MASP1

Summary

MASP1 (MBL associated serine protease 1, HGNC:6901) is a protein-coding gene on chromosome 3q27.3, encoding Mannan-binding lectin serine protease 1 (P48740). Precursor of a serum protease that activates the complement pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system.

This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 5648 — RefSeq curated summary.

At a glance

• Gene–disease (curated): 3MC syndrome 1 (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 4
• Clinical variants (ClinVar): 379 total — 14 pathogenic, 10 likely-pathogenic
• Phenotypes (HPO): 61
• Druggable target: yes
• MANE Select transcript: NM_139125

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6901
Approved symbol	MASP1
Name	MBL associated serine protease 1
Location	3q27.3
Locus type	gene with protein product
Status	Approved
Aliases	MASP, Map44, MASP-3, MAP-1
Ensembl gene	ENSG00000127241
Ensembl biotype	protein_coding
OMIM	600521
Entrez	5648

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 15 protein_coding, 4 protein_coding_CDS_not_defined, 3 retained_intron

ENST00000169293, ENST00000296280, ENST00000337774, ENST00000392470, ENST00000392472, ENST00000392475, ENST00000425937, ENST00000439271, ENST00000460839, ENST00000465015, ENST00000468121, ENST00000480349, ENST00000483719, ENST00000490558, ENST00000495249, ENST00000909623, ENST00000909624, ENST00000909625, ENST00000909626, ENST00000909627, ENST00000929656, ENST00000951858

RefSeq mRNA: 3 — MANE Select: NM_139125 NM_001031849, NM_001879, NM_139125

CCDS: CCDS33907, CCDS33908, CCDS33909

Canonical transcript exons

ENST00000296280 — 11 exons

Exon	Start	End
ENSE00001899960	187291628	187291737
ENSE00002471560	187243484	187243621
ENSE00002482815	187251634	187251752
ENSE00002484270	187256664	187256860
ENSE00002495434	187253168	187253315
ENSE00002520004	187250251	187250329
ENSE00003499653	187262543	187262720
ENSE00003561132	187260741	187260872
ENSE00003590499	187234082	187236567
ENSE00003646090	187241481	187241555
ENSE00003654140	187285825	187286056

Expression profiles

Bgee: expression breadth ubiquitous, 204 present calls, max score 97.52.

FANTOM5 (CAGE): breadth broad, TPM avg 10.1686 / max 318.4261, expressed in 583 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
45992	8.5582	551
45994	0.9456	255
45993	0.4587	196
45996	0.1212	43
45995	0.0849	37

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endocervix	UBERON:0000458	97.52	gold quality
right lobe of liver	UBERON:0001114	96.72	gold quality
apex of heart	UBERON:0002098	95.85	gold quality
body of uterus	UBERON:0009853	95.79	gold quality
ectocervix	UBERON:0012249	95.47	gold quality
cortical plate	UBERON:0005343	94.84	gold quality
stromal cell of endometrium	CL:0002255	94.22	gold quality
heart left ventricle	UBERON:0002084	94.12	gold quality
ventricular zone	UBERON:0003053	93.85	gold quality
cardiac ventricle	UBERON:0002082	93.83	gold quality
muscle layer of sigmoid colon	UBERON:0035805	93.31	gold quality
liver	UBERON:0002107	92.87	gold quality
urethra	UBERON:0000057	92.02	gold quality
vagina	UBERON:0000996	91.24	gold quality
mammalian vulva	UBERON:0000997	91.21	gold quality
heart right ventricle	UBERON:0002080	90.80	gold quality
myometrium	UBERON:0001296	90.75	gold quality
heart	UBERON:0000948	90.70	gold quality
right atrium auricular region	UBERON:0006631	90.20	gold quality
cardiac atrium	UBERON:0002081	89.02	gold quality
triceps brachii	UBERON:0001509	88.94	silver quality
ganglionic eminence	UBERON:0004023	87.78	gold quality
sigmoid colon	UBERON:0001159	86.85	gold quality
diaphragm	UBERON:0001103	86.60	silver quality
uterus	UBERON:0000995	86.50	gold quality
hindlimb stylopod muscle	UBERON:0004252	85.48	gold quality
myocardium	UBERON:0002349	85.37	silver quality
biceps brachii	UBERON:0001507	84.84	gold quality
prostate gland	UBERON:0002367	84.41	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	83.87	silver quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ENAD-17	no	831.48
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

167 targeting MASP1, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4534	99.99	66.58	1907
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784

Literature-anchored findings (GeneRIF, showing 40)

