MASP1 - MBL associated serine protease 1 Gene

Homo sapiens

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

Gene ID: 5648 | Gene type: protein coding

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

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

Recombinant MASP1 Proteins

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08159	MASP1 Human Pre-designed siRNA Set A		/	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
Macaca fascicularis	MASP1	NCBI
Others	MASP1	NCBI

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