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MASP1 Gene

protein-coding   GIFtS: 66
GCID: GC03M186935

Mannan-Binding Lectin Serine Peptidase 1 (C4/C2 Activating...

(Previous name: mannan-binding lectin serine protease 1 (C4/C2 activating...)
(Previous symbols: CRARF, PRSS5)
  See MASP1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mannan-Binding Lectin Serine Peptidase 1 (C4/C2 Activating Component Of
Ra-Reactive Factor)1 2
     Mannan-Binding Lectin Serine Protease 1 (C4/C2 Activating Component Of
Ra-Reactive Factor)1
CRARF1 2 3 5     MAP12
PRSS51 2 3     MASP2
Complement Factor MASP-32 3     MASP32
Complement-Activating Component Of Ra-Reactive Factor2 3     MAp442
Mannose-Binding Lectin-Associated Serine Protease 12 3     Mannan-Binding Lectin Serine Protease 12
Mannose-Binding Protein-Associated Serine Protease2 3     EC 3.4.21.-3
Serine Protease 52 3     MASP-13
CRARF12 3     EC 3.4.218
RaRF2 3     EC 3.4.21.1048
Ra-Reactive Factor Serine Protease P1002 3     EC 3.4.21.428
3MC12 5     

External Ids:    HGNC: 69011   Entrez Gene: 56482   Ensembl: ENSG000001272417   OMIM: 6005215   UniProtKB: P487403   

Export aliases for MASP1 gene to outside databases

Previous GC identifers: GC03M183733 GC03M188193 GC03M188337 GC03M188256 GC03M188418 GC03M184338


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MASP1 Gene:
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)

GeneCards Summary for MASP1 Gene:
MASP1 (mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)) is a protein-coding gene. Diseases associated with MASP1 include michels syndrome, and 3mc syndrome 1. GO annotations related to this gene include serine-type endopeptidase activity and calcium ion binding. An important paralog of this gene is PROZ.

UniProtKB/Swiss-Prot: MASP1_HUMAN, P48740
Function: Functions in the lectin pathway of complement, which performs a key role in innate immunity by
recognizing pathogens through patterns of sugar moieties and neutralizing them. The lectin pathway is triggered
upon binding of mannan-binding lectin (MBL) and ficolins to sugar moieties which leads to activation of the
associated proteases MASP1 and MASP2. Functions as an endopeptidase and may activate MASP2 or C2 or directly
activate C3 the key component of complement reaction. Isoform 2 may have an inhibitory effect on the activation
of the lectin pathway of complement or may cleave IGFBP5

Gene Wiki entry for MASP1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MASP1 gene promoter:
         AREB6   NF-1   Ik-2   Nkx6-1   AML1a   AP-1   MyoD   XBP-1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMASP1 promoter sequence
   Search Chromatin IP Primers for MASP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MASP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q27-q28   Ensembl cytogenetic band:  3q27.3   HGNC cytogenetic band: 3q27-q28

MASP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MASP1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M186935:  view genomic region     (about GC identifiers)

Start:
186,933,873 bp from pter      End:
187,009,810 bp from pter
Size:
75,938 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MASP1_HUMAN, P48740 (See protein sequence)
Recommended Name: Mannan-binding lectin serine protease 1 precursor  
Size: 699 amino acids; 79247 Da
Subunit: Homodimer. Interacts with the oligomeric lectins MBL2, FCN2 and FCN3; triggers the lectin pathway of
complement through activation of C3. Interacts with SERPING1
Sequence caution: Sequence=AAH39724.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Selected PDB 3D structures from and Proteopedia for MASP1 (see all 7):
3DEM (3D)        3GOV (3D)        4AQB (3D)        4DJZ (3D)        4IGD (3D)        4IW4 (3D)    
Secondary accessions: A8K542 A8K6M1 B4E2L7 O95570 Q68D21 Q8IUV8 Q96RS4 Q9UF09
Alternative splicing: 4 isoforms:  P48740-1   P48740-2   P48740-3   P48740-4   (Glycosylated on Asn-533 and Asn-599. Variant in position: 497:H->Y (in 3MC1). Variant in position: 630:C->R (in 3MC1). Variant in position: 666:G->E (in 3MC1))

Explore the universe of human proteins at neXtProt for MASP1: NX_P48740

Explore proteomics data for MASP1 at MOPED

Post-translational modifications: 

  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF
    domains (By similarity)1
  • N-glycosylated. Some N-linked glycan are of the complex-type (By similarity)1
  • Autoproteolytic processing of the proenzyme produces the active enzyme composed on the heavy and the light chain
    held together by a disulfide bond. Isoform 1 but not isoform 2 is activated through autoproteolytic processing1
  • Glycosylation2 at Asn49, Asn178, Asn385, Asn407
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for MASP1 (P48740)
     GGYYCSCR  CDHYCHNY  GDSGGPMV  SDFSNEERFTGF 


