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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MASP1 Gene

protein-coding   GIFtS: 67
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 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)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Mannan-Binding Lectin Serine Peptidase 1 (C4/C2 Activating Component Of
Ra-Reactive Factor)1 2
     3MC12
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
Mannan-Binding Lectin Serine Protease 1 (C4/C2 Activating Component Of
Ra-Reactive Factor)1
     

External Ids:    HGNC: 69011   Entrez Gene: 56482   Ensembl: ENSG000001272417   OMIM: 6005215   UniProtKB: P487403   
ORGUL members:         
NONCODE14:n409290      

Export aliases for MASP1 gene to outside databases

Previous GC identifers: GC03M183733 GC03M188193 GC03M188337 GC03M188256 GC03M188418 GC03M184338


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and is affiliated with the lncRNA class. Diseases associated with MASP1 include iga glomerulonephritis, and michels syndrome, and among its related super-pathways are Classical Complement Pathway and Complement and Coagulation Cascades. GO annotations related to this gene include serine-type endopeptidase activity and calcium ion binding. An important paralog of this gene is PAMR1.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MASP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Secreted
Sequence caution: Sequence=AAH39724.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
5 PDB 3D structures from and Proteopedia for MASP1:
3DEM (3D)        3GOV (3D)        4AQB (3D)        4DJZ (3D)        4IGD (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:

  • UniProtKB: The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF
    domains (By similarity)
  • UniProtKB: N-glycosylated. Some N-linked glycan are of the complex-type (By similarity)
  • UniProtKB: 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 processing
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P48740

  • 4 DME Specific Peptides for MASP1 (P48740)
     GGYYCSCR  CDHYCHNY  GDSGGPMV  SDFSNEERFTGF 

    MASP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MASP1 Protein Expression
    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
    Human Recombinant Protein Products for MASP1: 
    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 
    OriGene Custom Protein Services for MASP1
    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 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    MASP1 for ontologies           About GeneDecksing



    MASP1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    GenScript Custom Superior Antibodies Services for MASP1
    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 

    Assay Products for MASP1: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for MASP1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MASP1 
    Cloud-Clone Corp. CLIAs for MASP1


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

    5/10 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

    5/6 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


    MASP1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (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
         
    MASP1 for ontologies           About GeneDecksing


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

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Masp1):
     growth/size  immune system  mortality/aging 

    MASP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Masp1tm1Tefu for MASP1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MASP1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MASP1
    8/42 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MASP1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MASP1

    Gene Editing
    Products:
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    Sirion Biotech Customized adenovirus for overexpression of 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
    Sirion Biotech Customized lentivirus for stable overexpression of MASP1 
                         Customized lentivirus expression plasmids for stable overexpression of MASP1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MASP1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MASP1 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Classical Complement Pathway
    Complement Pathway0.75
    Lectin Induced Complement Pathway0.65
    Complement Activation, Classical Pathway0.68
    2Complement and coagulation cascades
    Complement and Coagulation Cascades0.71
    Complement and coagulation cascades0.71
    3Immune response Lectin induced complement pathway
    Immune response Lectin induced complement pathway0.56
    Immune response Lectin Induced complement pathway0.56
    4Classical antibody-mediated complement activation
    Creation of C4 and C2 activators0.88
    Complement cascade0.76
    Initial triggering of complement0.86
    5Ficolins bind to repetitive carbohydrate structures on the target cell surface
    Ficolins bind to repetitive carbohydrate structures on the target cell surface0.83
    Lectin pathway of complement activation0.83

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for MASP1
        Immune response Lectin Induced complement pathway

    2 Downloadable PowerPoint Slides of QIAGEN 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


    5/9        Reactome Pathways for MASP1 (see all 9)
        Ficolins bind to repetitive carbohydrate structures on the target cell surface
    Lectin pathway of complement activation
    Scavenging by Class A Receptors
    Creation of C4 and C2 activators
    Binding and Uptake of Ligands by Scavenger Receptors


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


    MASP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MASP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/29 Interacting proteins for MASP1 (P487402, 3 ENSP000002962804) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    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 (GO ID links to tree view):    About this table

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

    MASP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MASP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about MASP1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    8/42 QIAGEN miScript miRNA 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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    Browse for Gene Knock-down Tools from EMD Millipore
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    GenScript: all cDNA clones in your preferred vector (see all 3): MASP1 (NM_139125)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MASP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MASP1
    Sirion Biotech Customized lentivirus for stable overexpression of MASP1 
                         Customized lentivirus expression plasmids for stable overexpression of MASP1 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MASP1
      QIAGEN 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 

    24/124 AceView cDNA sequences (see all 124):

    AL708781 NM_001879 AW293251 AJ573151 AK129893 AL134380 BE048313 AA350864 
    BX424621 AI085454 BF924520 CB162101 NM_139125 BX494126 BI522639 BE890174 
    C20966 BV208177 CR749615 AW160620 AA670414 AF284421 AL565601 AW296903 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MASP1 expression in normal human tissues (normalized intensities)      MASP1 embryonic expression: see
    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 
     5/14 selected tissues (see all 14) fully expand
     
     Fibroblast
             Detroit 551
             X-gene Foreskin Fibroblasts   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
             Renal Vesicle
     
     Uncategorized (Uncategorized)    fully expand to see all 2 entries
             PureStem Progenitor W10
     
     Dermis (Uncategorized)    fully expand to see all 2 entries
             Human Dermal Fibroblasts-neonate (HDF-n)   
     
     Placenta (Extraembryonic Tissues)
             Placenta Pericyte   

    See MASP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MASP1

    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

        SABiosciences Custom PCR Arrays for MASP1
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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for MASP1 gene from 5/11 species (see all 11)    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 61.47(n)
    58.31(a)
      100002060  XM_001341900.2  XP_001341936.1 


    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
    Paralogs for MASP1 gene
    PAMR12  PROZ2  C1S2  C1R2  C1RL2  F92  F102  F22  
    HPR2  F72  PROC2  HP2  MASP22  
    18/29 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

    MASP1 for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1870 SNPs in MASP1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600521    OMIM disorders: --

    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

  • 20/25 diseases for MASP1 (see all 25):    About MalaCards
    iga glomerulonephritis    michels syndrome    babesiosis    radioulnar synostosis
    learning disability    synostosis    blepharophimosis    glomerulonephritis
    craniosynostosis    age related macular degeneration    macular degeneration    purpura
    nephritis    cleft lip    intrahepatic cholangiocarcinoma    cholangiocarcinoma
    meningioma    lupus erythematosus    schizophrenia    squamous cell carcinoma


    MASP1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for MASP1 gene, integrated from 9 sources (see all 140):
    (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. (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. (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. (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. (2000)
    5. Proteolytic activities of two types of mannose-binding lectin- associated serine protease. (PubMed id 10946292)1, 2, 9 Matsushita M.... Fujita T. (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. (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 Moller-Kristensen M....Jensenius J.C. (2007)
    8. A novel mannose-binding lectin-associated serine protease 1/3 gene variant. (PubMed id 17444953)1, 4, 9 Weiss G....Garred P. (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. (2001)
    10. Complement-activating complex of ficolin and mannose-binding lectin- associated serine protease. (PubMed id 10679061)1, 2, 9 Matsushita M.... Fujita T. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 5648 HGNC: 6901 AceView: MASP1 Ensembl:ENSG00000127241 euGenes: HUgn5648
    ECgene: MASP1 Kegg: 5648 H-InvDB: MASP1

    (According to HUGE)
    About This Section
      --

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



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