• whereas the Prosalpha6 subunit is expressed in early stages of spermatogenesis, gradually fading away following meiosis, the testis-specific Prosalpha6T becomes prominent in spermatid nuclei and cytoplasm after meiosis, and persists in mature sperm (PMID:17728345)
• When incubated with the pathogenic organism Staphylococcus aureus, mannose-binding lectin-associated MASP enhances complement activation and opsonophagocytosis. (PMID:12370377)
• The interaction of recombinant MASP1, its N-terminal complement modules, and MBL-associated protein 19 with L-ficolin/p35 has been characterized by surface plasmon resonance spectroscopy. (PMID:12421953)
• detection of a processed pseudogene of this protein (PMID:12601245)
• On average, high MASP-1 correlates with low MASP-2 and vice-versa, and confirms the hypothesis that native MBL-MASP complexes on average do not have fixed MBL-(MASP-1)-(MASP-2) stoichiometry. (PMID:16102832)
• The mRNA distribution of masp1 and masp2 were found very similar to that of mbl2, while masp3 mRNA seemed ubiquitous present at quite high levels when compared to liver. (PMID:16112196)
• MASP1 gene harbors a low-frequent polymorphic site resulting in an amino acid substitution, which may influence the function of the gene product. (PMID:17444953)
• mannose-binding lectin (MBL)/MBL-associated serine protease (MASP) complexes and L-ficolin/MASP complexes bind to different strains of GBS to activate the lectin pathway (PMID:17938215)
• rMASP1 and thrombin cleave factor XIII A-chain and the fibrinogen beta-chain at identical sites, but differ in cleavage of the fibrinogen alpha-chain. (PMID:18456010)
• crystallographic analysis of the CUB1-EGF-CUB2 domain of human MASP-1/3 and identification of its interaction sites with mannan-binding lectin and ficolins (PMID:18596036)
• structure shows that its substrate binding groove is accessible; however, its reactivity could be modulated by an unusually large 60-loop and an internal salt bridge involving the S1 Asp. (PMID:19564340)
• EPHB3, MASP1 and SST map to 3q26.2-q29 and may have roles in squamous cell carcinoma of the lung (PMID:19607727)
• MASP-1-induced protease-activated receptor (PAR)4 activation could contribute to the development of the inflammatory reaction. (PMID:19667088)
• MAp44, a novel third splice product of the MASP1 gene, which associates with pattern-recognition molecules of the complement system and regulates the lectin pathway of complement activation. (PMID:19917686)
• We present a novel, phylogenetically conserved protein, MAp44, which is found in human serum at 1.4 microg/ml in Ca(2+)-dependent complexes with the soluble pattern recognition molecules. (PMID:19917686)
• MBL-associated serine protease-3 down-regulate Ficolin-3 mediated complement activation through the lectin pathway. (PMID:19939495)
• novel 45-kDa serum protein derived from the MASP1 gene, which is highly expressed in striated muscle tissues and is found in complex with MBL and ficolins and may function as a potent inhibitor of the complement system in vivo (PMID:20053996)
• The normal serum level of the second and third splice products of the MASP1 gene, MASP-3 and MAp44, have been established, as well as their ontogeny and acute phase response. (PMID:20673767)
• MASP-1 has a crucial role in the initiation steps of lectin pathway activation most probably by activating MASP-2 (PMID:20817870)
• These results implicate mutations of MASP1 as the cause of a human malformation syndrome and demonstrate the involvement of MASP1 in facial, umbilical, and ear development during the embryonic period. (PMID:21035106)
• MBL-associated serine protease 3 (MASP-3) also inhibited binding between MBL and CD91, suggesting that the site of interaction is located at or near the MASP-MBL interaction site. (PMID:21054788)
• these findings demonstrate a role for complement pathway factors in fundamental developmental processes and in the etiology of 3MC syndrome. (PMID:21258343)
• showed that MASP-1 was able to cleave HK resulting in BK production. MASP-2 could also cleave HK but could not release BK. The cleavage pattern of MASPs is similar but not strictly identical to that of kallikrein (PMID:21625439)
• Monospecific inhibitors show that both mannan-binding lectin-associated serine protease-1 (MASP-1) and -2 Are essential for lectin pathway activation and reveal structural plasticity of MASP-2. (PMID:22511776)
• MASP-1, in concerted action with other complement and coagulation proteins, may play a role in fibrin clot formation. (PMID:22536427)
• The interaction of mannan-binding lectin (MBL) with its associated serine proteases (MASPs) was investigated using recombinant (r) MBL, plasma-derived (pd) MBL, rMASP-3 and rMAp19. rMASP-3 and rMAp19 bound to free available sites on rMBL and pdMBL. (PMID:22607836)
• MASP-1 was present at adult level at 1 year of age, while it was 60% at birth. The present data prepare the ground for studies on the associations of MASP-1 levels with disease. (PMID:22670777)
• MASP-1 activates MASP-2 and, moreover, inhibition of MASP-1 prevents autoactivation of MASP-2 (PMID:22691502)
• MAP-1 competes with all three MASPs for ligand binding and is able to mediate a strong dose-dependent inhibitory effect on the lectin pathway activation, as measured by levels of C3 and C9. (PMID:22854970)
• A crucial role of MASP-1 is demonstrated in the activation of MASP-2, as well as of MASP-3, based on a patient harboring a nonsense mutation in the common part of the MASP1 gene. (PMID:22966085)
• collectin-11 associates with all the known MBL-associated serine proteases (MASP-1, MASP-2 and MASP-3) as well as the lectin complement pathway regulator MAP-1. (PMID:23220946)
• autoactivation of MASP-1 is crucial for the activation of MBL/ficolin.MASP complexes, and in the proenzymic phase zymogen MASP-1 controls the process (PMID:23386610)
• MASP-1 seems to be involved in activation of both the lectin and alternative complement pathways–{review} (PMID:23402018)
• In this study, we demonstrate that, although MASPs do not directly form heterodimers, the addition of mannan-binding lectin or ficolins allows the formation of MASP-1-MASP-2 co-complexes. (PMID:23785123)
• insights into the function of MASP-3 reveal how a mutation in this enzyme causes it to be inactive and thus contribute to the 3MC syndrome. (PMID:23792966)
• accelerates fibrosis progression in hepatitis C virus-induced liver disease (PMID:23841802)
• The serine protease domain of MASP-3 exerts weak enzymatic activity. (PMID:23861840)
• Studies indicate that initiation of lectin compleme pathway leads to activation of the serine proteases MASP-1 and MASP-2 resulting in deposition of C4 on the activator and assembly of the C3 convertase. (PMID:23911397)
• Polymorphisms in the MASP1 gene are associated with serum levels of MASP-1, MASP-3, and MAp44 (PMID:24023860)
• Data indicate that MASP-1 and MASP-2 can readily form heterodimers after dissociation and re-association, however, in the presence of Ca(2+) exchange of subunits is slow between the homodimers. (PMID:24424083)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	masp1	ENSDARG00000068726
mus_musculus	Masp1	ENSMUSG00000022887
rattus_norvegicus	Masp1	ENSRNOG00000001827

Paralogs (2): MASP2 (ENSG00000009724), PRRG2 (ENSG00000126460)

Protein

Protein identifiers

Mannan-binding lectin serine protease 1 — P48740 (reviewed: P48740)

Alternative names: Complement-activating component of Ra-reactive factor, Mannose-binding lectin-associated serine protease 1, Mannose-binding protein-associated serine protease, Ra-reactive factor serine protease p100, Serine protease 5

All UniProt accessions (5): P48740, C9J1C7, C9JLU5, C9JMA2, F8W876

UniProt curated annotations — full annotation on UniProt →

Function. Precursor of a serum protease that activates the complement pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system. Serine protease that activates the lectin pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system. The lectin complement system is activated following association of lectins, such as MBL2, FCN1, FCN2 or FCN3, to carbohydrates on the pathogen surface. Following autoproteolytic processing in response to lectin-binding to pathogen carbohydrates, catalyzes cleavage and activation of MASP2, the next component of the lectin complement pathway. Serine protease that activates the alternative pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system. The alternative complement pathway acts as an amplification loop that enhances other complement pathways. Isoform MASP-3 specifically catalyzes cleavage and activation of factor D (CFD), the protease that initiates the alternative complement pathway.

Subunit / interactions. Homodimer. Interacts with the oligomeric lectins MBL2, FCN2 and FCN3; triggers the lectin pathway of complement. Interacts with COLEC11; probably triggers the lectin pathway of complement. Interacts with SERPING1.

Subcellular location. Secreted Secreted. Cell surface Secreted.

Tissue specificity. Protein of the plasma which is primarily expressed by liver.

Post-translational modifications. Autoproteolytic processing of the proenzyme produces the active enzyme composed on the heavy and the light chain held together by a disulfide bond. In contrast to isoform MASP-1, not activated through autoproteolytic processing.

Disease relevance. 3MC syndrome 1 (3MC1) [MIM:257920] A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Inhibited by SERPING1. The protease activity is specifically inhibited by SGMI-1 small protein inhibitor. The protease activity is specifically inhibited by TFMI-3. (Microbial infection) Serine protease activity is inhibited by E.Coli ecotin (eco). (Microbial infection) Serine protease activity is inhibited by E.Coli ecotin (eco).

Similarity. Belongs to the peptidase S1 family.

Isoforms (4)

UniProt ID	Names	Canonical?
P48740-1	MASP-1, MASP1	yes
P48740-2	MASP-3, 2, MASP3
P48740-3	3
P48740-4	4

RefSeq proteins (3): NP_001027019, NP_001870, NP_624302* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000436	Sushi_SCR_CCP_dom	Domain
IPR000742	EGF	Domain
IPR000859	CUB_dom	Domain
IPR001254	Trypsin_dom	Domain
IPR001314	Peptidase_S1A	Family
IPR001881	EGF-like_Ca-bd_dom	Domain
IPR009003	Peptidase_S1_PA	Homologous_superfamily
IPR018097	EGF_Ca-bd_CS	Conserved_site
IPR018114	TRYPSIN_HIS	Active_site
IPR024175	Pept_S1A_C1r/C1S/mannan-bd	Family
IPR033116	TRYPSIN_SER	Active_site
IPR035914	Sperma_CUB_dom_sf	Homologous_superfamily
IPR035976	Sushi/SCR/CCP_sf	Homologous_superfamily
IPR043504

Pfam: PF00084, PF00089, PF00431

Enzyme classification (BRENDA):

• EC 3.4.21.B7 — (BRENDA: organisms, substrates, inhibitors, Km, kcat entries)

UniProt features (172 total): strand 48, disulfide bond 18, mutagenesis site 17, binding site 14, sequence variant 12, sequence conflict 12, turn 11, helix 8, active site 6, glycosylation site 6, domain 6, splice variant 5, chain 3, region of interest 3, signal peptide 1, site 1, modified residue 1

Structure

Experimental structures (PDB)

9 structures.

PDB	Method	Resolution (Å)
3DEM	X-RAY DIFFRACTION	2.3
7ARX	X-RAY DIFFRACTION	2.42
4IGD	X-RAY DIFFRACTION	2.5
3GOV	X-RAY DIFFRACTION	2.55
4KKD	X-RAY DIFFRACTION	2.6
4DJZ	X-RAY DIFFRACTION	3.2
4IW4	X-RAY DIFFRACTION	3.2
7PQO	X-RAY DIFFRACTION	3.39
4AQB	X-RAY DIFFRACTION	4.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P48740-F1	90.50	0.79

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 (7): 490 (charge relay system); 552 (charge relay system); 646 (charge relay system); 497 (charge relay system); 553 (charge relay system); 664 (charge relay system); 448–449 (cleavage; by autolysis)

Ligand- & substrate-binding residues (14): 68; 76; 121; 123; 139; 140; 142; 159; 160; 163; 235; 245 …

Post-translational modifications (1): 159

Disulfide bonds (18): 436–573, 630–649, 660–692, 73–91, 143–157, 153–166, 168–181, 185–212, 242–260, 301–349, 329–362, 367–414, 397–432, 436, 475–491, 572, 614–631, 642–672

Glycosylation sites (6): 533, 599, 49, 178, 385, 407

Mutagenesis-validated functional residues (17):

Position	Phenotype
448	promotes cleavage and activation by c1r.
68	partial loss of interaction with fcn2, fcn3 and mbl2.
77	partial loss of interaction with fcn2, fcn3 and mbl2.
99	partial loss of interaction with fcn2, fcn3 and mbl2.
121	loss of interaction with fnc2 and fcn3 and partial loss of interaction with mbl2.
122	partial loss of interaction with fcn2, fcn3 and mbl2.
123	partial loss of interaction with fcn2, fcn3 and mbl2.
125	partial loss of interaction with fcn2, fcn3 and mbl2.
237	loss of interaction with fcn2, fcn3 and mbl2.
239	partial loss of interaction with fcn2, fcn3 and mbl2.
244	loss of interaction with fcn2, fcn3 and mbl2.
262	partial loss of interaction with fcn2, fcn3 and mbl2.
274	partial loss of interaction with fcn2 and fcn3. no effect on interaction with mbl2.
283	partial loss of interaction with fcn2, fcn3 and mbl2.
286	partial loss of interaction with fcn2, fcn3 and mbl2.
448	abolished autocatalytic cleavage.
646	abolished serine protease activity. no autoproteolytic processing.

Function

Pathways and Gene Ontology

Reactome pathways

17 pathways

ID	Pathway
R-HSA-166662	Lectin pathway of complement activation
R-HSA-166663	Initial triggering of complement
R-HSA-2855086	Ficolins bind to repetitive carbohydrate structures on the target cell surface
R-HSA-3000480	Scavenging by Class A Receptors
R-HSA-9705671	SARS-CoV-2 activates/modulates innate and adaptive immune responses
R-HSA-1643685	Disease
R-HSA-166658	Complement cascade
R-HSA-166786	Creation of C4 and C2 activators
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-2173782	Binding and Uptake of Ligands by Scavenger Receptors
R-HSA-5653656	Vesicle-mediated transport
R-HSA-5663205	Infectious disease
R-HSA-9679506	SARS-CoV Infections
R-HSA-9694516	SARS-CoV-2 Infection
R-HSA-9705683	SARS-CoV-2-host interactions
R-HSA-9824446	Viral Infection Pathways

MSigDB gene sets: 396 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, REACTOME_CREATION_OF_C4_AND_C2_ACTIVATORS, GCANCTGNY_MYOD_Q6, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOCC_CELL_SURFACE, TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT, CAGCTG_AP4_Q5, WOTTON_RUNX_TARGETS_UP, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS

GO Biological Process (13): complement activation, lectin pathway (GO:0001867), complement activation, alternative pathway (GO:0006957), zymogen activation (GO:0031638), negative regulation of complement activation (GO:0045916), protein maturation (GO:0051604), activation of membrane attack complex (GO:0001905), immune system process (GO:0002376), proteolysis (GO:0006508), complement activation (GO:0006956), humoral immune response (GO:0006959), opsonization (GO:0008228), killing of cells of another organism (GO:0031640), innate immune response (GO:0045087)

GO Molecular Function (10): serine-type endopeptidase activity (GO:0004252), calcium ion binding (GO:0005509), peptidase activity (GO:0008233), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), calcium-dependent protein binding (GO:0048306), protein binding (GO:0005515), serine-type peptidase activity (GO:0008236), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)

GO Cellular Component (5): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), nucleoplasm (GO:0005654), cytosol (GO:0005829), symbiont cell surface (GO:0106139)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
Creation of C4 and C2 activators	1
Complement cascade	1
Lectin pathway of complement activation	1
Binding and Uptake of Ligands by Scavenger Receptors	1
SARS-CoV-2-host interactions	1
Innate Immune System	1
Initial triggering of complement	1
Immune System	1
Vesicle-mediated transport	1
Disease	1
Viral Infection Pathways	1
SARS-CoV Infections	1
SARS-CoV-2 Infection	1
Infectious disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
complement activation	4
cellular anatomical structure	3
innate immune response	2
protein metabolic process	2
immune effector process	2
immune response	2
protein binding	2
protein processing	1
negative regulation of immune effector process	1
negative regulation of humoral immune response	1
regulation of complement activation	1
gene expression	1
biological_process	1
activation of immune response	1
humoral immune response	1
protein activation cascade	1
phagocytosis, recognition	1
cell killing	1
disruption of cell in another organism	1
defense response to symbiont	1
endopeptidase activity	1
serine-type peptidase activity	1
metal ion binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
identical protein binding	1
protein dimerization activity	1
calcium ion binding	1
binding	1
peptidase activity	1
serine hydrolase activity	1
catalytic activity	1
cation binding	1
nuclear lumen	1
cytoplasm	1
other organism part	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

32 interactions, top by confidence:

