Masp1 MBL associated serine protease 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Masp1provided by MGI
Official Full Name: MBL associated serine protease 1provided by MGI
Primary source: MGI:MGI:88492
See related: Ensembl:ENSMUSG00000022887 AllianceGenome:MGI:88492
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CCPII; Crarf; Masp1/3
Summary: Enables serine-type endopeptidase activity. Involved in complement activation, lectin pathway. Located in extracellular space. Is expressed in several structures, including alimentary system; brain; genitourinary system; liver; and spleen. Human ortholog(s) of this gene implicated in 3MC syndrome 1. Orthologous to human MASP1 (MBL associated serine protease 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in adrenal adult (RPKM 13.8), liver adult (RPKM 12.9) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 B1; 16 14.23 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (23261778..23340127, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (23451785..23521240, complement)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MASP3 Deficiency in Mice Reduces but Does Not Abrogate Alternative Pathway Complement Activity Due to Intrinsic Profactor D Activity.
Title: MASP3 Deficiency in Mice Reduces but Does Not Abrogate Alternative Pathway Complement Activity Due to Intrinsic Profactor D Activity.
The complex formation of MASP-3 with pattern recognition molecules of the lectin complement pathway retains MASP-3 in the circulation.
Title: The complex formation of MASP-3 with pattern recognition molecules of the lectin complement pathway retains MASP-3 in the circulation.
MASP-3 orchestrates the overall complement reaction through the activation of FD.
Title: Cutting Edge: Role of MASP-3 in the Physiological Activation of Factor D of the Alternative Complement Pathway.
data indicate that MASP-1/3 plays essential roles in the development of lupus-like glomerulonephritis in MRL/lpr mice, most likely via activation of the lectin pathway and/or alternative pathway.
Title: Essential Roles for Mannose-Binding Lectin-Associated Serine Protease-1/3 in the Development of Lupus-Like Glomerulonephritis in MRL/lpr Mice.
It has been shown that key proteins in the lectin arm of this pathway, MASP1, MASP2 and C3, are expressed in the developing cortex and that neuronal migration is impaired in knockout and knockdown mice.
Title: Developmental activities of the complement pathway in migrating neurons.
MBL-KO (Figure 1a) and MASP-1-KO (Figure 1b) mice are poor mobilizers in response to mobilizing agents compared with WT littermates
Title: Novel evidence that the mannan-binding lectin pathway of complement activation plays a pivotal role in triggering mobilization of hematopoietic stem/progenitor cells by activation of both the complement and coagulation cascades.
this study shows that inhibition of MASP-1/3 by gene silencing is sufficient to ameliorate collagen Ab-induced arthritis in mice
Title: Mannan-Binding Lectin-Associated Serine Protease 1/3 Cleavage of Pro-Factor D into Factor D In Vivo and Attenuation of Collagen Antibody-Induced Arthritis through Their Targeted Inhibition by RNA Interference-Mediated Gene Silencing.
MASP-1 plasma levels were higher among patients with type 2 diabetes and diabetic mice
Title: Plasma levels of MASP-1, MASP-3 and MAp44 in patients with type 2 diabetes: influence of glycaemic control, body composition and polymorphisms in the MASP1 gene.
study provides conclusive evidence that an intact complement LP is essential to initiate CAIA, and that MAp44 may be an appropriate treatment for inflammatory arthritis.
Title: Essential role for the lectin pathway in collagen antibody-induced arthritis revealed through use of adenovirus programming complement inhibitor MAp44 expression.
Data indicate that co-deficiency of factor H (FH) and MASP-1/MASP-3 did not ameliorate either the plasma Complement C3 (C3) activation or glomerular C3 accumulation in FH-deficient mice.
Title: C3 dysregulation due to factor H deficiency is mannan-binding lectin-associated serine proteases (MASP)-1 and MASP-3 independent in vivo.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D16492 (e-PCR)
- UniSTS:160540

Masp1 (e-PCR), detects polymorphism
- UniSTS:471083

Masp1 (e-PCR), detects polymorphism
- UniSTS:164692

AW048060 (e-PCR)
- UniSTS:180878

Masp1 (e-PCR), detects polymorphism
- UniSTS:531089

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables calcium-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables peptidase activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables serine-type endopeptidase activity	ISO Inferred from Sequence Orthology more info
enables serine-type peptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in complement activation	IEA Inferred from Electronic Annotation more info
involved_in complement activation, lectin pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in complement activation, lectin pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in complement activation, lectin pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within immune system process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within innate immune response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of complement activation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within proteolysis	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in zymogen activation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: mannan-binding lectin serine protease 1

