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Aliases for MASP1 Gene

Aliases for MASP1 Gene

  • Mannan-Binding Lectin Serine Peptidase 1 (C4/C2 Activating Component Of Ra-Reactive Factor) 2 3
  • Complement-Activating Component Of Ra-Reactive Factor 3 4
  • Mannose-Binding Lectin-Associated Serine Protease 1 3 4
  • Mannose-Binding Protein-Associated Serine Protease 3 4
  • Ra-Reactive Factor Serine Protease P100 3 4
  • Complement Factor MASP-3 3 4
  • Serine Protease 5 3 4
  • CRARF1 3 4
  • CRARF 3 4
  • PRSS5 3 4
  • RaRF 3 4
  • Mannan-Binding Lectin Serine Protease 1 (C4/C2 Activating Component Of Ra-Reactive Factor) 2
  • EC 3.4.21.104 63
  • EC 3.4.21.42 63
  • EC 3.4.21.- 4
  • EC 3.4.21 63
  • MASP-1 4
  • MASP3 3
  • MAp44 3
  • 3MC1 3
  • MAP1 3
  • MASP 3

External Ids for MASP1 Gene

Previous HGNC Symbols for MASP1 Gene

  • CRARF
  • PRSS5

Previous GeneCards Identifiers for MASP1 Gene

  • GC03M183733
  • GC03M188193
  • GC03M188337
  • GC03M188256
  • GC03M188418
  • GC03M186935
  • GC03M184338

Summaries for MASP1 Gene

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. Among its related pathways are Immune System and Complement and coagulation cascades. GO annotations related to this gene include calcium ion binding and serine-type endopeptidase activity. An important paralog of this gene is HP.

UniProtKB/Swiss-Prot for MASP1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MASP1 Gene

Genomics for MASP1 Gene

Regulatory Elements for MASP1 Gene

Genomic Location for MASP1 Gene

Chromosome:
3
Start:
187,216,085 bp from pter
End:
187,292,022 bp from pter
Size:
75,938 bases
Orientation:
Minus strand

Genomic View for MASP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MASP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MASP1 Gene

Proteins for MASP1 Gene

  • Protein details for MASP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48740-MASP1_HUMAN
    Recommended name:
    Mannan-binding lectin serine protease 1
    Protein Accession:
    P48740
    Secondary Accessions:
    • A8K542
    • A8K6M1
    • B4E2L7
    • O95570
    • Q68D21
    • Q8IUV8
    • Q96RS4
    • Q9UF09

    Protein attributes for MASP1 Gene

    Size:
    699 amino acids
    Molecular mass:
    79247 Da
    Quaternary structure:
    • Homodimer. Interacts with the oligomeric lectins MBL2, FCN2 and FCN3; triggers the lectin pathway of complement through activation of C3. Interacts with SERPING1.
    SequenceCaution:
    • Sequence=AAH39724.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MASP1 Gene

    Alternative splice isoforms for MASP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MASP1 Gene

Proteomics data for MASP1 Gene at MOPED

Selected DME Specific Peptides for MASP1 Gene

Post-translational modifications for MASP1 Gene

  • 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.
  • N-glycosylated. Some N-linked glycan are of the complex-type (By similarity).
  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
  • Glycosylation at Asn 49, Asn 178, Asn 385, and Asn 407
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for MASP1 (Complement Factor MASP3)

Domains & Families for MASP1 Gene

Gene Families for MASP1 Gene

Suggested Antigen Peptide Sequences for MASP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P48740

UniProtKB/Swiss-Prot:

MASP1_HUMAN :
  • Contains 2 CUB domains.
  • Belongs to the peptidase S1 family.
Domain:
  • Contains 2 CUB domains.
  • Contains 1 EGF-like domain.
  • Contains 1 peptidase S1 domain.
  • Contains 2 Sushi (CCP/SCR) domains.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with MASP1: view