A	B	Type	Score
ERRFI1	EGFR	psi-mi:“MI:0914”(association)	0.930
ERBB3	PIK3R2	psi-mi:“MI:0914”(association)	0.700
MASP1	MBL2	psi-mi:“MI:0915”(physical association)	0.640
COLEC11	MASP1	psi-mi:“MI:0915”(physical association)	0.560
SFTPD	MASP1	psi-mi:“MI:0407”(direct interaction)	0.440
FCN3	MASP1	psi-mi:“MI:0407”(direct interaction)	0.440
FCN2	MASP1	psi-mi:“MI:0407”(direct interaction)	0.440
FCN1	MASP1	psi-mi:“MI:0915”(physical association)	0.400
MASP2	MASP1	psi-mi:“MI:0915”(physical association)	0.400
MASP1	C4A	psi-mi:“MI:0915”(physical association)	0.400
	CD5L	psi-mi:“MI:0915”(physical association)	0.400
MASP1	GADD45A	psi-mi:“MI:0915”(physical association)	0.370
GSK3B	MASP1	psi-mi:“MI:0915”(physical association)	0.370
MASP1	H2AX	psi-mi:“MI:0915”(physical association)	0.370
MASP1	MAPK6	psi-mi:“MI:0915”(physical association)	0.370
MASP1	MAPK8IP2	psi-mi:“MI:0915”(physical association)	0.370
MASP1	NCK2	psi-mi:“MI:0915”(physical association)	0.370
MASP1	NUDT21	psi-mi:“MI:0915”(physical association)	0.370
RPS6KA3	MASP1	psi-mi:“MI:0915”(physical association)	0.370
MASP1	RPS6KA6	psi-mi:“MI:0915”(physical association)	0.370
UFD1	MASP1	psi-mi:“MI:0915”(physical association)	0.370
UTP4	MASP1	psi-mi:“MI:0914”(association)	0.350
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350
	MASP2	psi-mi:“MI:0914”(association)	0.350
	MASP1	psi-mi:“MI:0914”(association)	0.350
COLEC11	ALB	psi-mi:“MI:0914”(association)	0.350
MASP1	MASP2	psi-mi:“MI:0914”(association)	0.350
CDK7	A2M	psi-mi:“MI:0914”(association)	0.350
AP2M1	CTNND1	psi-mi:“MI:0914”(association)	0.350

BioGRID (26): MASP1 (Affinity Capture-MS), MASP1 (Affinity Capture-MS), MASP1 (Synthetic Lethality), MASP1 (Reconstituted Complex), MASP1 (Co-fractionation), MASP1 (Positive Genetic), MASP1 (Affinity Capture-Western), MASP2 (Affinity Capture-Western), MASP1 (Reconstituted Complex), FCN2 (Reconstituted Complex), MASP1 (Affinity Capture-MS), MASP1 (Two-hybrid), MASP1 (Two-hybrid), MASP1 (Two-hybrid), MASP1 (Two-hybrid)

ESM2 similar proteins: A1KZ92, A2ARA8, A2VCU8, A6QR11, O00187, P00736, P09871, P15156, P32004, P48740, P53708, P57110, P59384, P59511, P85171, P97857, P98064, Q0PMG2, Q0VCX1, Q15113, Q2VWQ2, Q4R577, Q4VC17, Q5R1W3, Q5R3Z7, Q5R544, Q61220, Q62918, Q62919, Q69DK8, Q69Z28, Q6P6T1, Q7ZXL5, Q8CFG8, Q8CFG9, Q8CG14, Q8CG16, Q8CHN8, Q8TE57, Q8TE58

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

13 interactions.

A	Effect	B	Mechanism
FCN3	“up-regulates activity”	MASP1	binding
FCN2	“up-regulates activity”	MASP1	binding
MBL2	“up-regulates activity”	MASP1	binding
MASP1	“up-regulates activity”	C2	cleavage
MASP1	“form complex”	“Ficolin lectin-protease complex”	binding
COLEC11	“up-regulates activity”	MASP1	binding
MASP1	“up-regulates activity”	C4B	cleavage
MASP1	“up-regulates activity”	C4A	cleavage

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 32 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Initial triggering of complement	7	145.1×	3e-12

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	14
Likely pathogenic	10
Uncertain significance	181
Likely benign	90
Benign	50

Top pathogenic / likely-pathogenic (24)

Variant ID	HGVS	Classification
1184909	NM_139125.4(MASP1):c.686del (p.Glu229fs)	Pathogenic
2299768	NM_139125.4(MASP1):c.1039del (p.Ile347fs)	Pathogenic
285005	NM_139125.4(MASP1):c.1779G>A (p.Trp593Ter)	Pathogenic
30074	NM_139125.4(MASP1):c.1489C>T (p.His497Tyr)	Pathogenic
30075	NM_139125.4(MASP1):c.1888T>C (p.Cys630Arg)	Pathogenic
30076	NM_139125.4(MASP1):c.1997G>A (p.Gly666Glu)	Pathogenic
30077	NM_139125.4(MASP1):c.2059G>A (p.Gly687Arg)	Pathogenic
30078	NM_139125.4(MASP1):c.870G>A (p.Trp290Ter)	Pathogenic
4804007	NM_139125.4(MASP1):c.1009A>T (p.Lys337Ter)	Pathogenic
546181	NM_139125.4(MASP1):c.238-2A>T	Pathogenic
572584	NM_139125.4(MASP1):c.812dup (p.Ser272fs)	Pathogenic
650705	NC_000003.12:g.(?187235664)(187256880_?)del	Pathogenic
807629	NM_139125.4(MASP1):c.518del (p.Ile173fs)	Pathogenic
981738	NM_139125.4(MASP1):c.913C>T (p.Gln305Ter)	Pathogenic
1723297	NM_001879.6(MASP1):c.1498del (p.Asp500fs)	Likely pathogenic
3337269	NM_139125.4(MASP1):c.1987G>T (p.Asp663Tyr)	Likely pathogenic
3346864	NM_139125.4(MASP1):c.273T>A (p.Cys91Ter)	Likely pathogenic
4277918	NM_139125.4(MASP1):c.1889G>T (p.Cys630Phe)	Likely pathogenic
4291886	NM_139125.4(MASP1):c.2059G>C (p.Gly687Arg)	Likely pathogenic
449778	NM_139125.4(MASP1):c.1591dup (p.Ala531fs)	Likely pathogenic
636358	NM_001879.6(MASP1):c.2074C>T (p.Gln692Ter)	Likely pathogenic
931653	NM_001879.6(MASP1):c.1809+1G>A	Likely pathogenic
931999	NM_139125.4(MASP1):c.992_993del (p.Thr331fs)	Likely pathogenic
932000	NM_139125.4(MASP1):c.1492dup (p.Val498fs)	Likely pathogenic