Names: MASP-1; complement factor MASP-3; complement-activating component of Ra-reactive factor; mannan-binding lectin serine peptidase 1; mannose-binding lectin-associated serine protease 1; mannose-binding protein-associated serine protease; ra-reactive factor serine protease p100; raRF; serine protease 5

NP_001346012.1

EC 3.4.21.-

NP_032581.2

EC 3.4.21.-

XP_006521892.1

EC 3.4.21.-

XP_036015702.1

EC 3.4.21.-

XP_036015703.1

EC 3.4.21.-

XP_036015704.1

EC 3.4.21.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001359083.1 → NP_001346012.1 mannan-binding lectin serine protease 1 isoform 1 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC154571, AC163612

Consensus CDS

CCDS88904.1

Related

ENSMUSP00000155665.2, ENSMUST00000229619.2

Conserved Domains (6) summary

cd00033
Location:306 → 368

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

smart00020
Location:454 → 715

Tryp_SPc; Trypsin-like serine protease

cd00041
Location:33 → 142

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

pfam00431
Location:190 → 299

CUB; CUB domain

pfam00084
Location:372 → 437

Sushi; Sushi repeat (SCR repeat)

pfam14670
Location:158 → 186

FXa_inhibition; Coagulation Factor Xa inhibitory site
NM_008555.3 → NP_032581.2 mannan-binding lectin serine protease 1 isoform 2 precursor

See identical proteins and their annotated locations for NP_032581.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and has multiple coding region differences, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

AC154571, AC163612

Consensus CDS

CCDS37303.1

UniProtKB/Swiss-Prot

A2RRH8, A2RRH9, P98064, Q8CD27, Q8CIR8, Q920S0

Related

ENSMUSP00000087327.6, ENSMUST00000089883.7

Conserved Domains (6) summary

cd00033
Location:306 → 368

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

smart00020
Location:453 → 696

Tryp_SPc; Trypsin-like serine protease

cd00041
Location:33 → 142

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd00190
Location:454 → 699

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

pfam00431
Location:190 → 299

CUB; CUB domain

pfam14670
Location:158 → 186

FXa_inhibition; Coagulation Factor Xa inhibitory site

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000082.7 Reference GRCm39 C57BL/6J

Range

23261778..23340127 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036159811.1 → XP_036015704.1 mannan-binding lectin serine protease 1 isoform X4

Conserved Domains (2) summary

cd00190
Location:87 → 332

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

pfam00084
Location:5 → 70

Sushi; Sushi repeat (SCR repeat)
XM_036159809.1 → XP_036015702.1 mannan-binding lectin serine protease 1 isoform X1

Conserved Domains (6) summary

cd00033
Location:306 → 368

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

PHA02639
Location:305 → 438

PHA02639; EEV host range protein; Provisional

cd00041
Location:33 → 142

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd00190
Location:454 → 699

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

pfam00431
Location:190 → 299

CUB; CUB domain

pfam14670
Location:158 → 186

FXa_inhibition; Coagulation Factor Xa inhibitory site
XM_036159810.1 → XP_036015703.1 mannan-binding lectin serine protease 1 isoform X2

Conserved Domains (6) summary

cd00033
Location:306 → 368

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

PHA02639
Location:305 → 438

PHA02639; EEV host range protein; Provisional

cd00041
Location:33 → 142

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd00190
Location:454 → 699

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

pfam00431
Location:190 → 299

CUB; CUB domain

pfam14670
Location:158 → 186

FXa_inhibition; Coagulation Factor Xa inhibitory site
XM_006521829.5 → XP_006521892.1 mannan-binding lectin serine protease 1 isoform X3

See identical proteins and their annotated locations for XP_006521892.1

UniProtKB/TrEMBL

A0A2R8VHR3

Related

ENSMUSP00000155343.2, ENSMUST00000230040.2

Conserved Domains (4) summary

cd00033
Location:306 → 368

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

cd00041
Location:33 → 142

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

pfam00431
Location:190 → 299

CUB; CUB domain

pfam14670
Location:158 → 186

FXa_inhibition; Coagulation Factor Xa inhibitory site