PRSS51

Summary

PRSS51 (serine protease 51, HGNC:37321) is a protein-coding gene on chromosome 8p23.1, encoding Serine protease-like protein 51 (A0A1B0GVH4).

Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in extracellular region.

Source: NCBI Gene 346702 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 92 total

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37321
Approved symbol	PRSS51
Name	serine protease 51
Location	8p23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000253649
Ensembl biotype	protein_coding
Entrez	346702

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000521149, ENST00000523024, ENST00000636217, ENST00000637190, ENST00000647010, ENST00000647727

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000521149 — 3 exons

Exon	Start	End
ENSE00002105613	10517894	10518015
ENSE00002118938	10498728	10498808
ENSE00002130915	10484198	10484246

Expression profiles

Bgee: expression breadth ubiquitous, 130 present calls, max score 96.50.

Top tissues by expression

134 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	96.50	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.27	gold quality
cerebellar hemisphere	UBERON:0002245	94.11	gold quality
cerebellar cortex	UBERON:0002129	94.10	gold quality
cerebellum	UBERON:0002037	93.96	gold quality
cortical plate	UBERON:0005343	81.41	gold quality
corpus callosum	UBERON:0002336	77.97	gold quality
primary visual cortex	UBERON:0002436	77.29	gold quality
right frontal lobe	UBERON:0002810	76.72	gold quality
superior frontal gyrus	UBERON:0002661	76.03	gold quality
Brodmann (1909) area 9	UBERON:0013540	73.49	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	71.54	gold quality
right lobe of liver	UBERON:0001114	71.35	gold quality
ganglionic eminence	UBERON:0004023	70.98	gold quality
right testis	UBERON:0004534	70.66	gold quality
anterior cingulate cortex	UBERON:0009835	70.50	gold quality
left testis	UBERON:0004533	70.21	gold quality
brain	UBERON:0000955	70.09	gold quality
testis	UBERON:0000473	69.57	gold quality
cerebral cortex	UBERON:0000956	69.45	gold quality
frontal cortex	UBERON:0001870	68.95	gold quality
liver	UBERON:0002107	68.18	gold quality
ventricular zone	UBERON:0003053	66.32	gold quality
Ammon’s horn	UBERON:0001954	64.85	gold quality
nucleus accumbens	UBERON:0001882	64.20	gold quality
amygdala	UBERON:0001876	63.91	gold quality
temporal lobe	UBERON:0001871	63.78	gold quality
caudate nucleus	UBERON:0001873	63.71	gold quality
prefrontal cortex	UBERON:0000451	62.91	gold quality
duodenum	UBERON:0002114	62.91	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.96

Regulation

Is transcription factor: no

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	f9a	ENSDARG00000010097
danio_rerio	habp2	ENSDARG00000057498
mus_musculus	Prss51	ENSMUSG00000052099
rattus_norvegicus	Prss51	ENSRNOG00000047637
drosophila_melanogaster	CG31266	FBGN0051266
drosophila_melanogaster	CG31267	FBGN0051267

Paralogs (16): F7 (ENSG00000057593), F11 (ENSG00000088926), F9 (ENSG00000101981), HGFAC (ENSG00000109758), F10 (ENSG00000126218), KLK10 (ENSG00000129451), F12 (ENSG00000131187), C1RL (ENSG00000139178), C1R (ENSG00000159403), KLKB1 (ENSG00000164344), C1S (ENSG00000182326), PRSS55 (ENSG00000184647), CFD (ENSG00000197766), CFI (ENSG00000205403), HP (ENSG00000257017), HPR (ENSG00000261701)

Protein

Protein identifiers

Serine protease-like protein 51 — A0A1B0GVH4 (reviewed: A0A1B0GVH4)

All UniProt accessions (5): A0A1B0GVH4, A0A1B0GVM9, A0A2R8YGP0, A0A3B3ISV0, A0AA34QVK3

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Similarity. Belongs to the peptidase S1 family.

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001254	Trypsin_dom	Domain
IPR009003	Peptidase_S1_PA	Homologous_superfamily
IPR018114	TRYPSIN_HIS	Active_site
IPR043504

Pfam: PF00089

UniProt features (7 total): glycosylation site 2, disulfide bond 2, signal peptide 1, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GVH4-F1	59.52	0.00

Functional residue map

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

Disulfide bonds (2): 64–80, 157–170

Glycosylation sites (2): 33, 92

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 13 (showing top): GOBP_PROTEIN_MATURATION, GOBP_PROTEOLYSIS, GOMF_PEPTIDASE_ACTIVITY, GOBP_PROTEIN_PROCESSING, PBXIP1_TARGET_GENES, LAKE_ADULT_KIDNEY_C5_PROXIMAL_TUBULE_EPITHELIAL_CELLS_STRESS_INFLAM, DESCARTES_MAIN_FETAL_INHIBITORY_INTERNEURONS, DESCARTES_FETAL_ADRENAL_ERYTHROBLASTS, DESCARTES_FETAL_MUSCLE_VASCULAR_ENDOTHELIAL_CELLS, GOMF_SERINE_HYDROLASE_ACTIVITY, GOMF_ENDOPEPTIDASE_ACTIVITY, chr8p23, GSE32901_TH17_EMRICHED_VS_TH17_NEG_CD4_TCELL_UP