SpliceAI

2938 predictions. Top by Δscore:

Variant	Effect	Δscore
3:187220258:CCCC:C	acceptor_gain	1.0000
3:187220259:CCC:C	acceptor_gain	1.0000
3:187220259:CCCC:C	acceptor_gain	1.0000
3:187220260:CC:C	acceptor_gain	1.0000
3:187220260:CCC:C	acceptor_gain	1.0000
3:187220261:CC:C	acceptor_gain	1.0000
3:187220263:T:G	acceptor_loss	1.0000
3:187221037:T:TA	donor_gain	1.0000
3:187225322:ACCTT:A	donor_gain	1.0000
3:187225323:CCTTC:C	donor_gain	1.0000
3:187225326:T:A	donor_gain	1.0000
3:187225505:CTTGC:C	acceptor_gain	1.0000
3:187225506:TTGC:T	acceptor_gain	1.0000
3:187225510:C:CC	acceptor_gain	1.0000
3:187225511:T:C	acceptor_loss	1.0000
3:187226401:A:AC	donor_gain	1.0000
3:187226402:C:CC	donor_gain	1.0000
3:187226405:AC:A	donor_gain	1.0000
3:187226406:CC:C	donor_gain	1.0000
3:187226521:C:CC	acceptor_gain	1.0000
3:187226521:CTGG:C	acceptor_loss	1.0000
3:187226522:T:A	acceptor_loss	1.0000
3:187229905:C:CT	acceptor_gain	1.0000
3:187229905:C:T	acceptor_gain	1.0000
3:187229906:A:T	acceptor_gain	1.0000
3:187243478:GCTTA:G	donor_loss	1.0000
3:187243479:CTTA:C	donor_loss	1.0000
3:187243480:TTACC:T	donor_loss	1.0000
3:187243481:TACCT:T	donor_loss	1.0000
3:187243482:ACCT:A	donor_loss	1.0000

AlphaMissense

4800 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:187253192:A:G	W290R	0.999
3:187253192:A:T	W290R	0.999
3:187256811:G:C	S199R	0.999
3:187256811:G:T	S199R	0.999
3:187256813:T:G	S199R	0.999
3:187260745:G:C	C181W	0.999
3:187260746:C:T	C181Y	0.999
3:187260747:A:G	C181R	0.999
3:187260784:G:C	C168W	0.999
3:187260785:C:T	C168Y	0.999
3:187260786:A:G	C168R	0.999
3:187260790:G:C	C166W	0.999
3:187260746:C:G	C181S	0.998
3:187260747:A:T	C181S	0.998
3:187260785:C:A	C168F	0.998
3:187260785:C:G	C168S	0.998
3:187260786:A:T	C168S	0.998
3:187260791:C:G	C166S	0.998
3:187260791:C:T	C166Y	0.998
3:187260792:A:G	C166R	0.998
3:187260792:A:T	C166S	0.998
3:187260817:G:C	C157W	0.998
3:187260818:C:G	C157S	0.998
3:187260819:A:T	C157S	0.998
3:187260830:C:T	C153Y	0.998
3:187260831:A:G	C153R	0.998
3:187260860:C:G	C143S	0.998
3:187260861:A:G	C143R	0.998
3:187260861:A:T	C143S	0.998
3:187262560:G:T	A133D	0.998

dbSNP variants (sampled 300 via entrez): RS1000113558 (3:187259562 T>C,G), RS1000147994 (3:187221668 C>G), RS1000157975 (3:187255434 A>G), RS1000209364 (3:187238071 C>A), RS1000235604 (3:187236545 G>A), RS1000243018 (3:187279108 G>A,C), RS1000255724 (3:187273080 G>A,C), RS1000278212 (3:187282893 C>T), RS1000300546 (3:187230840 C>A,T), RS1000335577 (3:187270950 G>A), RS1000349580 (3:187232544 T>C), RS1000357163 (3:187284938 A>G), RS1000395431 (3:187242638 T>C), RS1000407995 (3:187238305 G>T), RS1000434805 (3:187221922 T>C)

Disease associations

OMIM: gene MIM:600521 | disease phenotypes: MIM:257920

GenCC curated gene-disease

Disease	Classification	Inheritance
3MC syndrome 1	Definitive	Autosomal recessive
3MC syndrome	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
3MC syndrome 1	Definitive	AR

Mondo (4): 3MC syndrome 1 (MONDO:0009770), hypertrophic cardiomyopathy (MONDO:0005045), microcephaly (MONDO:0001149), 3MC syndrome (MONDO:0017398)

Orphanet (3): 3MC syndrome (Orphanet:293843), Rare hypertrophic cardiomyopathy (Orphanet:217569), Michels syndrome (Orphanet:2506)

