PRSS41

Summary

PRSS41 (serine protease 41, HGNC:30715) is a protein-coding gene on chromosome 16p13.3, encoding Serine protease 41 (Q7RTY9).

Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be located in plasma membrane.

Source: NCBI Gene 360226 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 4 total
• MANE Select transcript: NM_001395501

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30715
Approved symbol	PRSS41
Name	serine protease 41
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Aliases	TESSP1
Ensembl gene	ENSG00000215148
Ensembl biotype	protein_coding
Entrez	360226

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000399677, ENST00000674256

RefSeq mRNA: 4 — MANE Select: NM_001395501 NM_001354586, NM_001395500, NM_001395501, NM_001395502

CCDS: CCDS92090, CCDS92091

Canonical transcript exons

ENST00000399677 — 6 exons

Exon	Start	End
ENSE00001609112	2799286	2799569
ENSE00001663059	2804389	2804546
ENSE00001722563	2798959	2799124
ENSE00003898279	2798636	2798662
ENSE00003898900	2804914	2805304
ENSE00003978216	2798470	2798548

Expression profiles

Bgee: expression breadth broad, 27 present calls, max score 91.62.

Top tissues by expression

120 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	91.62	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	54.13	gold quality
right testis	UBERON:0004534	53.05	gold quality
testis	UBERON:0000473	49.33	gold quality
left testis	UBERON:0004533	49.17	gold quality
saliva-secreting gland	UBERON:0001044	43.04	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	42.61	gold quality
minor salivary gland	UBERON:0001830	41.96	gold quality
blood	UBERON:0000178	41.57	gold quality
granulocyte	CL:0000094	39.99	gold quality
right lung	UBERON:0002167	39.08	gold quality
bone marrow cell	CL:0002092	38.45	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
sural nerve	UBERON:0015488	37.17	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
monocyte	CL:0000576	35.91	gold quality
leukocyte	CL:0000738	35.83	gold quality
mucosa of transverse colon	UBERON:0004991	35.66	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
rectum	UBERON:0001052	34.39	gold quality
bone marrow	UBERON:0002371	34.15	gold quality
vermiform appendix	UBERON:0001154	33.69	silver quality
placenta	UBERON:0001987	33.64	silver quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
duodenum	UBERON:0002114	33.19	silver quality
tonsil	UBERON:0002372	32.75	silver quality
prefrontal cortex	UBERON:0000451	30.14	gold quality
liver	UBERON:0002107	30.12	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.99

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Prss41	ENSMUSG00000024114
rattus_norvegicus	Prss41	ENSRNOG00000033690
drosophila_melanogaster	Sb	FBGN0003319
drosophila_melanogaster	CG17242	FBGN0250841

Paralogs (17): PRSS22 (ENSG00000005001), PRSS21 (ENSG00000007038), TMPRSS11E (ENSG00000087128), HPN (ENSG00000105707), TMPRSS13 (ENSG00000137747), ST14 (ENSG00000149418), TMPRSS11D (ENSG00000153802), TMPRSS15 (ENSG00000154646), TMPRSS3 (ENSG00000160183), TMPRSS5 (ENSG00000166682), TMPRSS7 (ENSG00000176040), TMPRSS9 (ENSG00000178297), TMPRSS2 (ENSG00000184012), TMPRSS11B (ENSG00000185873), TMPRSS6 (ENSG00000187045), TMPRSS11A (ENSG00000187054), TMPRSS11F (ENSG00000198092)

Protein

Protein identifiers

Serine protease 41 — Q7RTY9 (reviewed: Q7RTY9)

Alternative names: Testis serine protease 1

All UniProt accessions (2): A0A6I8PU99, A0A6Q8NYF4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cell membrane.

Post-translational modifications. N-glycosylated.

Similarity. Belongs to the peptidase S1 family.

RefSeq proteins (4): NP_001341515, NP_001382429, NP_001382430, NP_001382431 (=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 (16 total): disulfide bond 4, active site 3, propeptide 2, glycosylation site 2, signal peptide 1, sequence variant 1, chain 1, domain 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7RTY9-F1	84.18	0.59

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): 95 (charge relay system); 147 (charge relay system); 249 (charge relay system)

Post-translational modifications (1): 299

Disulfide bonds (4): 80–96, 181–255, 215–234, 245–273

Glycosylation sites (2): 284, 211

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-163125	Post-translational modification: synthesis of GPI-anchored proteins

MSigDB gene sets: 38 (showing top): GOBP_PROTEIN_MATURATION, GOCC_SIDE_OF_MEMBRANE, SANSOM_APC_TARGETS, GOBP_PROTEOLYSIS, SANSOM_APC_TARGETS_REQUIRE_MYC, GOMF_PEPTIDASE_ACTIVITY, GSE13762_CTRL_VS_125_VITAMIND_DAY12_DC_DN, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_C, GOBP_PROTEIN_PROCESSING, REACTOME_POST_TRANSLATIONAL_MODIFICATION_SYNTHESIS_OF_GPI_ANCHORED_PROTEINS, GSE10422_WT_VS_BAFF_TRANSGENIC_LN_BCELL_DN, GSE17721_CTRL_VS_CPG_1H_BMDC_DN, GSE17721_LPS_VS_CPG_1H_BMDC_DN, DESCARTES_MAIN_FETAL_TROPHOBLAST_GIANT_CELLS

