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

    Gene ID: 17174, updated on 9-Dec-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, Dec 2024]
    Expression
    Broad expression in adrenal adult (RPKM 13.8), liver adult (RPKM 12.9) and 16 other tissues See more
    Orthologs
    NEW
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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
    • 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
     
    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)

    NEW Try the new Transcript table

    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