MASP1 - MBL associated serine protease 1 Gene

Also Known as 3MC1; MAP1; MASP; RaRF; CRARF; MAP-1; MASP3; MAp44; PRSS5; CRARF1; MASP-3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5648

About MASP1

Cytogenetic location: 3q27.3 Genomic coordinates (GRCh38): 3:187,217,282-187,291,737 (from NCBI)

This gene has 15 transcripts (splice variants), 208 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in liver (RPKM 20.5), endometrium (RPKM 13.2) and 10 other tissues.

Summary

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.[provided by RefSeq, Apr 2010]

MASP1 Products (3)

mRNA	Protein	Name
NM_001031849.3	NP_001027019.1	mannan-binding lectin serine protease 1 isoform 3 precursor
NM_001879.6	NP_001870.3	mannan-binding lectin serine protease 1 isoform 1 precursor
NM_139125.4	NP_624302.1	mannan-binding lectin serine protease 1 isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calcium ion binding	IDA IDA: Inferred from direct assay	18596036	GOA
enables calcium-dependent protein binding	IPI IPI: Inferred from physical interaction	12421953	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	22854970	GOA
enables peptidase activity	IDA IDA: Inferred from direct assay	10946292	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10946292	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	18596036	GOA
enables serine-type endopeptidase activity	IDA IDA: Inferred from direct assay	11527969	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in complement activation, lectin pathway	IMP IMP: Inferred from mutant phenotype	17182967	GOA
involved in negative regulation of complement activation	IDA IDA: Inferred from direct assay	11485744	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular space	IDA IDA: Inferred from direct assay	11485744	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MASP1 Protein Structure

CUB

EGF_CA

CUB

Sushi

Trypsin

0
200
400
600
699 a.a.

Protein Preferred Names	Protein Names
mannan-binding lectin serine protease 1	C4/C2 activating component of Ra-reactive factor

MASP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MASP1	P48740	MBL2	Homo sapiens	P11226	Comigration in SDS	22607836
Intra	MASP1	P48740	MBL2	Homo sapiens	P11226	ELISA	20956340
Intra	MASP1	P48740	MBL2	Homo sapiens	P11226	ELISA	22607836

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant MASP1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7444	MASP1 Protein, Human (HEK293, His)	P48740-2 (H20-R728)	≥ 95%, as determined by reducing SDS-PAGE.

MASP1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810912	MASP1 HC Antibody	WB, ICC/IF	Human, Mouse, Rat
HY-P89547	MASP-3 Antibody (YA8891)	WB	human