    See MASP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001027019.1  NP_001870.3  NP_624302.1  

    ENSEMBL proteins: 
     ENSP00000336792   ENSP00000296280   ENSP00000376264   ENSP00000169293   ENSP00000376262  
     ENSP00000376267   ENSP00000412021   ENSP00000409047  
    Reactome Protein details: P48740

    MASP1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for MASP1 (Complement Factor MASP3)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for MASP1
    OriGene Protein Over-expression Lysate for MASP1
    OriGene MassSpec for MASP1
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    GenScript Custom Purified and Recombinant Proteins Services for MASP1
    Novus Biologicals MASP1 Protein
    Novus Biologicals MASP1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MASP1

     
    Search eBioscience for Proteins for MASP1 

    MASP1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for MASP1 (Complement Factor MASP3)
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    Novus Biologicals MASP1 Antibodies
    Abcam antibodies for MASP1
    Cloud-Clone Corp. Antibodies for MASP1
    Search ThermoFisher Antibodies for MASP1
    LSBio Antibodies in human, mouse, rat for MASP1

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    Cloud-Clone Corp. ELISAs for MASP1
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    Search eBioscience for ELISAs for MASP1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PRSS: Serine peptidases / Serine peptidases

    Selected InterPro protein domains (see all 10):
     IPR024175 Pept_S1A_C1r/C1S/mannan-bd
     IPR001314 Peptidase_S1A
     IPR000436 Sushi_SCR_CCP
     IPR018097 EGF_Ca-bd_CS
     IPR001254 Peptidase_S1

    Graphical View of Domain Structure for InterPro Entry P48740

    ProtoNet protein and cluster: P48740

    Selected Blocks protein domains (see all 6):
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB000436 Sushi domain/SCR domain/CCP module
    IPB000859 CUB domain
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature


    UniProtKB/Swiss-Prot: MASP1_HUMAN, P48740
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 2 CUB domains
    Similarity: Contains 1 EGF-like domain
    Similarity: Contains 1 peptidase S1 domain
    Similarity: Contains 2 Sushi (CCP/SCR) domains


    Find genes that share domains with MASP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MASP1_HUMAN, P48740
    Function: Functions in the lectin pathway of complement, which performs a key role in innate immunity by
    recognizing pathogens through patterns of sugar moieties and neutralizing them. The lectin pathway is triggered
    upon binding of mannan-binding lectin (MBL) and ficolins to sugar moieties which leads to activation of the
    associated proteases MASP1 and MASP2. Functions as an endopeptidase and may activate MASP2 or C2 or directly
    activate C3 the key component of complement reaction. Isoform 2 may have an inhibitory effect on the activation
    of the lectin pathway of complement or may cleave IGFBP5
    Enzyme regulation: Inhibited by SERPING1 and A2M
    Biophysicochemical properties: Kinetic parameters: KM=0.10 mM for Ac-Gly-Lys-OMe (at 30 degrees Celsius); KM=310
    uM for Bz-Arg-OEt (at 30 degrees Celsius); KM=4.8 uM for C2 (at 37 degrees Celsius);

         Genatlas biochemistry entry for MASP1:
    mannan-binding lectin serine protease 1,complexing with MBL2,MASP2 and Map19,a spliced isoforms of MASP2 to form
    the antibody independent activator of the classical pathway of complement

         Enzyme Numbers (IUBMB): EC 3.4.212 EC 3.4.21.422 EC 3.4.21.1042 EC 3.4.21.-1

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity IDA11527969
    GO:0005509calcium ion binding IDA18596036
    GO:0005515protein binding IPI10946292
    GO:0008233peptidase activity IDA10946292
         
    Find genes that share ontologies with MASP1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MASP1:
     Decreased POU5F1-GFP protein e 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Masp1):
     growth/size/body  immune system  mortality/aging 

    Find genes that share phenotypes with MASP1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Masp1tm1Tefu for MASP1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MASP1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MASP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MASP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MASP1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat MASP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MASP1 (see all 42):
    hsa-miR-376b hsa-let-7d hsa-miR-513a-5p hsa-miR-632 hsa-miR-346 hsa-miR-3667-5p hsa-let-7g hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidMASP1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MASP1
    Predesigned siRNA for gene silencing in human, mouse, rat MASP1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for MASP1