HPO phenotypes

61 total (30 of 61 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000126	Hydronephrosis
HP:0000175	Cleft palate
HP:0000202	Orofacial cleft
HP:0000204	Cleft upper lip
HP:0000252	Microcephaly
HP:0000260	Wide anterior fontanel
HP:0000316	Hypertelorism
HP:0000365	Hearing impairment
HP:0000369	Low-set ears
HP:0000377	Abnormal pinna morphology
HP:0000405	Conductive hearing impairment
HP:0000494	Downslanted palpebral fissures
HP:0000496	Abnormality of eye movement
HP:0000501	Glaucoma
HP:0000506	Telecanthus
HP:0000508	Ptosis
HP:0000524	Conjunctival telangiectasia
HP:0000537	Epicanthus inversus
HP:0000581	Blepharophimosis
HP:0000593	Abnormal anterior chamber morphology
HP:0000664	Synophrys
HP:0000678	Dental crowding
HP:0000960	Sacral dimple
HP:0001249	Intellectual disability
HP:0001256	Mild intellectual disability
HP:0001363	Craniosynostosis
HP:0001510	Growth delay
HP:0001537	Umbilical hernia
HP:0001539	Omphalocele

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002337_106	Amyotrophic lateral sclerosis (sporadic)	2.000000e-07
GCST006484_6	Type 2 diabetes	8.000000e-07
GCST006585_2273	Blood protein levels	6.000000e-43
GCST007627_2	Impulsivity (attentional)	1.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006946	behavioural disinhibition measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D002312	Cardiomyopathy, Hypertrophic	C14.280.238.100; C14.280.484.048.750.070.160
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4295768 (SINGLE PROTEIN)

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

ChEMBL bioactivities

5 potent at pChembl≥5 of 5 total, top 5 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.15	Ki	7	nM	CHEMBL4250967
7.40	IC50	40	nM	CHEMBL4240381
7.38	IC50	42	nM	CHEMBL4250967
7.19	Ki	65	nM	CHEMBL4240381
6.66	IC50	220	nM	CHEMBL4246684

PubChem BioAssay actives

5 with measured affinity, of 5 total; 3 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
(2S)-5-amino-2-[[(2S)-2-[[(2R)-2-[[(2S)-2-[[(2S)-6-amino-2-[[(2S)-2-[[(2S,3R)-2-[[(2R)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-6-amino-2-[[2-[[(2S)-2-[[(2S)-2-[[2-[[(2R)-2-[[(2S)-2-[[(2R)-2-[[(2S,3R)-2-[[(2S)-4-amino-2-[[(2R)-2-[[(2S)-6-amino-2-[[(2S)-2-[[(2S)-6-amino-2-[[(2S)-2-[[(2S,3R)-2-[[(2S,3R)-2-[[2-[[(2S)-1-[(2S)-2-[[(2R)-2-[[(2S,3R)-2-[[(2S)-2-amino-3-methylbutanoyl]amino]-3-hydroxybutanoyl]amino]-3-sulfanylpropanoyl]amino]-4-carboxybutanoyl]pyrrolidine-2-carbonyl]amino]acetyl]amino]-3-hydroxybutanoyl]amino]-3-hydroxybutanoyl]amino]-3-phenylpropanoyl]amino]hexanoyl]amino]-3-carboxypropanoyl]amino]hexanoyl]amino]-3-sulfanylpropanoyl]amino]-4-oxobutanoyl]amino]-3-hydroxybutanoyl]amino]-3-sulfanylpropanoyl]amino]-5-carbamimidamidopentanoyl]amino]-3-sulfanylpropanoyl]amino]acetyl]amino]-3-hydroxypropanoyl]amino]-3-carboxypropanoyl]amino]acetyl]amino]hexanoyl]amino]-3-hydroxypropanoyl]amino]propanoyl]amino]-3-phenylpropanoyl]amino]-3-sulfanylpropanoyl]amino]-3-hydroxybutanoyl]amino]-5-carbamimidamidopentanoyl]amino]hexanoyl]amino]-4-methylpentanoyl]amino]-3-sulfanylpropanoyl]amino]-3-(4-hydroxyphenyl)propanoyl]amino]-5-oxopentanoic acid	1393229: Inhibition of recombinant CP1-CCP2-SP fragment of MASP-1 (unknown origin)	ki	0.0070	uM
(2S)-2-[[(2S)-1-[(2S,3S)-2-[[(2R)-2-[[(2S,3S)-2-[[(2S)-1-[(2S)-1-[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2R)-2-[[(2S,3S)-2-[(2-aminoacetyl)amino]-3-methylpentanoyl]amino]-3-sulfanylpropanoyl]amino]-3-hydroxypropanoyl]amino]-5-(diaminomethylideneamino)pentanoyl]amino]-3-hydroxypropanoyl]amino]-4-methylpentanoyl]pyrrolidine-2-carbonyl]pyrrolidine-2-carbonyl]amino]-3-methylpentanoyl]amino]-3-sulfanylpropanoyl]amino]-3-methylpentanoyl]pyrrolidine-2-carbonyl]amino]butanedioic acid	1393228: Inhibition of MASP-1-mediated C3 deposition in human serum after 30 mins by ELISA	ic50	0.0400	uM
(2S)-2-[[(2S)-1-[(2S,3S)-2-[[(2R)-2-[[(2S)-2-[[(2S)-1-[(2S)-1-[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2R)-2-[[(2S)-2-[(2-aminoacetyl)amino]-3-(4-hydroxyphenyl)propanoyl]amino]-3-sulfanylpropanoyl]amino]-3-hydroxypropanoyl]amino]-5-(diaminomethylideneamino)pentanoyl]amino]-3-hydroxypropanoyl]amino]-3-(4-hydroxyphenyl)propanoyl]pyrrolidine-2-carbonyl]pyrrolidine-2-carbonyl]amino]-3-methylbutanoyl]amino]-3-sulfanylpropanoyl]amino]-3-methylpentanoyl]pyrrolidine-2-carbonyl]amino]butanedioic acid	1393228: Inhibition of MASP-1-mediated C3 deposition in human serum after 30 mins by ELISA	ic50	0.2200	uM

