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    MASP1 MBL associated serine protease 1 [ Homo sapiens (human) ]

    Gene ID: 5648, updated on 23-Nov-2023

    Summary

    Official Symbol
    MASP1provided by HGNC
    Official Full Name
    MBL associated serine protease 1provided by HGNC
    Primary source
    HGNC:HGNC:6901
    See related
    Ensembl:ENSG00000127241 MIM:600521; AllianceGenome:HGNC:6901
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    3MC1; MAP1; MASP; RaRF; CRARF; MAP-1; MASP3; MAp44; PRSS5; CRARF1; MASP-3
    Summary
    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]
    Expression
    Biased expression in liver (RPKM 20.5), endometrium (RPKM 13.2) and 10 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MASP1 in Genome Data Viewer
    Location:
    3q27.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (187217282..187291737, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (190034704..190109174, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (186935070..187009525, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:186854800-186855300 Neighboring gene ribosomal protein L39 pseudogene 19 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:186856490-186856996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14994 Neighboring gene ribosomal protein L39 like Neighboring gene NANOG hESC enhancer GRCh37_chr3:186888631-186889132 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:186892851-186893682 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:186893683-186894513 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:186894725-186895400 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:186898085-186898586 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:186898587-186899086 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:186899087-186899588 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:186900591-186901090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:186901091-186901592 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:186903095-186904094 Neighboring gene uncharacterized LOC101929106 Neighboring gene uncharacterized LOC105374260 Neighboring gene receptor transporter protein 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:187003628-187004827 Neighboring gene uncharacterized LOC101929130 Neighboring gene NANOG hESC enhancer GRCh37_chr3:187013302-187013878 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:187077782-187078352 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:187078353-187078922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20969 Neighboring gene receptor transporter protein 4 Neighboring gene small nucleolar RNA U13

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    3MC syndrome 1
    MedGen: C0796059 OMIM: 257920 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ26383, MGC126283, MGC126284, DKFZp686I01199

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium-dependent protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 
    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 zymogen activation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    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 nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    mannan-binding lectin serine protease 1
    Names
    C4/C2 activating component of Ra-reactive factor
    Ra-reactive factor serine protease p100
    complement factor MASP-3
    complement-activating component of Ra-reactive factor
    mannan binding lectin serine peptidase 1
    mannose-associated serine protease 1
    mannose-binding lectin-associated serine protease 1
    mannose-binding protein-associated serine protease
    serine protease 5
    NP_001027019.1
    NP_001870.3
    NP_624302.1

    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.

    Genomic

    1. NG_029440.1 RefSeqGene

      Range
      5001..80938
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_349

    mRNA and Protein(s)

    1. NM_001031849.3NP_001027019.1  mannan-binding lectin serine protease 1 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001027019.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and 3' coding region, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1. This isoform (3) is referred to as MAp44 or MAP1 in the literature.
      Source sequence(s)
      AK129893, AV686235, BC039724, DC423174
      Consensus CDS
      CCDS33909.1
      UniProtKB/TrEMBL
      F8W876
      Related
      ENSP00000169293.6, ENST00000169293.10
      Conserved Domains (4) summary
      cd00041
      Location:28137
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00084
      Location:301362
      Sushi; Sushi repeat (SCR repeat)
      pfam00431
      Location:185294
      CUB; CUB domain
      pfam14670
      Location:153181
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    2. NM_001879.6NP_001870.3  mannan-binding lectin serine protease 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001870.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1. This isoform (1) is referred to as MASP1 in the literature.
      Source sequence(s)
      AC007920, D28593, DC423174
      Consensus CDS
      CCDS33907.1
      UniProtKB/Swiss-Prot
      A8K542, A8K6M1, B4E2L7, O95570, P48740, Q68D21, Q8IUV8, Q96RS4, Q9UF09
      Related
      ENSP00000336792.5, ENST00000337774.10
      Conserved Domains (7) summary
      cd00033
      Location:367432
      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:448691
      Tryp_SPc; Trypsin-like serine protease
      cd00041
      Location:28137
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00190
      Location:449694
      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:301362
      Sushi; Sushi repeat (SCR repeat)
      pfam00431
      Location:185294
      CUB; CUB domain
      pfam14670
      Location:153181
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    3. NM_139125.4NP_624302.1  mannan-binding lectin serine protease 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_624302.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and 3' coding region, compared to variant 1. The encoded isoform (2) is longer and has a distinct C-terminus, compared to isoform 1. This isoform (2) is referred to as MASP3 in the literature.
      Source sequence(s)
      AC007920, AF284421, AI278088, AK291157
      Consensus CDS
      CCDS33908.1
      UniProtKB/Swiss-Prot
      P48740
      Related
      ENSP00000296280.7, ENST00000296280.11
      Conserved Domains (6) summary
      smart00020
      Location:449711
      Tryp_SPc; Trypsin-like serine protease
      cd00041
      Location:28137
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      pfam00431
      Location:185294
      CUB; CUB domain
      pfam00084
      Location:301362
      Sushi; Sushi repeat (SCR repeat)
      pfam14670
      Location:153181
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl27761
      Location:347432
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

    RNA

    1. NR_033519.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC007920, AF284421, AI278088, AK304334, DC423174
      Related
      ENST00000392472.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      187217282..187291737 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791769.1 Reference GRCh38.p14 PATCHES

      Range
      26961..101416 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      190034704..190109174 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)