    Clone
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    OriGene clones in human, mouse for MASP1 (see all 18)
    OriGene ORF clones in mouse, rat for MASP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): MASP1 (NM_139125)
    Sino Biological Human cDNA Clone for MASP1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MASP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MASP1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MASP1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MASP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MASP1_HUMAN, P48740: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol1
    lysosome1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA11485744

    Find genes that share ontologies with MASP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MASP1 About    
    See pathways by source

    SuperPathContained pathways About
    1Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement Activation, Classical Pathway0.00
    Complement and Coagulation Cascades0.71
    2Complement Pathway
    Immune response Lectin Induced complement pathway0.56
    Lectin Induced Complement Pathway0.00
    Complement Pathway0.33
    3Creation of C4 and C2 activators
    Creation of C4 and C2 activators0.85
    Ficolins bind to repetitive carbohydrate structures on the target cell surface0.00
    Initial triggering of complement0.85
    Lectin pathway of complement activation0.00
    Complement cascade0.68
    4Binding and Uptake of Ligands by Scavenger Receptors
    Binding and Uptake of Ligands by Scavenger Receptors0.53
    Scavenging by Class A Receptors0.00
    5Staphylococcus aureus infection
    Staphylococcus aureus infection


    Find genes that share SuperPaths with MASP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MASP1
        Lectin Induced Complement Pathway
    Complement Pathway

    1 GeneGo (Thomson Reuters) Pathway for MASP1
        Immune response Lectin induced complement pathway

    2 BioSystems Pathways for MASP1
        Complement Activation, Classical Pathway
    Complement and Coagulation Cascades


    4 Reactome Pathways for MASP1
        Scavenging by Class A Receptors
    Ficolins bind to repetitive carbohydrate structures on the target cell surface
    Lectin pathway of complement activation
    Initial triggering of complement


    2 Kegg Pathways  (Kegg details for MASP1):
        Complement and coagulation cascades
    Staphylococcus aureus infection

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MASP1
    Interactions:

        GeneGlobe Interaction Network for MASP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for MASP1 (P487402, 3 ENSP000002962804) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCK2O436392, 3, ENSP000002331544MINT-8263566 I2D: score=2 STRING: ENSP00000233154
    GADD45AP245222, 3MINT-8255920 I2D: score=2 
    GSK3BP498412, 3MINT-8257438 I2D: score=2 
    H2AFXP161042, 3MINT-8257922 I2D: score=2 
    MAPK6Q166592, 3MINT-8261395 I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001867complement activation, lectin pathway TAS--
    GO:0006508proteolysis ----
    GO:0006956complement activation TAS--
    GO:0045087innate immune response TAS--
    GO:0045916negative regulation of complement activation IDA11485744

    Find genes that share ontologies with MASP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MASP1

    9 Novoseek inferred chemical compound relationships for MASP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 80.5 91 8018603 (3), 8921412 (3), 12396007 (2), 18765903 (2) (see all 62)
    mannan 69.6 6 1460414 (1), 7515696 (1), 8921412 (1), 1550571 (1) (see all 5)
    n-acetylglucosamine 63.3 1 11367522 (1)
    mannose 54 4 10408372 (1), 9719152 (1), 11367522 (1)
    carbohydrates 40.7 3 10077993 (1), 11298833 (1), 10330290 (1)
    fibrinogen 35.3 8 18456010 (3), 15685507 (1), 17544812 (1), 17539966 (1) (see all 5)
    polysaccharide 28.2 1 7868903 (1)
    histidine 1.8 2 8018603 (1), 9777417 (1)
    calcium 0 2 10878362 (2)



    Find genes that share compounds with MASP1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MASP1 gene (3 alternative transcripts): 
    NM_001031849.2  NM_001879.5  NM_139125.3  

    Unigene Cluster for MASP1:

    Mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
    Hs.89983  [show with all ESTs]
    Unigene Representative Sequence: NM_001879
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000337774(uc003frh.2) ENST00000468121 ENST00000480349 ENST00000296280(uc003fri.3)
    ENST00000392472(uc003frj.3) ENST00000495249 ENST00000169293(uc003frk.2 uc011bse.2)
    ENST00000392470 ENST00000483719 ENST00000460839 ENST00000490558 ENST00000392475
    ENST00000465015 ENST00000439271 ENST00000425937
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MASP1 (see all 42):
    hsa-miR-376b hsa-let-7d hsa-miR-513a-5p hsa-miR-632 hsa-miR-346 hsa-miR-3667-5p hsa-let-7g hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidMASP1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MASP1
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): MASP1 (NM_139125)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MASP1
    Primer
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    OriGene qPCR primer pairs and template standards for MASP1
    OriGene qSTAR qPCR primer pairs in human, mouse for MASP1
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat MASP1
      QuantiTect SYBR Green Assays in human, mouse, rat MASP1
      QuantiFast Probe-based Assays in human, mouse, rat MASP1

