OVCH1

Summary

OVCH1 (ovochymase 1, HGNC:23080) is a protein-coding gene on chromosome 12p11.22, encoding Ovochymase-1 (Q7RTY7).

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

Source: NCBI Gene 341350 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 187 total
• MANE Select transcript: NM_001353179

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23080
Approved symbol	OVCH1
Name	ovochymase 1
Location	12p11.22
Locus type	gene with protein product
Status	Approved
Aliases	OVCH
Ensembl gene	ENSG00000187950
Ensembl biotype	protein_coding
OMIM	621069
Entrez	341350

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000318184, ENST00000537054, ENST00000539117, ENST00000696934

RefSeq mRNA: 1 — MANE Select: NM_001353179 NM_001353179

CCDS: CCDS91669

Canonical transcript exons

ENST00000537054 — 26 exons

Exon	Start	End
ENSE00001257942	29455249	29455405
ENSE00001257952	29461854	29462008
ENSE00001257959	29465147	29465219
ENSE00001257985	29475061	29475189
ENSE00001257993	29476206	29476299
ENSE00001258003	29477102	29477232
ENSE00001258031	29487693	29487882
ENSE00001258038	29489620	29489771
ENSE00001258044	29491097	29491192
ENSE00001258050	29495285	29495457
ENSE00001258059	29496181	29496278
ENSE00001296106	29464507	29464702
ENSE00001301732	29471802	29471982
ENSE00001371497	29454841	29454933
ENSE00001373935	29473029	29473103
ENSE00001373996	29445278	29445403
ENSE00001378978	29451345	29451569
ENSE00001379261	29496556	29496674
ENSE00001381890	29444145	29444280
ENSE00001382236	29497623	29497686
ENSE00001385005	29443361	29443500
ENSE00002247015	29439853	29440744
ENSE00003968965	29478835	29478968
ENSE00003968967	29486250	29486348
ENSE00003968975	29484713	29484800
ENSE00003968977	29477341	29477478

Expression profiles

Bgee: expression breadth ubiquitous, 125 present calls, max score 74.99.

Top tissues by expression

130 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	74.99	gold quality
right lung	UBERON:0002167	69.31	gold quality
upper lobe of left lung	UBERON:0008952	66.24	gold quality
spleen	UBERON:0002106	65.81	gold quality
tibial artery	UBERON:0007610	64.47	gold quality
popliteal artery	UBERON:0002250	64.42	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	64.11	gold quality
lung	UBERON:0002048	61.57	gold quality
descending thoracic aorta	UBERON:0002345	60.80	gold quality
left coronary artery	UBERON:0001626	60.14	gold quality
sural nerve	UBERON:0015488	59.57	gold quality
omental fat pad	UBERON:0010414	58.64	gold quality
adipose tissue	UBERON:0001013	57.18	gold quality
thoracic aorta	UBERON:0001515	56.71	gold quality
tibial nerve	UBERON:0001323	56.41	gold quality
ascending aorta	UBERON:0001496	56.38	gold quality
subcutaneous adipose tissue	UBERON:0002190	56.06	gold quality
right coronary artery	UBERON:0001625	55.63	gold quality
adrenal tissue	UBERON:0018303	55.61	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	55.31	gold quality
lower esophagus	UBERON:0013473	55.22	gold quality
lower esophagus muscularis layer	UBERON:0035833	55.20	gold quality
heart left ventricle	UBERON:0002084	54.78	gold quality
gastrocnemius	UBERON:0001388	54.51	gold quality
left testis	UBERON:0004533	54.40	gold quality
left adrenal gland	UBERON:0001234	54.38	gold quality
right adrenal gland	UBERON:0001233	54.35	gold quality
adrenal gland	UBERON:0002369	54.10	gold quality
apex of heart	UBERON:0002098	54.06	gold quality
testis	UBERON:0000473	53.90	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	5.19

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000102823

Paralogs (14): PRSS33 (ENSG00000103355), PLAT (ENSG00000104368), PLG (ENSG00000122194), PLGLB2 (ENSG00000125551), PRSS37 (ENSG00000165076), PRSS27 (ENSG00000172382), KLK15 (ENSG00000174562), PLGLB1 (ENSG00000183281), PRSS57 (ENSG00000185198), TMPRSS12 (ENSG00000186452), PRSS48 (ENSG00000189099), GZMM (ENSG00000197540), KLK9 (ENSG00000213022), PRSS50 (ENSG00000283706)

Protein

Protein identifiers

Ovochymase-1 — Q7RTY7 (reviewed: Q7RTY7)

All UniProt accessions (2): Q7RTY7, H0YGY6

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Secreted.

Similarity. Belongs to the peptidase S1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q7RTY7-1	1	yes
Q7RTY7-2	2

RefSeq proteins (1): NP_001340108* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000859	CUB_dom	Domain
IPR001254	Trypsin_dom	Domain
IPR001314	Peptidase_S1A	Family
IPR009003	Peptidase_S1_PA	Homologous_superfamily
IPR018114	TRYPSIN_HIS	Active_site
IPR033116	TRYPSIN_SER	Active_site
IPR035914	Sperma_CUB_dom_sf	Homologous_superfamily
IPR043504

Pfam: PF00089, PF00431

UniProt features (46 total): disulfide bond 12, sequence variant 9, active site 6, glycosylation site 6, domain 5, splice variant 4, signal peptide 1, propeptide 1, binding site 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7RTY7-F1	66.63	0.16

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 (6): 237 (charge relay system); 615 (charge relay system); 664 (charge relay system); 763 (charge relay system); 87 (charge relay system); 139 (charge relay system)

Ligand- & substrate-binding residues (1): 116

Disulfide bonds (12): 72–88, 173–243, 204–222, 233–262, 341–373, 419–446, 473–494, 600–616, 698–769, 729–747, 759–788, 846–873

Glycosylation sites (6): 52, 99, 324, 431, 507, 1106

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 11 (showing top): chr12p11, GOBP_FERTILIZATION, GOBP_PROTEOLYSIS, GOMF_PEPTIDASE_ACTIVITY, GAO_LARGE_INTESTINE_ADULT_CE_OLFM4HIGH_STEM_CELL, DESCARTES_MAIN_FETAL_SLC24A4_PEX5L_POSITIVE_CELLS, DESCARTES_FETAL_SPLEEN_STROMAL_CELLS, GOMF_SERINE_HYDROLASE_ACTIVITY, GOBP_SEXUAL_REPRODUCTION, GOBP_REPRODUCTIVE_PROCESS, GOMF_ENDOPEPTIDASE_ACTIVITY

GO Biological Process (2): proteolysis (GO:0006508), fertilization (GO:0009566)

GO Molecular Function (5): serine-type endopeptidase activity (GO:0004252), metal ion binding (GO:0046872), 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
sexual reproduction	1
reproductive process	1
endopeptidase activity	1
serine-type peptidase activity	1
cation 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

464 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OVCH1	LINC03043	A4D0Y5	580
OVCH1	CYB561D2	O14569	576
OVCH1	LCN1	P31025	538
OVCH1	TSPAN19	P0C672	467
OVCH1	FAM216B	Q8N7L0	449
OVCH1	ZBTB9	Q96C00	376
OVCH1	TOGARAM2	Q6ZUX3	367
OVCH1	TMEM212	A6NML5	360
OVCH1	SNTN	A6NMZ2	353
OVCH1	CCDC180	Q9P1Z9	350
OVCH1	PAAF1	Q9BRP4	345
OVCH1	CFAP46	Q8IYW2	324
OVCH1	ST8SIA6	P61647	321
OVCH1	CCT7	Q99832	314
OVCH1	GATB	O75879	311

IntAct

4 interactions, top by confidence:

A	B	Type	Score
OVCH1	H2BC12L	psi-mi:“MI:0915”(physical association)	0.400
OVCH1	HIST2H2BF	psi-mi:“MI:0915”(physical association)	0.400
OVCH1	KRT8	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (5): OVCH1 (Proximity Label-MS), OVCH1 (Proximity Label-MS), OVCH1 (Proximity Label-MS), OVCH1 (Reconstituted Complex), TBC1D5 (Cross-Linking-MS (XL-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: A0A182C2Z2, B8V7S0, O08762, O60235, P00747, P00760, P00762, P00765, P00766, P00767, P00774, P03951, P03952, P04070, P04813, P05981, P06867, P06871, P06872, P07146, P07338, P07477, P08217, P08426, P08519, P12545, P14272, P15944, P17538, P19799, P20231, P20918, P26262, P27435, P29786, P35033, P40313, P47796, P50342, P56677