Function for MASP1 Gene

Molecular function for MASP1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.10 mM for Ac-Gly-Lys-OMe (at 30 degrees Celsius) {ECO:0000269 PubMed:11527969, ECO:0000269 PubMed:12538697}; KM=310 uM for Bz-Arg-OEt (at 30 degrees Celsius) {ECO:0000269 PubMed:11527969, ECO:0000269 PubMed:12538697}; KM=4.8 uM for C2 (at 37 degrees Celsius) {ECO:0000269 PubMed:11527969, ECO:0000269 PubMed:12538697};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by SERPING1 and A2M.
UniProtKB/Swiss-Prot 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 Numbers (IUBMB) for MASP1 Gene

Gene Ontology (GO) - Molecular Function for MASP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IDA 11527969
GO:0005509 calcium ion binding IDA 18596036
GO:0005515 protein binding IPI 10946292
GO:0008233 peptidase activity IDA 10946292
GO:0042803 protein homodimerization activity IPI 18596036
genes like me logo Genes that share ontologies with MASP1: view
genes like me logo Genes that share phenotypes with MASP1: view

Animal Models for MASP1 Gene

MGI Knock Outs for MASP1:

Animal Model Products

miRNA for MASP1 Gene

miRTarBase miRNAs that target MASP1

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MASP1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for MASP1 Gene

Localization for MASP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MASP1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MASP1 Gene COMPARTMENTS Subcellular localization image for MASP1 gene
Compartment Confidence
extracellular 5
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MASP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 11485744
genes like me logo Genes that share ontologies with MASP1: view

Pathways & Interactions for MASP1 Gene

genes like me logo Genes that share pathways with MASP1: view

Pathways by source for MASP1 Gene

Gene Ontology (GO) - Biological Process for MASP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001867 complement activation, lectin pathway TAS --
GO:0006508 proteolysis IEA --
GO:0006898 receptor-mediated endocytosis TAS --
GO:0006956 complement activation TAS --
GO:0045087 innate immune response TAS --
genes like me logo Genes that share ontologies with MASP1: view

No data available for SIGNOR curated interactions for MASP1 Gene

Drugs & Compounds for MASP1 Gene

(4) Drugs for MASP1 Gene - From: NovoSeek and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
PMSF Pharma Serine proteinases inhibitor, irreversible 0
Calcium Nutra 0
histidine Nutra 31
serine Nutra 420

(6) Additional Compounds for MASP1 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Carbohydrates
FIBRINOGEN
mannan
  • Mannans
  • Mannoglycan
9036-88-8
mannose
N-acetylglucosamine
genes like me logo Genes that share compounds with MASP1: view

Transcripts for MASP1 Gene

Unigene Clusters for MASP1 Gene

Mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MASP1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MASP1 Gene

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: - -
SP6: - - - - - - - - - - - - - -

Relevant External Links for MASP1 Gene

GeneLoc Exon Structure for
MASP1
ECgene alternative splicing isoforms for
MASP1

Expression for MASP1 Gene

mRNA expression in normal human tissues for MASP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MASP1 Gene

This gene is overexpressed in Cervix - Ectocervix (x7.5), Liver (x6.3), Cervix - Endocervix (x5.6), Uterus (x5.0), and Vagina (x4.4).

Protein differential expression in normal tissues from HIPED for MASP1 Gene

This gene is overexpressed in Serum (43.1), Plasma (17.0), and Synovial fluid (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MASP1 Gene



SOURCE GeneReport for Unigene cluster for MASP1 Gene Hs.89983

mRNA Expression by UniProt/SwissProt for MASP1 Gene

P48740-MASP1_HUMAN
Tissue specificity: Protein of the plasma which is primarily expressed by liver.
genes like me logo Genes that share expression patterns with MASP1: view

Protein tissue co-expression partners for MASP1 Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