    Additional mRNA sequence: 

    AF284421.1 AK129893.1 AK291157.1 AK291686.1 AK300663.1 AK304334.1 AL137646.1 BC039724.1 
    BC106945.1 BC106946.1 BX647237.1 CR749615.1 NR_033519.1 

    16 DOTS entries:

    DT.100753622  DT.75100767  DT.219845  DT.109295  DT.92422351  DT.95264713  DT.100806390  DT.100665706 
    DT.219853  DT.92422356  DT.452547  DT.95202429  DT.92422358  DT.421160  DT.100815355  DT.40283427 

    Selected AceView cDNA sequences (see all 124):

    NM_139125 CB162101 AJ573151 AI085454 AK129893 BE890174 BX424621 AA350864 
    BE048313 NM_001879 AW293251 AL134380 BI522639 AL708781 BF924520 BX494126 
    C02210 AI032469 BV183463 AW954607 R99523 AW160620 AW205860 BP378428 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MASP1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
    SP1:                                -                                                     -                 -     -     -                                       
    SP2:                                -                                                     -                                                                     
    SP3:                                -                                                                                                                           
    SP4:                                                                                                                                                            
    SP5:                                -     -                                                                                                                     


    ECgene alternative splicing isoforms for MASP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    MASP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAATGATGT
    MASP1 Expression
    About this image


    MASP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Ureteric Bud Cells Ureteric Bud
             Renal Vesicle
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Epidermis (Integumentary System)
             Detroit 551
     
     Fibroblasts
             Detroit 551
     
     Ovary (Reproductive System)
             Mature follicles
    MASP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MASP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.89983

    UniProtKB/Swiss-Prot: MASP1_HUMAN, P48740
    Tissue specificity: Protein of the plasma which is primarily expressed by liver

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MASP1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Masp15 mannan-binding lectin serine peptidase 1   --   16 (14.23 cM) 23451785 
    chicken
    (Gallus gallus)
    Aves MASP11 mannan-binding lectin serine peptidase 1 (C4/C2 activating more 74.47(n)
    75.9(a)
      407088  NM_213586.1  NP_998751.1 
    lizard
    (Anolis carolinensis)
    Reptilia MASP16
    mannan-binding lectin serine peptidase 1 (C4/C2 ac...
    57(a)
    1 ↔ 1
    GL343730.1(51210-227647)
    African clawed frog
    (Xenopus laevis)
    Amphibia AB078637.12   -- 76.4(n)    AB078637.1 
    zebrafish
    (Danio rerio)
    Actinopterygii masp11 mannan-binding lectin serine peptidase 1 (C4/C2 activating more 61.25(n)
    57.91(a)
      100002060  XM_005157777.1  XP_005157834.1 


    ENSEMBL Gene Tree for MASP1 (if available)
    TreeFam Gene Tree for MASP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for MASP1 gene
    PROZ2  C1S2  C1R2  C1RL2  F92  F102  F22  HPR2  
    F72  HP2  PROC2  MASP22  
    Selected SIMAP similar genes for MASP1 using alignment to 5 protein entries:     MASP1_HUMAN (see all proteins) (see all similar genes):
    DKFZp686O1553    DMBT1    PAMR1    MASP2    C1S    TLL1
    PCOLCE2    PDGFD    C1R    CUBN    GPR126    PRSS22
    KLK6    PRSS1    PRSS2    PRSS27    PRSS3    TRY8

    Find genes that share paralogs with MASP1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for MASP1
    PGOHUM00000237899


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for MASP1 (see all 1870)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1393781891,2
    Cuntested1186830358(+) CAGCCC/TGTGTT 5 R G nc-transcript-variantmis11Minor allele frequency- T:0.00NA 4550
    rs1476910751,2
    C--184356460(+) CGGTT-/GGAGAA 3 -- nc-transcript-variantut31 int10--------
    rs622944221,2
    C,F--184356465(+) TTGAGG/AAAGTG 3 -- nc-transcript-variantut31 int16Minor allele frequency- A:0.15MN NA 410
    rs32144011,2
    C,F--184373842(-) ACTCT-/CCGAAA 4 -- int15Minor allele frequency- C:0.30MN 408
    rs106636021,2
    C--184390811(+) AGAAA-/AGAAA 
            