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

GO Molecular Function (4): serine-type endopeptidase activity (GO:0004252), serine-type peptidase activity (GO:0008236), peptidase activity (GO:0008233), hydrolase activity (GO:0016787)

GO Cellular Component (4): extracellular region (GO:0005576), plasma membrane (GO:0005886), intracellular organelle (GO:0043229), side of membrane (GO:0098552)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
membrane	2
protein metabolic process	1
endopeptidase activity	1
serine-type peptidase activity	1
peptidase activity	1
serine hydrolase activity	1
hydrolase activity	1
catalytic activity, acting on a protein	1
catalytic activity	1
cell periphery	1
intracellular anatomical structure	1
organelle	1
leaflet of membrane bilayer	1

Protein interactions and networks

STRING

562 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRSS41	PRSS37	A4D1T9	403
PRSS41	SPINT1	O43278	402
PRSS41	PLD1	Q13393	401
PRSS41	FLYWCH1	Q4VC44	398
PRSS41	FLYWCH2	Q96CP2	360
PRSS41	SRRM2	Q9UQ35	355
PRSS41	MTPN	P58546	354
PRSS41	TMEM235	A6NFC5	351
PRSS41	BICDL2	A1A5D9	346
PRSS41	HCFC1R1	Q9NWW0	345
PRSS41	PURG	Q9UJV8	345
PRSS41	SPINT2	O43291	335
PRSS41	KCTD5	Q9NXV2	331
PRSS41	PAQR4	Q8N4S7	331
PRSS41	DEFB130A	P0DP74	321

IntAct

3 interactions, top by confidence:

A	B	Type	Score
AFG2A	ESYT2	psi-mi:“MI:0914”(association)	0.350
POLD3	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (2): PRSS41 (Affinity Capture-MS), TPSG1 (Negative Genetic)

ESM2 similar proteins: A1L453, A2VE36, A6NIE9, A8MTI9, E5RG02, O43240, O70169, P09582, P50343, P83748, Q14B25, Q14BX2, Q16651, Q3UKY7, Q3V0Q7, Q402U7, Q571E5, Q5FBW1, Q5K2P8, Q5K2P9, Q5M8S2, Q6AXZ6, Q6BEA2, Q6IE62, Q6IE63, Q6UWB4, Q76B45, Q76HL1, Q7RTY3, Q7RTY5, Q7RTY9, Q7Z5A4, Q8BJR6, Q8BLH5, Q8K4I7, Q8VIF2, Q920S2, Q99MS4, Q9BQR3, Q9D9M0

Diamond homologs: A0A126GUP6, A0A182C2Z2, A0A1S4H5M5, A8JUP7, B5U2W0, B7YZU2, F5HKX0, O15393, O35453, O60235, O60259, O97366, P00774, P03951, P03952, P05049, P05981, P08419, P09871, P10323, P13582, P14272, P21902, P23578, P25155, P26262, P28175, P29293, P31394, P33587, P35035, P35036, P35037, P35039, P35041, P35045, P35046, P35047, P40313, P48038

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	3
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

2089 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:2799547:G:C	W186C	0.997
16:2799547:G:T	W186C	0.997
16:2804508:T:A	C234S	0.997
16:2804509:G:C	C234S	0.997
16:2804451:T:A	C215S	0.996
16:2804452:G:C	C215S	0.996
16:2799032:G:C	W68C	0.995
16:2799032:G:T	W68C	0.995
16:2804958:G:C	W261C	0.994
16:2804958:G:T	W261C	0.994
16:2804509:G:A	C234Y	0.993
16:2799030:T:A	W68R	0.992
16:2799030:T:C	W68R	0.992
16:2799075:A:C	S83R	0.992
16:2799077:C:A	S83R	0.992
16:2799077:C:G	S83R	0.992
16:2799307:G:C	W106C	0.992
16:2799307:G:T	W106C	0.992
16:2799312:T:A	V108D	0.992
16:2804510:T:G	C234W	0.992
16:2804938:T:A	C255S	0.992
16:2804939:G:C	C255S	0.992
16:2799026:G:C	W66C	0.991
16:2799026:G:T	W66C	0.991
16:2804452:G:A	C215Y	0.991
16:2804508:T:C	C234R	0.991
16:2804977:A:C	S268R	0.990
16:2804979:C:A	S268R	0.990
16:2804979:C:G	S268R	0.990
16:2799532:C:G	C181W	0.989

dbSNP variants (sampled 300 via entrez): RS1000172535 (16:2802911 T>A,C), RS1000198089 (16:2802753 C>T), RS1000462849 (16:2798015 C>T), RS1000578365 (16:2798313 C>T), RS1001189476 (16:2802593 T>A,C), RS1001509950 (16:2797133 G>A,C), RS1001681215 (16:2797828 T>C), RS1001731051 (16:2803594 T>C), RS1001795837 (16:2797970 G>A,C), RS1001915639 (16:2798241 G>A), RS1001968148 (16:2804562 C>G,T), RS1001981595 (16:2796926 G>A), RS1002061629 (16:2804821 A>G), RS1002356456 (16:2802251 G>A,C), RS1002568609 (16:2800048 ACAT>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	affects methylation, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases abundance, increases expression	1
Ozone	affects methylation, increases abundance	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	increases methylation	1
Cadmium Chloride	increases abundance, increases expression	1

Clinical trials (associated diseases)

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