Entity Details

Primary name MASP1
Entity type gene
Source Source Link

Details

PrimaryID5648
RefseqGeneNG_029440
SymbolMASP1
NameMBL associated serine protease 1
Chromosome3
Location3q27.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-02-15
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsMASP1_HUMAN

GO terms

Show/Hide Table
GOName
GO:0001867 complement activation, lectin pathway
GO:0004252 serine-type endopeptidase activity
GO:0005509 calcium ion binding
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0006898 receptor-mediated endocytosis
GO:0006956 complement activation
GO:0008233 peptidase activity
GO:0042803 protein homodimerization activity
GO:0045916 negative regulation of complement activation
GO:0048306 calcium-dependent protein binding

Diseases

Show/Hide Table
Disease IDSourceNameDescription
257920 OMIM3MC syndrome 1 (3MC1)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.