    GGAAG
    4 -- int1 trp30--------
    rs3753423031,2
    C--184398415(+) TAACC-/CTTTTACC 4 -- int1 cds10--------
    rs58551301,2
    C--184403602(+) GCCCC-/C/TATGGG 4 -- int10--------
    rs798017211,2
    F--184403602(+) GCCCCC/TATGGG 4 -- int11Minor allele frequency- T:0.50NA 4
    rs1444299121,2
    C--184404781(+) AAAAA-/AA    
       AG
    /GA
    AAGAA
    4 -- int10--------
    rs1387588331,2
    --186802279(+) CTTTCC/TCATTT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for MASP1 (186933873 - 187009810 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for MASP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv272237CNV Insertion20981092
    esv269708CNV Insertion20981092
    nsv508264CNV Loss20534489
    esv23875CNV Gain19812545
    nsv878074CNV Gain21882294

    Human Gene Mutation Database (HGMD): MASP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MASP1
    DNA2.0 Custom Variant and Variant Library Synthesis for MASP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 600521   
    OMIM disorders: 257920  
    UniProtKB/Swiss-Prot: MASP1_HUMAN, P48740
  • 3MC syndrome 1 (3MC1) [MIM:257920]: A disorder characterized by facial dysmorphism that includes
    hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate,
    craniosynostosis, learning disability and genital, limb and vesicorenal anomalies. The term 3MC syndrome includes
    Carnevale, Mingarelli, Malpuech, and Michels syndromes. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 3 diseases for MASP1:    
    About MalaCards
    michels syndrome    3mc syndrome 1    iga glomerulonephritis


    Find genes that share disorders with MASP1           About GenesLikeMe

    4 Novoseek inferred disease relationships for MASP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nephropathy iga 51.1 1 11316237 (1)
    glomerulonephritis 10.2 1 9719152 (1)
    lupus erythematosus systemic 0 1 11684563 (1)
    immunodeficiency 0 2 10913141 (1)

    Genetic Association Database (GAD): MASP1
    Human Genome Epidemiology (HuGE) Navigator: MASP1 (10 documents)

    Export disorders for MASP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MASP1 gene, integrated from 10 sources (see all 148):
    (articles sorted by number of sources associating them with MASP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of a novel serine protease involved in activation of the complement system by mannose-binding protein. (PubMed id 8018603)1, 2, 3, 9 Sato T.... Fujita T. (Int. Immunol. 1994)
    2. A new member of the C1s family of complement proteins found in a bactericidal factor, Ra-reactive factor, in human serum. (PubMed id 8240317)1, 2, 3, 9 Takada F.... Kawakami M. (Biochem. Biophys. Res. Commun. 1993)
    3. Characterization of the interaction between L-ficolin/p35 and mannan- binding lectin-associated serine proteases-1 and -2. (PubMed id 12421953)1, 2, 9 Cseh S....Thielens N.M. (J. Immunol. 2002)
    4. Interaction of C1q and mannan-binding lectin (MBL) with C1r, C1s, MBL-associated serine proteases 1 and 2, and the MBL-associated protein MAp19. (PubMed id 10878362)1, 2, 9 Thiel S.... Jensenius J.C. (J. Immunol. 2000)
    5. Proteolytic activities of two types of mannose-binding lectin- associated serine protease. (PubMed id 10946292)1, 2, 9 Matsushita M.... Fujita T. (J. Immunol. 2000)
    6. Exon structure of the gene encoding the human mannose-binding protein-associated serine protease light chain: comparison with complement C1r and C1s genes. (PubMed id 8921412)1, 2, 9 Endo Y.... Fujita T. (Int. Immunol. 1996)
    7. Cooperation between MASP-1 and MASP-2 in the generation of C3 convertase through the MBL pathway. (PubMed id 17182967)1, 2, 9 Moeller-Kristensen M....Jensenius J.C. (Int. Immunol. 2007)
    8. A novel mannose-binding lectin-associated serine protease 1/3 gene variant. (PubMed id 17444953)1, 4, 9 Weiss G....Garred P. (Scand. J. Immunol. 2007)
    9. Substrate specificities of recombinant mannan-binding lectin- associated serine proteases-1 and -2. (PubMed id 11527969)1, 2, 9 Rossi V....Arlaud G.J. (J. Biol. Chem. 2001)
    10. Complement-activating complex of ficolin and mannose-binding lectin- associated serine protease. (PubMed id 10679061)1, 2, 9 Matsushita M.... Fujita T. (J. Immunol. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 5648 HGNC: 6901 AceView: MASP1 Ensembl:ENSG00000127241 euGenes: HUgn5648
    ECgene: MASP1 Kegg: 5648 H-InvDB: MASP1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MASP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for MASP1 gene:
    Search GeneIP for patents involving MASP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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