Entity Details

Primary name MASP1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP48740
EntryNameMASP1_HUMAN
FullNameMannan-binding lectin serine protease 1
TaxID9606
Evidenceevidence at protein level
Length699
SequenceStatuscomplete
DateCreated1996-02-01
DateModified2021-06-02

Ontological Relatives

GenesMASP1

GO terms

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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

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR000436 Sushi/SCR/CCP domainDomainDomain
IPR000742 EGF-like domainDomainDomain
IPR000859 CUB domainDomainDomain
IPR001254 Serine proteases, trypsin domainDomainDomain
IPR001314 Peptidase S1A, chymotrypsin familyFamilyFamily
IPR001881 EGF-like calcium-binding domainDomainDomain
IPR009003 Peptidase S1, PA clanFamilyHomologous superfamily
IPR018097 EGF-like calcium-binding, conserved siteSiteConserved site
IPR018114 Serine proteases, trypsin family, histidine active siteSiteActive site
IPR033116 Serine proteases, trypsin family, serine active siteSiteActive site
IPR035914 Spermadhesin, CUB domain superfamilyFamilyHomologous superfamily
IPR035976 Sushi/SCR/CCP superfamilyFamilyHomologous superfamily
IPR043504 Peptidase S1, PA clan, chymotrypsin-like foldFamilyHomologous superfamily

Diseases

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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.