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    masp1 MBL associated serine protease 1 [ Danio rerio (zebrafish) ]

    Gene ID: 100002060, updated on 4-Jan-2025

    Summary

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    Official Symbol
    masp1provided by ZNC
    Official Full Name
    MBL associated serine protease 1provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-110421-4
    See related
    Ensembl:ENSDARG00000068726 AllianceGenome:ZFIN:ZDB-GENE-110421-4
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    MASP3; MAp44; si:dkeyp-75c7.1
    Summary
    Predicted to enable serine-type endopeptidase activity. Acts upstream of or within cranial skeletal system development; heart development; and neural crest cell migration. Located in cytoplasm. Is expressed in central nervous system; heart; and post-vent region. 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, Jan 2025]
    Orthologs
    human mouse all
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    Genomic context

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    See masp1 in Genome Data Viewer
    Location:
    chromosome: 15
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 15 NC_007126.7 (36187437..36223862)
    105 previous assembly GRCz10 (GCF_000002035.5) 15 NC_007126.6 (36329467..36365834)

    Chromosome 15 - NC_007126.7Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC108179332 Neighboring gene somatostatin 1, tandem duplicate 1 Neighboring gene uncharacterized LOC137487775 Neighboring gene osteocrin Neighboring gene geminin coiled-coil domain containing

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Endogenous Natural Complement Inhibitor Regulates Cardiac Development. Mortensen SA, et al. J Immunol, 2017 Apr 15. PMID 28258200
    2. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Rooryck C, et al. Nat Genet, 2011 Mar. PMID 21258343, Free PMC Article
    3. An environmentally relevant concentration of antibiotics impairs the immune system of zebrafish (Danio rerio) and increases susceptibility to virus infection. Pereiro P, et al. Front Immunol, 2022. PMID 36713462, Free PMC Article
    4. Fish complement C8 evolution, functional network analyses, and the theoretical interaction between C8 alpha chain and CD59. Li L, et al. Mol Immunol, 2020 Dec. PMID 33160183
    5. Systematic discovery of novel ciliary genes through functional genomics in the zebrafish. Choksi SP, et al. Development, 2014 Sep. PMID 25139857, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables serine-type peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within complement activation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cranial skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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
    		  
    acts_upstream_of_or_within neural crest cell migration IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within neural crest cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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
    		  

    General protein information

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    Preferred Names
    mannan-binding lectin serine protease 1
    Names
    Mannan-binding lectin-associated protein 44
    Mannan-binding lectin-associated serine protease 3
    mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
    NP_001373185.1
    NP_001373186.1

    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_001386256.1 → NP_001373185.1  mannan-binding lectin serine protease 1 isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BX571739
      UniProtKB/TrEMBL
      A0A8M1PV17, X1WH68
      Related
      ENSDARP00000129578.1, ENSDART00000154432.3
      Conserved Domains (6) summary
      PHA02639
      Location:300 → 425
      PHA02639; EEV host range protein; Provisional
      smart00020
      Location:465 → 729
      Tryp_SPc; Trypsin-like serine protease
      smart00042
      Location:29 → 135
      CUB; Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein
      pfam00084
      Location:301 → 362
      Sushi; Sushi repeat (SCR repeat)
      pfam00431
      Location:189 → 294
      CUB; CUB domain
      pfam14670
      Location:143 → 181
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    2. NM_001386257.1 → NP_001373186.1  mannan-binding lectin serine protease 1 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      BX571739
      UniProtKB/TrEMBL
      A0A2R8QH04, A0A8M2B4N0
      Related
      ENSDARP00000152325.1, ENSDART00000181536.1
      Conserved Domains (4) summary
      smart00042
      Location:29 → 135
      CUB; Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein
      pfam00084
      Location:301 → 362
      Sushi; Sushi repeat (SCR repeat)
      pfam00431
      Location:189 → 294
      CUB; CUB domain
      pfam14670
      Location:143 → 181
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007126.7 Reference GRCz11 Primary Assembly

      Range
      36187437..36223862
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_011006312.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version

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