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

Gene ID: 17174, updated on 2-Nov-2024

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, Nov 2024]
Expression
Broad expression in adrenal adult (RPKM 13.8), liver adult (RPKM 12.9) and 16 other tissues See more
Orthologs
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Genomic context

See Masp1 in Genome Data Viewer
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_000082.7Genomic Context describing neighboring genes Neighboring gene beta galactoside alpha 2,6 sialyltransferase 1 Neighboring gene predicted gene, 30814 Neighboring gene STARR-seq mESC enhancer starr_40438 Neighboring gene STARR-seq mESC enhancer starr_40440 Neighboring gene STARR-seq mESC enhancer starr_40441 Neighboring gene STARR-seq mESC enhancer starr_40442 Neighboring gene receptor transporter protein 1 Neighboring gene VISTA enhancer mm1315 Neighboring gene 60S ribosomal protein L7a pseudogene Neighboring gene receptor transporter protein 4 Neighboring gene STARR-seq mESC enhancer starr_40444 Neighboring gene STARR-seq mESC enhancer starr_40445 Neighboring gene STARR-seq mESC enhancer starr_40448 Neighboring gene ATP-binding cassette, sub-family E (OABP), member 1 pseudogene Neighboring gene predicted gene, 31430

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables calcium ion binding ISO
Inferred from Sequence Orthology
more info
 
enables calcium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables calcium-dependent protein binding IEA
Inferred from Electronic Annotation
more info
 
enables calcium-dependent protein binding ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables peptidase activity ISO
Inferred from Sequence Orthology
more info
 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
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
 
Process Evidence Code Pubs
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
 
involved_in negative regulation of complement activation ISO
Inferred from Sequence Orthology
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 IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
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 IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 

General protein information

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
NP_032581.2
XP_006521892.1
XP_036015702.1
XP_036015703.1
XP_036015704.1

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)

  1. NM_001359083.1NP_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:306368
    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:454715
    Tryp_SPc; Trypsin-like serine protease
    cd00041
    Location:33142
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00431
    Location:190299
    CUB; CUB domain
    pfam00084
    Location:372437
    Sushi; Sushi repeat (SCR repeat)
    pfam14670
    Location:158186
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  2. NM_008555.3NP_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:306368
    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:453696
    Tryp_SPc; Trypsin-like serine protease
    cd00041
    Location:33142
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00190
    Location:454699
    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:190299
    CUB; CUB domain
    pfam14670
    Location:158186
    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

  1. NC_000082.7 Reference GRCm39 C57BL/6J

    Range
    23261778..23340127 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (2) summary
    cd00190
    Location:87332
    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:570
    Sushi; Sushi repeat (SCR repeat)
  2. XM_036159809.1XP_036015702.1  mannan-binding lectin serine protease 1 isoform X1

    Conserved Domains (6) summary
    cd00033
    Location:306368
    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:305438
    PHA02639; EEV host range protein; Provisional
    cd00041
    Location:33142
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00190
    Location:454699
    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:190299
    CUB; CUB domain
    pfam14670
    Location:158186
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  3. XM_036159810.1XP_036015703.1  mannan-binding lectin serine protease 1 isoform X2

    Conserved Domains (6) summary
    cd00033
    Location:306368
    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:305438
    PHA02639; EEV host range protein; Provisional
    cd00041
    Location:33142
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00190
    Location:454699
    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:190299
    CUB; CUB domain
    pfam14670
    Location:158186
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  4. XM_006521829.5XP_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:306368
    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:33142
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00431
    Location:190299
    CUB; CUB domain
    pfam14670
    Location:158186
    FXa_inhibition; Coagulation Factor Xa inhibitory site

RNA

  1. XR_003951766.2 RNA Sequence