InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MASP1

Summary

InnateDB Protein

IDBP-69261.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MASP1

Protein Name

mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)

Synonyms

3MC1; CRARF; CRARF1; MAP1; MAp44; MASP; MASP3; PRSS5; RaRF;

Species

Homo sapiens

Ensembl Protein

ENSP00000296280

InnateDB Gene

IDBG-69257 (MASP1)

Protein Structure

UniProt Annotation

Function

Functions in the lectin pathway of complement, which performs a key role in innate immunity by recognizing pathogens through patterns of sugar moieties and neutralizing them. The lectin pathway is triggered upon binding of mannan-binding lectin (MBL) and ficolins to sugar moieties which leads to activation of the associated proteases MASP1 and MASP2. Functions as an endopeptidase and may activate MASP2 or C2 or directly activate C3 the key component of complement reaction. Isoform 2 may have an inhibitory effect on the activation of the lectin pathway of complement or may cleave IGFBP5. {ECO:0000269PubMed:11485744}.

Subcellular Localization

Secreted {ECO:0000269PubMed:11485744}.

Disease Associations

3MC syndrome 1 (3MC1) [MIM:257920]: A disorder characterized by facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate, craniosynostosis, learning disability and genital, limb and vesicorenal anomalies. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes. {ECO:0000269PubMed:21258343}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Protein of the plasma which is primarily expressed by liver. {ECO:0000269PubMed:11485744, ECO:0000269PubMed:8018603, ECO:0000269PubMed:8240317, ECO:0000269PubMed:9367419}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 31 experimentally validated interaction(s) in this database.

Experimentally validated
Total	31 [view]
Protein-Protein	31 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004252	serine-type endopeptidase activity
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0008233	peptidase activity
GO:0042803	protein homodimerization activity
GO:0048306	calcium-dependent protein binding

Biological Process

GO:0001867	complement activation, lectin pathway
GO:0006508	proteolysis
GO:0006956	complement activation
GO:0045087	innate immune response (InnateDB)
GO:0045916	negative regulation of complement activation

Cellular Component

GO:0005576	extracellular region
GO:0005615	extracellular space

Protein Structure and Domains

PDB ID

InterPro

IPR000436 Sushi/SCR/CCP
IPR000859 CUB domain
IPR001254 Peptidase S1
IPR001314 Peptidase S1A, chymotrypsin-type
IPR001881 EGF-like calcium-binding domain
IPR009003 Trypsin-like cysteine/serine peptidase domain

PFAM

PF00084
PF00431
PF00089
PF07645

PRINTS

PR00722

PIRSF

SMART

SM00032
SM00042
SM00020
SM00179

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt