MASP1 (MBL associated serine protease 1)

2010-01-01  

Identity

HGNC
LOCATION
3q27.3
LOCUSID
ALIAS
3MC1,CRARF,CRARF1,MAP-1,MAP1,MASP,MASP-3,MASP3,MAp44,PRSS5,RaRF
FUSION GENES

Other Information

Locus ID:

NCBI: 5648
MIM: 600521
HGNC: 6901
Ensembl: ENSG00000127241

Variants:

dbSNP: 5648
ClinVar: 5648
TCGA: ENSG00000127241
COSMIC: MASP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000127241ENST00000169293P48740
ENSG00000127241ENST00000296280P48740
ENSG00000127241ENST00000337774P48740
ENSG00000127241ENST00000392470F8W876
ENSG00000127241ENST00000392472P48740
ENSG00000127241ENST00000392475C9JMA2
ENSG00000127241ENST00000425937C9JLU5
ENSG00000127241ENST00000439271C9J1C7

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Complement and coagulation cascadesKEGGhsa04610
Staphylococcus aureus infectionKEGGko05150
Staphylococcus aureus infectionKEGGhsa05150
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Complement cascadeREACTOMER-HSA-166658
Initial triggering of complementREACTOMER-HSA-166663
Creation of C4 and C2 activatorsREACTOMER-HSA-166786
Lectin pathway of complement activationREACTOMER-HSA-166662
Ficolins bind to repetitive carbohydrate structures on the target cell surfaceREACTOMER-HSA-2855086
Vesicle-mediated transportREACTOMER-HSA-5653656
Binding and Uptake of Ligands by Scavenger ReceptorsREACTOMER-HSA-2173782
Scavenging by Class A ReceptorsREACTOMER-HSA-3000480

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
212583432011Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.72
188422942008Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study.65
226915022012Revised mechanism of complement lectin-pathway activation revealing the role of serine protease MASP-1 as the exclusive activator of MASP-2.54
199176862009MAp44, a human protein associated with pattern recognition molecules of the complement system and regulating the lectin pathway of complement activation.50
199176862009MAp44, a human protein associated with pattern recognition molecules of the complement system and regulating the lectin pathway of complement activation.50
123703772002Enhancement of complement activation and opsonophagocytosis by complexes of mannose-binding lectin with mannose-binding lectin-associated serine protease after binding to Staphylococcus aureus.49
229660852012Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function.49
200539962010A novel mannose-binding lectin/ficolin-associated protein is highly expressed in heart and skeletal muscle tissues and inhibits complement activation.47
196670882009Complement protease MASP-1 activates human endothelial cells: PAR4 activation is a link between complement and endothelial function.46
210351062010MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.43

Citation

Dessen P

MASP1 (MBL associated serine protease 1)

Atlas Genet Cytogenet Oncol Haematol. 2010-01-01

Online version: http://atlasgeneticsoncology.org/gene/51261/masp1