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	160
Likely benign	12
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4110 predictions. Top by Δscore:

Variant	Effect	Δscore
12:29444138:T:TA	donor_gain	1.0000
12:29444140:CTTA:C	donor_loss	1.0000
12:29444141:TTACC:T	donor_loss	1.0000
12:29444142:TACCC:T	donor_loss	1.0000
12:29444143:AC:A	donor_gain	1.0000
12:29444143:ACC:A	donor_gain	1.0000
12:29444144:CC:C	donor_gain	1.0000
12:29444144:CCC:C	donor_gain	1.0000
12:29444281:C:CC	acceptor_gain	1.0000
12:29473102:CT:C	acceptor_gain	1.0000
12:29475056:CTCA:C	donor_loss	1.0000
12:29475057:TCACC:T	donor_loss	1.0000
12:29475058:CACCT:C	donor_loss	1.0000
12:29475059:ACCTG:A	donor_loss	1.0000
12:29475060:C:CA	donor_loss	1.0000
12:29475185:TTTAG:T	acceptor_gain	1.0000
12:29475186:TTAG:T	acceptor_gain	1.0000
12:29475187:TAG:T	acceptor_gain	1.0000
12:29475187:TAGC:T	acceptor_loss	1.0000
12:29475190:C:CA	acceptor_loss	1.0000
12:29475190:C:CC	acceptor_gain	1.0000
12:29476300:C:CC	acceptor_gain	1.0000
12:29476302:G:C	acceptor_gain	1.0000
12:29477336:CTCA:C	donor_loss	1.0000
12:29477339:A:AC	donor_gain	1.0000
12:29477340:C:CC	donor_gain	1.0000
12:29477340:CCTG:C	donor_gain	1.0000
12:29477478:CCT:C	acceptor_gain	1.0000
12:29477480:T:C	acceptor_gain	1.0000
12:29477480:T:TC	acceptor_gain	1.0000

AlphaMissense

7144 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000029632 (12:29438942 G>A,C), RS1000034747 (12:29439147 T>G), RS1000066924 (12:29414967 C>T), RS1000112246 (12:29482355 G>A,T), RS1000147362 (12:29464106 C>T), RS1000148714 (12:29499545 G>A), RS1000162906 (12:29419903 G>T), RS1000213260 (12:29477018 A>G,T), RS1000221330 (12:29413138 A>G), RS1000244190 (12:29476720 C>A), RS1000289632 (12:29498754 G>A,C), RS1000292558 (12:29446582 A>G), RS1000361979 (12:29483521 C>T), RS1000378693 (12:29425943 A>C), RS1000401355 (12:29441329 A>C,G)

Disease associations

OMIM: gene MIM:621069 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST009391_1012	Metabolite levels	9.000000e-06
GCST009391_1376	Metabolite levels	7.000000e-06
GCST009391_1383	Metabolite levels	2.000000e-06
GCST009391_2026	Metabolite levels	5.000000e-06
GCST009391_267	Metabolite levels	4.000000e-06
GCST009391_618	Metabolite levels	7.000000e-06
GCST010396_115	Gut microbiota (bacterial taxa, hurdle binary method)	7.000000e-07
GCST010396_203	Gut microbiota (bacterial taxa, hurdle binary method)	4.000000e-06

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0010359	lysophosphatidylcholine 18:0 measurement
EFO:0010367	lysophosphatidylethanolamine 18:0 measurement
EFO:0010368	lysophosphatidylethanolamine 18:1 measurement
EFO:0010371	lysophosphatidylethanolamine 22:6 measurement
EFO:0010427	triacylglycerol 54:9 measurement
EFO:0009793	isoleucine measurement
EFO:0007874	gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation	1
sodium arsenite	increases expression	1
bisphenol S	decreases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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