PRSS27

Summary

PRSS27 (serine protease 27, HGNC:15475) is a protein-coding gene on chromosome 16p13.3, encoding Serine protease 27 (Q9BQR3).

This gene is located within a large protease gene cluster on chromosome 16. It belongs to the group-1 subfamily of serine proteases. The encoded protein is a secreted tryptic serine protease and is expressed mainly in the pancreas. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 83886 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 53 total
• Druggable target: yes
• MANE Select transcript: NM_031948

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15475
Approved symbol	PRSS27
Name	serine protease 27
Location	16p13.3
Locus type	gene with protein product
Status	Approved
Aliases	MPN, CAPH2
Ensembl gene	ENSG00000172382
Ensembl biotype	protein_coding
OMIM	608018
Entrez	83886

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 2 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay

ENST00000302641, ENST00000543965, ENST00000562249, ENST00000565903, ENST00000566492, ENST00000916578

RefSeq mRNA: 2 — MANE Select: NM_031948 NM_001318395, NM_031948

CCDS: CCDS10476

Canonical transcript exons

ENST00000302641 — 6 exons

Exon	Start	End
ENSE00001157342	2715718	2715880
ENSE00001157352	2716500	2716526
ENSE00001215977	2712422	2712814
ENSE00001215985	2720115	2720224
ENSE00003649965	2714065	2714336
ENSE00003688520	2713529	2713698

Expression profiles

Bgee: expression breadth ubiquitous, 168 present calls, max score 99.59.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.0161 / max 406.2121, expressed in 58 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
155940	1.0044	58
207706	0.0117	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	99.59	gold quality
esophagus mucosa	UBERON:0002469	97.70	gold quality
pharyngeal mucosa	UBERON:0000355	95.65	gold quality
esophagus squamous epithelium	UBERON:0006920	95.24	gold quality
oral cavity	UBERON:0000167	93.83	gold quality
vagina	UBERON:0000996	87.38	gold quality
buccal mucosa cell	CL:0002336	86.46	gold quality
gingiva	UBERON:0001828	85.76	gold quality
esophagus	UBERON:0001043	84.50	gold quality
gingival epithelium	UBERON:0001949	84.46	gold quality
mouth mucosa	UBERON:0003729	82.45	gold quality
minor salivary gland	UBERON:0001830	81.39	gold quality
amniotic fluid	UBERON:0000173	80.63	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.47	gold quality
ectocervix	UBERON:0012249	77.35	gold quality
right hemisphere of cerebellum	UBERON:0014890	77.19	gold quality
cerebellar hemisphere	UBERON:0002245	76.82	gold quality
cerebellar cortex	UBERON:0002129	76.68	gold quality
saliva-secreting gland	UBERON:0001044	76.55	gold quality
tonsil	UBERON:0002372	76.14	gold quality
ganglionic eminence	UBERON:0004023	74.41	gold quality
cerebellum	UBERON:0002037	74.26	gold quality
body of tongue	UBERON:0011876	73.92	gold quality
ventricular zone	UBERON:0003053	73.85	gold quality
cortical plate	UBERON:0005343	73.68	gold quality
penis	UBERON:0000989	71.35	gold quality
uterine cervix	UBERON:0000002	70.56	gold quality
putamen	UBERON:0001874	70.34	gold quality
skin of abdomen	UBERON:0001416	70.14	gold quality
skin of leg	UBERON:0001511	69.82	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.58
E-MTAB-5061	no	2.52

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

27 targeting PRSS27, 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-4283	100.00	66.42	2097
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-4489	99.50	65.56	785
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-887-5P	98.82	65.90	1347
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-6878-5P	98.49	67.91	2142
HSA-MIR-5589-5P	98.34	64.82	1148
HSA-MIR-30C-1-3P	97.80	66.36	1499
HSA-MIR-30C-2-3P	97.80	66.45	1499
HSA-MIR-6788-5P	97.80	66.41	1532

Literature-anchored findings (GeneRIF, showing 4)

• structure and activity of the human enzyme, a serine peptidase found in the pancreas (PMID:12441343)
• Marapsin’s restricted expression, localization, and cytokine-inducible expression suggest a role in the terminal differentiation of keratinocytes in hyperproliferating squamous epithelia. (PMID:18948266)
• Mutational tail loss is an evolutionary mechanism for liberating marapsins and other type I serine proteases from transmembrane anchors. (PMID:23447538)
• Expression Status of Serine Protease 27: A Prognostic Marker for Esophageal Squamous Cell Carcinoma Treated with Preoperative Chemotherapy/Chemoradiotherapy. (PMID:33452606)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Prss27	ENSMUSG00000050762
rattus_norvegicus	Prss27	ENSRNOG00000005336