Orthologs for MASP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MASP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MASP1 35
  • 88.92 (n)
  • 91.21 (a)
MASP1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MASP1 35
  • 90.29 (n)
  • 91.62 (a)
MASP1 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Masp1 16
Masp1 36
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MASP1 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MASP1 36
  • 63 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MASP1 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves MASP1 35
  • 74.47 (n)
  • 75.9 (a)
MASP1 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MASP1 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia masp1 35
  • 68.02 (n)
  • 70.97 (a)
zebrafish
(Danio rerio)
Actinopterygii masp1 35
  • 61.25 (n)
  • 57.91 (a)
masp1 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8172 37
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
ManyToMany
-- 36
  • 33 (a)
ManyToMany
-- 36
  • 34 (a)
ManyToMany
-- 36
  • 27 (a)
ManyToMany
CSA.10613 36
  • 21 (a)
ManyToMany
Species with no ortholog for MASP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MASP1 Gene

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

Paralogs for MASP1 Gene

Paralogs for MASP1 Gene

Pseudogenes.org Pseudogenes for MASP1 Gene

genes like me logo Genes that share paralogs with MASP1: view

Variants for MASP1 Gene

Sequence variations from dbSNP and Humsavar for MASP1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs17040 -- 187,219,780(-) ggaaa(C/T)gctat utr-variant-3-prime
rs696403 -- 187,278,524(-) AGAGT(C/T)GTAAG intron-variant
rs696404 -- 187,237,330(-) AAGCT(C/T)CTGCT intron-variant
rs696405 -- 187,238,435(-) TGTTG(A/C)ATCAT intron-variant
rs696406 -- 187,238,478(-) GCCAA(A/T)AAGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MASP1 Gene

Variant ID Type Subtype PubMed ID
nsv508264 CNV Loss 20534489
esv23875 CNV Gain 19812545
nsv878074 CNV Gain 21882294
esv269708 CNV Insertion 20981092
esv272237 CNV Insertion 20981092

Variation tolerance for MASP1 Gene

Residual Variation Intolerance Score: 78.02% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.77; 66.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MASP1 Gene

HapMap Linkage Disequilibrium report
MASP1
Human Gene Mutation Database (HGMD)
MASP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MASP1 Gene

Disorders for MASP1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MASP1 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
michels syndrome
  • craniosynostosis with lid anomalies
3mc syndrome 1
  • oculopalatoskeletal syndrome
3mc syndrome
  • oculopalatoskeletal syndrome
mite infestation
  • mite infestations
iga glomerulonephritis
  • primary iga nephropathy
- elite association
Search MASP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MASP1_HUMAN
  • 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. {ECO:0000269 PubMed:21258343}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MASP1

Genetic Association Database (GAD)
MASP1
Human Genome Epidemiology (HuGE) Navigator
MASP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MASP1
genes like me logo Genes that share disorders with MASP1: view

No data available for Genatlas for MASP1 Gene

Publications for MASP1 Gene

  1. Molecular characterization of a novel serine protease involved in activation of the complement system by mannose-binding protein. (PMID: 8018603) Sato T. … Fujita T. (Int. Immunol. 1994) 2 23 67
  2. A new member of the C1s family of complement proteins found in a bactericidal factor, Ra-reactive factor, in human serum. (PMID: 8240317) Takada F. … Kawakami M. (Biochem. Biophys. Res. Commun. 1993) 2 23 67
  3. Activation of mannan-binding lectin-associated serine proteases leads to generation of a fibrin clot. (PMID: 20002787) Gulla K.C. … Hajela K. (Immunology 2010) 23 67
  4. Ficolins: complement-activating lectins involved in innate immunity. (PMID: 20375620) Matsushita M. (J Innate Immun 2010) 23 67
  5. A novel mannose-binding lectin/ficolin-associated protein is highly expressed in heart and skeletal muscle tissues and inhibits complement activation. (PMID: 20053996) Skjoedt M.O. … Garred P. (J. Biol. Chem. 2010) 23 67

Products for MASP1 Gene

Sources for MASP1 Gene

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