9800
4:151282355:G:GG	donor_gain	0.9800
4:151283116:GAT:G	acceptor_gain	0.9800
4:151283291:G:A	donor_gain	0.9800
4:151277221:TCAGG:T	donor_loss	0.9700
4:151277222:CAGG:C	donor_loss	0.9700

AlphaMissense

2121 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:151279866:G:C	W41C	0.925
4:151279866:G:T	W41C	0.925
4:151282391:G:C	W153C	0.921
4:151282391:G:T	W153C	0.921
4:151291181:A:C	S239R	0.917
4:151291183:C:A	S239R	0.917
4:151291183:C:G	S239R	0.917
4:151291249:G:C	W261C	0.916
4:151291249:G:T	W261C	0.916
4:151279864:T:A	W41R	0.912
4:151279864:T:C	W41R	0.912
4:151283248:T:A	C205S	0.905
4:151283249:G:C	C205S	0.905
4:151291162:G:C	W232C	0.888
4:151291162:G:T	W232C	0.888
4:151282376:T:G	C148W	0.884
4:151279931:T:A	I63K	0.881
4:151279860:G:C	W39C	0.880
4:151279860:G:T	W39C	0.880
4:151291247:T:A	W261R	0.879
4:151291247:T:C	W261R	0.879
4:151282278:G:C	A116P	0.876
4:151283146:G:C	A171P	0.876
4:151279858:T:A	W39R	0.861
4:151279858:T:C	W39R	0.861
4:151291186:G:C	W240C	0.860
4:151291186:G:T	W240C	0.860
4:151283176:T:A	C181S	0.859
4:151283177:G:C	C181S	0.859
4:151282375:G:A	C148Y	0.855

dbSNP variants (sampled 300 via entrez): RS1000111475 (4:151280450 A>G), RS1000137564 (4:151280396 A>C), RS1000215090 (4:151288176 G>A), RS1000474135 (4:151278754 C>T), RS1000526165 (4:151278459 A>G), RS10009103 (4:151275848 A>C,T), RS1001146079 (4:151286201 A>C), RS10013073 (4:151277629 A>G), RS1001482355 (4:151287078 C>T), RS1001628778 (4:151279285 A>G,T), RS1001972103 (4:151286727 C>T), RS1002015638 (4:151292231 C>T), RS1002071776 (4:151280092 T>C), RS1002491896 (4:151285317 G>A), RS1002608009 (4:151285701 T>C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases expression	1
Rotenone	increases expression	1
Thiram	increases expression	1
Lactic Acid	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.