Paralogs (14): PRSS33 (ENSG00000103355), PLAT (ENSG00000104368), PLG (ENSG00000122194), PLGLB2 (ENSG00000125551), PRSS37 (ENSG00000165076), KLK15 (ENSG00000174562), PLGLB1 (ENSG00000183281), PRSS57 (ENSG00000185198), TMPRSS12 (ENSG00000186452), OVCH1 (ENSG00000187950), PRSS48 (ENSG00000189099), GZMM (ENSG00000197540), KLK9 (ENSG00000213022), PRSS50 (ENSG00000283706)

Protein

Protein identifiers

Serine protease 27 — Q9BQR3 (reviewed: Q9BQR3)

Alternative names: Marapsin, Pancreasin

All UniProt accessions (2): Q9BQR3, H3BSV0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Tissue specificity. Expressed predominantly in the pancreas.

Post-translational modifications. N-glycosylated.

Similarity. Belongs to the peptidase S1 family.

RefSeq proteins (2): NP_001305324, NP_114154* (*=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 (13 total): disulfide bond 4, active site 3, glycosylation site 2, signal peptide 1, propeptide 1, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BQR3-F1	88.72	0.74

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): 75 (charge relay system); 124 (charge relay system); 229 (charge relay system)

Disulfide bonds (4): 158–235, 191–214, 225–253, 60–76

Glycosylation sites (2): 55, 79

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 72 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_DN, CATRRAGC_UNKNOWN, GOBP_PROTEIN_MATURATION, MODULE_206, RGAGGAARY_PU1_Q6, YYCATTCAWW_UNKNOWN, WGGAATGY_TEF1_Q6, GOBP_PROTEOLYSIS, NIKOLSKY_BREAST_CANCER_16P13_AMPLICON, GOMF_PEPTIDASE_ACTIVITY, DODD_NASOPHARYNGEAL_CARCINOMA_DN, RICKMAN_HEAD_AND_NECK_CANCER_E, GOBP_PROTEIN_PROCESSING, ARID5B_TARGET_GENES, GREB1_TARGET_GENES

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 (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
hydrolase activity	1
catalytic activity, acting on a protein	1
catalytic activity	1
cellular anatomical structure	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

790 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRSS27	KRTAP5-6	Q6L8G9	474
PRSS27	LIPE	Q05469	414
PRSS27	GRINA	Q7Z429	413
PRSS27	STAC3	Q96MF2	362
PRSS27	IAH1	Q2TAA2	308
PRSS27	KCTD5	Q9NXV2	298
PRSS27	FRMD7	Q6ZUT3	294
PRSS27	LCN12	Q6JVE5	293
PRSS27	OVCA2	Q8WZ82	285
PRSS27	SFN	P31947	279
PRSS27	PRSS37	A4D1T9	276
PRSS27	VSIG10L	Q86VR7	273
PRSS27	CCDC112	Q8NEF3	269
PRSS27	ABHD17B	Q5VST6	264
PRSS27	KRTAP5-11	Q6L8G4	247

IntAct

2 interactions, top by confidence:

A	B	Type	Score
AGPAT1	A2ML1	psi-mi:“MI:0914”(association)	0.350

BioGRID (2): PRSS27 (Affinity Capture-MS), TPSG1 (Negative Genetic)

ESM2 similar proteins: A1L453, A2VE36, A6NIE9, A8MTI9, E5RG02, O35453, O70169, P08709, P20231, P21845, P50343, P83748, Q14B25, Q14BX2, Q15661, Q16651, Q2F9P2, Q2F9P4, Q2UVH8, Q3UKY7, Q3V0Q7, Q402U7, Q571E5, Q5FBW1, Q5FBW2, Q5M8S2, Q6AXZ6, Q6BEA2, Q6IE62, Q6IE63, Q6UWB4, Q76HL1, Q7RTY5, Q7Z410, Q7Z5A4, Q8BJR6, Q8K4I7, Q8VIF2, Q920S2, Q99MS4

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	40
Likely benign	6
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1049 predictions. Top by Δscore:

