MASP1
Mannan-binding lectin serine protease 1
Also known as: CRARF, MAP-1, Map44, MASP, MASP-3, MASP1_HUMAN, PRSS5
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P48740
- Gene
- MASP1
- Ensembl
- ENSG00000127241
- Chromosome
- 3
- Canonical length
- 699 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins
- Subcellular location
- Nucleoplasm,Cytosol
- Secretome location
- Secreted to blood
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
699 residues, UniProt reviewed canonical sequence.
>P48740|MASP1
1 MRWLLLYYAL CFSLSKASAH TVELNNMFGQ IQSPGYPDSY PSDSEVTWNI TVPDGFRIKL
61 YFMHFNLESS YLCEYDYVKV ETEDQVLATF CGRETTDTEQ TPGQEVVLSP GSFMSITFRS
121 DFSNEERFTG FDAHYMAVDV DECKEREDEE LSCDHYCHNY IGGYYCSCRF GYILHTDNRT
181 CRVECSDNLF TQRTGVITSP DFPNPYPKSS ECLYTIELEE GFMVNLQFED IFDIEDHPEV
241 PCPYDYIKIK VGPKVLGPFC GEKAPEPIST QSHSVLILFH SDNSGENRGW RLSYRAAGNE
301 CPELQPPVHG KIEPSQAKYF FKDQVLVSCD TGYKVLKDNV EMDTFQIECL KDGTWSNKIP
361 TCKIVDCRAP GELEHGLITF STRNNLTTYK SEIKYSCQEP YYKMLNNNTG IYTCSAQGVW
421 MNKVLGRSLP TCLPVCGLPK FSRKLMARIF NGRPAQKGTT PWIAMLSHLN GQPFCGGSLL
481 GSSWIVTAAH CLHQSLDPED PTLRDSDLLS PSDFKIILGK HWRLRSDENE QHLGVKHTTL
541 HPQYDPNTFE NDVALVELLE SPVLNAFVMP ICLPEGPQQE GAMVIVSGWG KQFLQRFPET
601 LMEIEIPIVD HSTCQKAYAP LKKKVTRDMI CAGEKEGGKD ACAGDSGGPM VTLNRERGQW
661 YLVGTVSWGD DCGKKDRYGV YSYIHHNKDW IQRVTGVRNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MASP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.28
- Highest tissue expression
- 172 nTPM
Expression across tissuesHPA
Tissue
- liver: 172 nTPM
- heart muscle: 109 nTPM
- cervix: 101 nTPM
- endometrium: 81 nTPM
- vagina: 60 nTPM
- colon: 55 nTPM
Single-cell type
- hepatocytes: 109 nCPM
- hepatic stellate cells: 90 nCPM
- decidual stromal cells: 83 nCPM
- astrocytes: 62 nCPM
- cardiomyocytes: 61 nCPM
- fibro-adipogenic progenitors: 53 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- white matter: 61 nTPM
- hypothalamus: 53 nTPM
- spinal cord: 43 nTPM
- medulla oblongata: 37 nTPM
- midbrain: 30 nTPM
- thalamus: 26 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MASP1.
Disease | AllUniProt
Conditions MASP1 is implicated in, by any mechanism.
- 3MC syndrome 1 (3MC1) MIM:257920
Disease | GeneticClinVar
26 pathogenic / likely-pathogenic of 406 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- 3MC syndrome 1
- Inborn genetic diseases
- MASP1-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.98
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.16
- DepMap mean gene effect
- 0.08
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- complement activation, alternative pathway
- complement activation, lectin pathway
- negative regulation of complement activation
- protein maturation
- zymogen activation
Molecular functions
- calcium ion binding
- calcium-dependent protein binding
- identical protein binding
- peptidase activity
- protein homodimerization activity
- serine-type endopeptidase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Sushi/SCR/CCP domain
- EGF-like domain
- CUB domain
- Serine proteases, trypsin domain
- Peptidase S1A, chymotrypsin family
- EGF-like calcium-binding domain
- Peptidase S1, PA clan
- EGF-like calcium-binding, conserved site
- Serine proteases, trypsin family, histidine active site
- Peptidase S1A, complement C1r/C1S/mannan-binding
- Serine proteases, trypsin family, serine active site
- Spermadhesin, CUB domain superfamily
- Sushi/SCR/CCP superfamily
- Sushi repeat (SCR repeat)
- Trypsin
- CUB domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MASP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MASP1 as an antibody target. Whether an autoantibody or antibody against MASP1 could matter depends on whether native MASP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MASP1 is annotated at the cell surface, where native MASP1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label MASP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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