PRSS38

Summary

PRSS38 (serine protease 38, HGNC:29625) is a protein-coding gene on chromosome 1q42.13, encoding Serine protease 38 (A1L453).

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

Source: NCBI Gene 339501 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 81 total — 1 pathogenic
• MANE Select transcript: NM_183062

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29625
Approved symbol	PRSS38
Name	serine protease 38
Location	1q42.13
Locus type	gene with protein product
Status	Approved
Aliases	MPN2
Ensembl gene	ENSG00000185888
Ensembl biotype	protein_coding
Entrez	339501

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000366757

RefSeq mRNA: 2 — MANE Select: NM_183062 NM_001374657, NM_183062

CCDS: CCDS1563

Canonical transcript exons

ENST00000366757 — 5 exons

Exon	Start	End
ENSE00001307099	227845954	227846470
ENSE00001311352	227816090	227816252
ENSE00001318785	227817209	227817480
ENSE00001324461	227845470	227845612
ENSE00003978215	227815675	227815864

Expression profiles

Bgee: expression breadth tissue_specific, 10 present calls, max score 85.12.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
quadriceps femoris	UBERON:0001377	85.12	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.32	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.26	gold quality
cerebellar vermis	UBERON:0004720	81.32	gold quality
right testis	UBERON:0004534	64.52	gold quality
left testis	UBERON:0004533	63.23	gold quality
testis	UBERON:0000473	63.05	gold quality
thymus	UBERON:0002370	58.60	silver quality
colonic epithelium	UBERON:0000397	45.64	gold quality
lower esophagus mucosa	UBERON:0035834	38.40	gold quality
skeletal muscle tissue	UBERON:0001134	37.70	silver quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
granulocyte	CL:0000094	36.42	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
sural nerve	UBERON:0015488	35.93	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
muscle tissue	UBERON:0002385	34.28	silver quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	32.10	gold quality
urinary bladder	UBERON:0001255	31.87	gold quality
right uterine tube	UBERON:0001302	31.65	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
right hemisphere of cerebellum	UBERON:0014890	29.81	gold quality
prefrontal cortex	UBERON:0000451	29.60	gold quality
liver	UBERON:0002107	28.88	gold quality
blood	UBERON:0000178	28.87	gold quality
tonsil	UBERON:0002372	28.52	gold quality
duodenum	UBERON:0002114	28.14	gold quality
leukocyte	CL:0000738	27.84	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.80

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

10 targeting PRSS38, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-4762-5P	99.57	68.54	1424
HSA-MIR-6832-3P	99.52	70.44	1726
HSA-MIR-3944-5P	98.50	67.55	997
HSA-MIR-7156-3P	98.25	67.66	859
HSA-MIR-4708-5P	97.77	67.82	831
HSA-MIR-4288	97.11	67.23	1636
HSA-MIR-632	96.08	67.17	798
HSA-MIR-5587-3P	82.90	60.79	138

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ctrl	ENSDARG00000068680
danio_rerio	si:dkey-238d18.3	ENSDARG00000088893
danio_rerio	zgc:171592	ENSDARG00000101964
mus_musculus	Prss38	ENSMUSG00000049291
rattus_norvegicus	Prss38	ENSRNOG00000022548

Paralogs (1): CTRL (ENSG00000141086)

Protein

Protein identifiers

Serine protease 38 — A1L453 (reviewed: A1L453)

Alternative names: Marapsin-2

All UniProt accessions (1): A1L453

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Similarity. Belongs to the peptidase S1 family.

RefSeq proteins (2): NP_001361586, NP_898885* (*=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 (14 total): disulfide bond 4, active site 3, signal peptide 1, propeptide 1, sequence variant 1, sequence conflict 1, chain 1, domain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A1L453-F1	82.03	0.55

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): 100 (charge relay system); 150 (charge relay system); 245 (charge relay system)

Disulfide bonds (4): 214–230, 241–269, 85–101, 183–251

Glycosylation sites (1): 125

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 9 (showing top): GOBP_PROTEOLYSIS, GOMF_PEPTIDASE_ACTIVITY, NFE2L2.V2, GSE12507_PDC_CELL_LINE_VS_IMMATUE_T_CELL_LINE_UP, GOMF_SERINE_HYDROLASE_ACTIVITY, NOURUZI_NEPC_ASCL1_TARGETS, GOMF_ENDOPEPTIDASE_ACTIVITY, GSE25677_R848_VS_MPL_AND_R848_STIM_BCELL_UP, chr1q42

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

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

GO Cellular Component (1): 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
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

306 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRSS38	USB1	Q9BQ65	597
PRSS38	FAM227A	F5H4B4	527
PRSS38	PPIAL4C	A0A0B4J2A2	513
PRSS38	PPIAL4E	A0A075B759	506
PRSS38	PPIAL4G	P0DN37	478
PRSS38	PPIAL4A	Q9Y536	433
PRSS38	CFAP251	Q8TBY9	321
PRSS38	ZPBP	Q9BS86	318
PRSS38	TSEN2	Q8NCE0	300
PRSS38	ZC2HC1C	Q53FD0	286
PRSS38	FMR1	Q06787	278
PRSS38	ZP1	P60852	236
PRSS38	ZNF100	Q8IYN0	225
PRSS38	ITPRIPL2	Q3MIP1	220
PRSS38	C5orf34	Q96MH7	217

IntAct

2 interactions, top by confidence:

A	B	Type	Score
OTUB1		psi-mi:“MI:0914”(association)	0.350

BioGRID (1): PRSS38 (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: 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

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	65
Likely benign	5
Benign	9

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	Pathogenic

SpliceAI

905 predictions. Top by Δscore:

Variant	Effect	Δscore
1:227816249:ACAGG:A	donor_loss	1.0000
1:227816250:CAGGT:C	donor_loss	1.0000
1:227816253:GTAA:G	donor_loss	1.0000
1:227845464:CCACA:C	acceptor_loss	1.0000
1:227845465:CACA:C	acceptor_loss	1.0000
1:227845467:CA:C	acceptor_loss	1.0000
1:227845469:G:A	acceptor_loss	1.0000
1:227845469:GGT:G	acceptor_gain	1.0000
1:227845596:C:G	donor_gain	1.0000
1:227845600:GACC:G	donor_gain	1.0000
1:227815840:G:GT	donor_gain	0.9900
1:227815841:G:T	donor_gain	0.9900
1:227815859:GC:G	donor_gain	0.9900
1:227816253:G:GG	donor_gain	0.9900
1:227816254:T:G	donor_loss	0.9900
1:227817420:G:GT	donor_gain	0.9900
1:227845468:AGGT:A	acceptor_gain	0.9900
1:227845469:GGTG:G	acceptor_gain	0.9900
1:227845469:GGTGA:G	acceptor_gain	0.9900
1:227845595:GC:G	donor_gain	0.9900
1:227845604:GTGT:G	donor_gain	0.9900
1:227816250:CAG:C	donor_gain	0.9800
1:227845468:A:AG	acceptor_gain	0.9800
1:227845468:AG:A	acceptor_gain	0.9800
1:227845469:G:GG	acceptor_gain	0.9800
1:227845469:GG:G	acceptor_gain	0.9800
1:227845596:C:CG	donor_gain	0.9800
1:227845607:TGTG:T	donor_gain	0.9800
1:227815788:G:GA	donor_gain	0.9700
1:227816213:A:AG	donor_gain	0.9700

AlphaMissense

2095 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:227817461:G:C	W188C	0.994
1:227817461:G:T	W188C	0.994
1:227817351:G:C	A152P	0.992
1:227846088:G:C	W287C	0.991
1:227846088:G:T	W287C	0.991
1:227816160:G:C	W73C	0.988
1:227816160:G:T	W73C	0.988
1:227816203:T:C	S88P	0.988
1:227816158:T:A	W73R	0.987
1:227816158:T:C	W73R	0.987
1:227845574:T:A	C230S	0.986
1:227845575:G:C	C230S	0.986
1:227846017:A:C	S264R	0.986
1:227846019:C:A	S264R	0.986
1:227846019:C:G	S264R	0.986
1:227816167:A:C	S76R	0.984
1:227816169:C:A	S76R	0.984
1:227816169:C:G	S76R	0.984
1:227817352:C:A	A152D	0.984
1:227817355:T:C	L153P	0.983
1:227846086:T:A	W287R	0.983
1:227846086:T:C	W287R	0.983
1:227817459:T:A	W188R	0.982
1:227817459:T:C	W188R	0.982
1:227816154:G:C	W71C	0.980
1:227816154:G:T	W71C	0.980
1:227816228:T:C	L96P	0.979
1:227816244:C:G	C101W	0.979
1:227845973:T:C	L249P	0.979
1:227816207:T:A	I89N	0.978

dbSNP variants (sampled 300 via entrez): RS1000030476 (1:227821459 T>A,C), RS1000162537 (1:227813911 G>A), RS1000594977 (1:227825018 T>C,G), RS1000651610 (1:227845128 C>A), RS1000789939 (1:227838859 A>T), RS1000907669 (1:227815707 C>G,T), RS1000909959 (1:227837867 G>A,T), RS1000920139 (1:227821801 T>A), RS1000968329 (1:227843953 A>T), RS1001043634 (1:227831815 G>A), RS1001221728 (1:227833787 A>G), RS1001418784 (1:227831603 G>A), RS1001483260 (1:227834001 T>G), RS1001746268 (1:227816441 T>C), RS1001773753 (1:227846077 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

3 associations (top):

Study	Trait	p-value
GCST003542_210	Night sleep phenotypes	7.000000e-06
GCST010244_155	Triglyceride levels	2.000000e-11
GCST90020029_639	Waist circumference adjusted for body mass index	3.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol S	increases methylation	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression	1
Diazinon	decreases methylation	1
Endosulfan	increases expression	1
Silicon Dioxide	decreases expression	1
Valproic Acid	increases methylation	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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