Variant	Effect	Δscore
16:2713514:C:CT	donor_gain	1.0000
16:2713524:C:CA	donor_gain	1.0000
16:2713524:CCCA:C	donor_loss	1.0000
16:2713527:A:T	donor_loss	1.0000
16:2713539:T:TA	donor_gain	1.0000
16:2713547:G:A	donor_gain	1.0000
16:2713551:T:TA	donor_gain	1.0000
16:2713696:GGT:G	acceptor_gain	1.0000
16:2713699:C:CC	acceptor_gain	1.0000
16:2714060:CTTA:C	donor_loss	1.0000
16:2714062:TACC:T	donor_loss	1.0000
16:2714063:ACCTT:A	donor_gain	1.0000
16:2714064:C:CT	donor_loss	1.0000
16:2714064:CCTTC:C	donor_gain	1.0000
16:2714067:T:A	donor_gain	1.0000
16:2714335:TG:T	acceptor_gain	1.0000
16:2714337:C:CC	acceptor_gain	1.0000
16:2713543:T:TA	donor_gain	0.9900
16:2713694:GAGGT:G	acceptor_gain	0.9900
16:2713695:AGGT:A	acceptor_gain	0.9900
16:2713696:GGTC:G	acceptor_loss	0.9900
16:2713697:GT:G	acceptor_gain	0.9900
16:2713699:C:CG	acceptor_loss	0.9900
16:2714064:CCTT:C	donor_gain	0.9900
16:2714121:A:AC	donor_gain	0.9900
16:2714332:AGGTG:A	acceptor_gain	0.9900
16:2714333:GGTG:G	acceptor_gain	0.9900
16:2714334:GTG:G	acceptor_gain	0.9900
16:2714334:GTGC:G	acceptor_loss	0.9900
16:2714337:C:A	acceptor_loss	0.9900

AlphaMissense

1884 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:2713635:C:G	C191S	0.998
16:2713636:A:T	C191S	0.998
16:2713566:C:G	C214S	0.997
16:2713567:A:T	C214S	0.997
16:2714084:C:A	W163C	0.997
16:2714084:C:G	W163C	0.997
16:2712680:C:A	W271C	0.996
16:2712680:C:G	W271C	0.996
16:2714197:C:G	A126P	0.995
16:2712746:C:A	W249C	0.994
16:2712746:C:G	W249C	0.994
16:2715765:G:C	S63R	0.994
16:2715765:G:T	S63R	0.994
16:2715767:T:G	S63R	0.994
16:2715810:C:A	W48C	0.994
16:2715810:C:G	W48C	0.994
16:2715812:A:G	W48R	0.993
16:2715812:A:T	W48R	0.993
16:2712749:G:C	S248R	0.992
16:2712749:G:T	S248R	0.992
16:2712751:T:G	S248R	0.992
16:2713566:C:T	C214Y	0.992
16:2713567:A:G	C214R	0.992
16:2713635:C:T	C191Y	0.992
16:2714099:G:C	C158W	0.992
16:2715775:C:T	C60Y	0.992
16:2713635:C:A	C191F	0.991
16:2715726:G:C	C76W	0.991
16:2715775:C:G	C60S	0.991
16:2715776:A:T	C60S	0.991

dbSNP variants (sampled 300 via entrez): RS1000033814 (16:2721081 C>A,G), RS1000050368 (16:2715636 C>A,T), RS1000067796 (16:2720993 C>A,G,T), RS1000287616 (16:2716415 G>A,T), RS1000333591 (16:2716629 T>C), RS1000642402 (16:2713298 CTGTG>C,CTG), RS1000892863 (16:2717534 C>T), RS1001266948 (16:2720573 C>A), RS1001278431 (16:2712994 C>T), RS1001339389 (16:2717094 G>A,C), RS1001387883 (16:2717307 G>A,C), RS1002133586 (16:2721558 C>A,T), RS1002170171 (16:2721734 A>G), RS1002230888 (16:2721992 G>A), RS1002645538 (16:2714903 TTTTG>T)

Disease associations

OMIM: gene MIM:608018 | 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: yes

ChEMBL targets (1): CHEMBL6196117 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression	2
Benzo(a)pyrene	affects methylation, decreases methylation	2
bisphenol A	decreases methylation	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
nutlin 3	affects cotreatment, increases expression	1
abrine	increases expression	1
bisphenol S	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	increases abundance, increases expression	1
Camptothecin	increases expression	1
Dactinomycin	affects cotreatment, increases expression	1
Diazinon	decreases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Rotenone	decreases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Valproic Acid	increases methylation	1
Gold Compounds	increases expression	1
Cadmium Chloride	increases expression	1
Okadaic Acid	decreases expression	1
Acrylamide	decreases expression	1
Particulate Matter	increases expression, increases abundance	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL6110328	Binding	Inhibition of marapsin (unknown origin)	Small molecule inhibitors of mannan-binding lectin-associated serine Proteases-2 and-3. — Eur J Med Chem

Clinical trials (associated diseases)

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