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

GO Molecular Function (2): serine-type endopeptidase activity (GO:0004252), serine-type peptidase activity (GO:0008236)

GO Cellular Component (2): extracellular region (GO:0005576), plasma membrane (GO:0005886)

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
peptidase activity	1
serine hydrolase activity	1
cellular anatomical structure	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

334 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRSS51	RCBTB2	O95199	275
PRSS51	TSSK4	Q6SA08	253
PRSS51	SEPTIN4	O43236	209
PRSS51	SUN5	Q8TC36	203
PRSS51	SULT4A1	Q9BR01	192
PRSS51	BLOC1S6	Q9UL45	185
PRSS51	PDILT	Q8N807	179
PRSS51	CANX	P27824	178
PRSS51	CLGN	O14967	178
PRSS51	STARD13	Q9Y3M8	166
PRSS51	TRIM33	Q9UPN9	166
PRSS51	VARS1	P26640	166
PRSS51	CEP170	Q5SW79	164
PRSS51	CNTRL	Q7Z7A1	164
PRSS51	FARSB	Q9NSD9	162
PRSS51	PRSS37	A4D1T9	162

IntAct

0 interactions, top by confidence:

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: A0A1B0GVH4, A1L453, A2VE36, E5RG02, F2YMG0, O35205, O35453, O60235, O97370, P03952, P05981, P06868, P08001, P08709, P10323, P14272, P19236, P20231, P22457, P23578, P26262, P29293, P29786, P35035, P35036, P35038, P35039, P35040, P35041, P39675, P49275, P49864, P50342, P69526, P70375, P83748, P98139, Q05511, Q14B25, Q14BX2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	78
Likely benign	11
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

608 predictions. Top by Δscore:

Variant	Effect	Δscore
8:10532898:T:TA	acceptor_gain	1.0000
8:10532899:G:A	acceptor_gain	1.0000
8:10532904:A:AG	acceptor_gain	1.0000
8:10532905:G:GG	acceptor_gain	1.0000
8:10532905:GCT:G	acceptor_gain	1.0000
8:10525737:GTG:G	donor_gain	0.9900
8:10525740:G:GG	donor_gain	0.9900
8:10525740:G:T	donor_loss	0.9900
8:10525741:T:G	donor_loss	0.9900
8:10525742:GAGTA:G	donor_loss	0.9900
8:10529506:GAAT:G	acceptor_gain	0.9900
8:10531278:T:A	acceptor_gain	0.9900
8:10531519:TGGC:T	donor_gain	0.9900
8:10532900:GGCCA:G	acceptor_loss	0.9900
8:10532901:GCCAG:G	acceptor_loss	0.9900
8:10532902:CCA:C	acceptor_loss	0.9900
8:10532903:CA:C	acceptor_loss	0.9900
8:10532904:AGCT:A	acceptor_gain	0.9900
8:10532905:GC:G	acceptor_gain	0.9900
8:10532905:GCTG:G	acceptor_gain	0.9900
8:10532905:GCTGA:G	acceptor_gain	0.9900
8:10532907:T:A	acceptor_gain	0.9900
8:10525743:AGTAC:A	donor_loss	0.9800
8:10529487:A:AG	acceptor_gain	0.9800
8:10529505:A:AG	acceptor_gain	0.9800
8:10529506:G:GG	acceptor_gain	0.9800
8:10529506:GA:G	acceptor_gain	0.9800
8:10531279:G:A	acceptor_gain	0.9800
8:10531293:A:AG	acceptor_gain	0.9800
8:10531294:G:GG	acceptor_gain	0.9800

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000023091 (8:10514670 G>C), RS1000029409 (8:10509213 C>T), RS1000040182 (8:10491387 G>A,C,T), RS1000092120 (8:10491280 C>G,T), RS1000118535 (8:10518551 G>C), RS1000126206 (8:10496104 T>C), RS1000188299 (8:10548042 G>A,C), RS1000221209 (8:10495928 A>C), RS1000254746 (8:10534792 G>A), RS1000279811 (8:10503808 G>A,C), RS1000310781 (8:10503672 T>C), RS1000311002 (8:10548233 G>A,C), RS1000326236 (8:10520668 G>C,T), RS1000384862 (8:10488827 G>A,C), RS1000387509 (8:10517265 G>A)

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

1 associations (top):

Study	Trait	p-value
GCST012490_370	Femur bone mineral density x serum urate levels interaction	3.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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