CTD chemical–gene interactions

33 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	3
sodium arsenite	decreases expression, increases expression	2
chromium hexavalent ion	increases expression, increases abundance	2
Acetaminophen	decreases expression	2
Valproic Acid	decreases expression, decreases methylation, affects expression	2
Aflatoxin B1	decreases expression, decreases methylation	2
OTX015	decreases expression	1
terbufos	increases methylation	1
methylparaben	increases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
3,4,5,3’,4’-pentachlorobiphenyl	decreases expression	1
zinc chromate	increases abundance, increases expression	1
manganese chloride	decreases methylation	1
aflatoxin B2	increases methylation	1
butylparaben	increases expression	1
licochalcone B	decreases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Temozolomide	affects response to substance	1
Decitabine	decreases expression	1
Amiodarone	increases expression	1
Carmustine	affects response to substance	1
Doxorubicin	increases expression	1
Fonofos	increases methylation	1
Lead	increases expression	1
Niclosamide	increases expression	1
Parathion	increases methylation	1
Perfume	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Triclosan	decreases expression	1
Zinc	increases expression	1

ChEMBL screening assays

4 unique, capped per target: 4 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4229695	Binding	Inhibition of MASP-1 (unknown origin) using Z-L-LysSBzl hydrochloride as substrate preincubated for 1 hr followed by substrate addition	Chemical Approaches to Modulating Complement-Mediated Diseases. — J Med Chem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00879060	PHASE4	COMPLETED	Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy
NCT01721967	PHASE4	COMPLETED	Ranolazine for the Treatment of Chest Pain in HCM Patients
NCT02948998	PHASE4	UNKNOWN	Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy
NCT03249272	PHASE4	TERMINATED	Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve
NCT04133532	PHASE4	COMPLETED	Effect of Metoprolol in Post Alcohol Septal Ablation Patients With Hypertrophic Cardiomyopathy
NCT06401343	PHASE4	RECRUITING	Use of SGLT2i in noHCM With HFpEF
NCT07103655	PHASE4	NOT_YET_RECRUITING	The Therapeutic Value of Mavacamten in Hypertrophic Cardiomyopathy With Mid-to-Apical Left Ventricular Obstruction
NCT07600177	PHASE4	RECRUITING	Mavacamten to Aficamten Transition in Patients With Obstructive Hypertrophic Cardiomyopathy
NCT00317967	PHASE3	COMPLETED	Study to Determine if Atorvastatin Reduces Size and Stiffness of Muscle in the Left Ventricle of the Heart
NCT00698074	PHASE3	UNKNOWN	Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy
NCT00821353	PHASE3	COMPLETED	Antiarrhythmic Therapy Versus Catheter Ablation for Atrial Fibrillation in Hypertrophic Cardiomyopathy
NCT02431221	PHASE3	WITHDRAWN	Efficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart Failure
NCT03470545	PHASE3	COMPLETED	Clinical Study to Evaluate Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy
NCT05174416	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Mavacamten in Chinese Adults With Symptomatic Obstructive HCM
NCT05182658	PHASE3	ACTIVE_NOT_RECRUITING	Empagliflozin in Hypertrophic Cardiomyopathy
NCT05186818	PHASE3	COMPLETED	Phase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Placebo in Adults With Symptomatic oHCM
NCT05767346	PHASE3	COMPLETED	Phase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Metoprolol Succinate in Adults With Symptomatic oHCM
NCT06116968	PHASE3	COMPLETED	An Open-Label Study of Aficamten for Chinese Patients With Symptomatic oHCM
NCT06873828	PHASE3	NOT_YET_RECRUITING	Evaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter MonitoringEvaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter Monitoring
NCT07021976	PHASE3	RECRUITING	A Phase III Trial of HRS-1893 in Patients With Obstructive Hypertrophic Cardiomyopathy
NCT07023341	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Learn More About How Well Aficamten Works in Japanese Participants With Symptomatic Obstructive Hypertrophic Cardiomyopathy
NCT07202897	PHASE3	NOT_YET_RECRUITING	LA-HCM Study : Rivaroxaban for Antithrombotic Prevention in Hypertrophic Cardiomyopathy Patients With Abnormal Left Atrial Strain.
NCT00001631	PHASE2	COMPLETED	Study of Blood Flow in Heart Muscle
NCT00001894	PHASE2	COMPLETED	A Comparison of Two Treatments: Pacemaker and Percutaneous Transluminal Septal Ablation for Hypertrophic Cardiomyopathy
NCT00001960	PHASE2	COMPLETED	Studying the Effectiveness of Pacemaker Therapy in Children Who Have Thickened Heart Muscle
NCT00011076	PHASE2	COMPLETED	Pirfenidone to Treat Hypertrophic Cardiomyopathy
NCT00035386	PHASE2	COMPLETED	Alcohol Septal Ablation in Obstructive Hypertrophic Cardiomyopathy: A Pilot Study
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