Related Diseases

Diseases	Alias
3mc Syndrome 1	Oculopalatoskeletal Syndrome 3MC1 Craniosynostosis With Lid Anomalies Michels Syndrome, Formerly Michels Syndrome 3mc Syndrome, Type 1
3mc Syndrome	Craniofacial-Ulnar-Renal Syndrome Malpuech Facial Clefting Syndrome Oculopalatoskeletal Syndrome Carnevale Syndrome Michels Syndrome Malpuech-Michels-Mingarelli-Carnevale Syndrome Carnevale-Krajewska-Fischetto Syndrome Craniosynostosis With Lid Anomalies Malpuech Syndrome Mingarelli Syndrome Oculo-Skeletal-Abdominal Syndrome Osa Syndrome Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia Ptosis-Strabismus-Rectus Abdominis Diastasis
Cleft Lip	Cheiloschisis Labium Leporinum Cleft Lip, Unilateral, Complete Complete Unilateral Cleft Lip Hare Lip Congenital Fissure Of Lip Isolated Cleft Lip Cleft Lip Without Cleft Palate Cleft Lip Without Cleft Palate, Unilateral Isolated Cleft Lip, Unilateral Cleft Lip Without Cleft Palate, Bilateral Isolated Cleft Lip, Bilateral
Iga Glomerulonephritis	Iga Nephropathy Glomerulonephritis, Iga Berger'S Iga Or Igg Nephropathy Focal Glomerulonephritis Primary Iga Nephropathy Segmental Glomerulonephritis Berger Disease Berger'S Disease Igan Nephritis, Iga Type Nephropathy Iga Glomerulonephritis Focal Iga Nephropathy, Susceptibility To Primary Immunoglobulin A Nephropathy
Blepharophimosis
Klebsiella Pneumonia	Pneumonia Due To Klebsiella Pneumoniae Klebsiella Infections Doid:13272 Klebsiella Lobar Pneumonia
Van Maldergem Syndrome 1	Cerebrofacioarticular Syndrome VMLDS1 Van Maldergem Syndrome Cerebro-Facio-Articular Syndrome Van Maldergem Wetzburger Verloes Syndrome
Rapp-Hodgkin Syndrome	RHS Anhidrotic Ectodermal Dysplasia With Cleft Lip/Palate Ectodermal Dysplasia, Rapp-Hodgkin Type Rapp-Hodgkin Ectodermal Dysplasia Syndrome Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/Palate Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type Edrh Rapp-Hodgkin Ectodermal Dysplasia Orofacial Cleft 8
Learning Disability	Learning Disabilities Learning Disorders Academic Skill Disorder Learning Disorder
3mc Syndrome 2	3MC2 Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia Oculo-Skeletal-Abdominal Syndrome Osa Syndrome Carnevale Syndrome Carnevale Syndrome, Formerly Carnevale Krajewska Fischetto Syndrome 3mc Syndrome, Type 2
Chagas Disease	American Trypanosomiasis Chagas' Disease Chagas' Disease With Digestive System Involvement Chagas' Disease With Nervous System Involvement Chagas' Disease With Other Organ Involvement Infection Due To Trypanosoma Cruzi South American Trypanosomiasis Chronic Chagas Disease With Digestive System Involvement
Glomerulonephritis	Bright'S Disease
Acrofrontofacionasal Dysostosis	Acrofrontofacionasal Dysostosis Syndrome Richieri-Costa-Colletto Syndrome Affn Dysostosis Affn Dysostosis 1 Acro Fronto Facio Nasal Dysostosis Cleft Lip/Palate With Frontonasal Dysostosis And Postaxial Polysyndactyly Polysyndactyly, Postaxial, Frontonasal Dysostosis And Cleft Lip/Palate
Megaesophagus	Esophageal Achalasia
Complement Component 3 Deficiency	C3 Deficiency
Craniosynostosis	Premature Closure Of Cranial Sutures Craniostenosis Craniosynostosis Syndrome Cso Craniosynostoses Congenital Ossification Of Cranial Sutures Congenital Ossification Of Sutures Of Skull Craniostosis Imperfect Fusion Of Skull Congenital Imperfect Closure Skull Imperfect Closure Skull Premature Closure Cranium Sutures Deficiency Of Craniofacial Axis
Hereditary Angioedema	Hereditary Angioneurotic Edema Hereditary Angioedema Type 1 Hane Angioedema, Hereditary Hae Angioedemas, Hereditary Deficiency Of C1 Esterase Inhibitor C1 Esterase Inhibitor Deficiency C1 Inhibitor Deficiency Familial Angioneurotic Edema Hereditary Bradykinine-Induced Angioedema Hereditary Non Histamine-Induced Angioedema Hae 1 Hae-I Hereditary Angioneurotic Edema Type 1 Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor Hereditary Angioedema Types I And Ii Hereditary Angioneurotic Oedema Familial Angioedema Hae - [Hereditary Angioneurotic Oedema] Bannister Disease, Hereditary Quincke Disease Or Oedema Hereditary Quincke Oedema
Radioulnar Synostosis	Radio-Ulnar Synostosis Type 1
Hemolytic Uremic Syndrome, Atypical 1	Atypical Hemolytic-Uremic Syndrome Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 Atypical Hemolytic Uremic Syndrome Hemolytic Uremic Syndrome, Atypical, Susceptibility To Ahus AHUS1 Hemolytic-Uremic Syndrome Ahus 1 Ahus, Susceptibility To, 1 Hemolytic Uremic Syndrome, Atypical Non-Shiga-Like Toxin-Associated Hus Non-Stx-Hus Nonenteropathic Hus Atypical Hus Shiga Toxin-Associated Hemolytic Uremic Syndrome D+ Hus Ehec-Hus Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli Hemolytic Uremic Syndrome With Diarrhea Stec-Hus Shiga-Like Toxin-Associated Hus Stx-Hus Typical Hus Typical Hemolytic Uremic Syndrome Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies Atypical Hus With Anti-Factor H Antibodies Ahus With Anti-Factor H Antibodies Ahus With Neutralizing Autoantibodies Against Factor H Hemolytic Uremic Syndrome Atypical 1 Atypical Hemolytic Uremic Syndrome With H Factor Anomaly D Hus Hemolytic-Uremic Syndrome Without Diarrhea Hemolytic-Uremic Syndrome, Atypical, Type 1 Hemolytic Uremic Syndrome, Typical
Cardiomyopathy, Dilated, 1l	Dilated Cardiomyopathy 1l CMD1L Cardiomyopathy, Dilated 1l Cardiomyopathy, Dilated, Type 1l
Babesiosis	Babesiasis Infection By Babesia Piroplasmosis Human Babesiosis Babesia Parasite Infection Piroplasma Infection
Hypertelorism	Eyes Wide Apart Eyes Widely Set Hypertelorism Of Orbit Ocular Hypertelorism Orbital Separation Excessive

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P11596	NOTA-Asp2-αvβ6L		/	Unkown
HY-RS08159	MASP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17421	Masp1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23876	Masp1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MASP1	MGD	MGI:88492
Bos taurus	MASP1	VGNC	VGNC:31255
Macaca mulatta	MASP1	VGNC	VGNC:74662
Canis familiaris	MASP1	VGNC	VGNC:43030
Rattus norvegicus	MASP1	RGD	RGD:620213
Felis catus	MASP1	VGNC	VGNC:68190
Others	MASP1	NCBI