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Aliases for MASP1 Gene

Aliases for MASP1 Gene

  • Mannan Binding Lectin Serine Peptidase 1 2 3 5
  • 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
  • C4/C2 Activating Component Of Ra-Reactive Factor 2 3
  • 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 Peptidase 1 (C4/C2 Activating Component Of Ra-Reactive Factor) 2
  • Mannan-Binding Lectin Serine Protease 1 (C4/C2 Activating Component Of Ra-Reactive Factor) 2
  • Mannan-Binding Lectin Serine Protease 1 3
  • EC 3.4.21.- 4
  • 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) is a Protein Coding gene. Diseases associated with MASP1 include 3Mc Syndrome 1 and 3Mc Syndrome. Among its related pathways are Creation of C4 and C2 activators and Complement and coagulation cascades. Gene Ontology (GO) annotations related to this gene include calcium ion binding and serine-type endopeptidase activity. An important paralog of this gene is MASP2.

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

Additional gene information for MASP1 Gene

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

Genomics for MASP1 Gene

GeneHancer (GH) Regulatory Elements for MASP1 Gene

Promoters and enhancers for MASP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J187290 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE 659.8 -0.4 -381 3.7 FOXA2 TAF1 ZSCAN4 MAX SIN3A ZMYM3 YY1 POLR2A HNF4G RXRA MASP1 LOC101929130 SST RTP4
GH03J187261 Enhancer 1.1 Ensembl ENCODE 25.4 +27.9 27916 4.3 ATF1 PKNOX1 FOXA2 ARID4B FEZF1 BRCA1 ETS1 YY1 SLC30A9 ATF7 MASP1 SST LOC101929130 LOC105374260
GH03J187285 Enhancer 1.4 FANTOM5 Ensembl ENCODE 11.7 +5.4 5352 1.7 FOXA2 ATF1 ETS1 YY1 TCF12 ZNF766 FOS ATF7 RXRA ZHX2 SNORA4 SNORA63B TBCCD1 SNORA81 MASP1 RFC4 SNORA63 LOC101929130 LOC105374260
GH03J187262 Enhancer 0.6 ENCODE 24.7 +30.3 30324 0.2 ZNF146 FOXA2 MAFG BACH1 CEBPB MAFF ZNF316 NFE2 FOS MAFK MASP1 SST LOC101929130 LOC105374260
GH03J187318 Enhancer 0.9 Ensembl ENCODE 11.8 -27.6 -27550 1.8 CTCF ESRRA MAX ERF ZNF384 ZNF2 RAD21 RFX5 ZNF335 CC2D1A SST MASP1 RTP4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MASP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MASP1 gene promoter:
  • AREB6
  • AP-1
  • AML1a
  • XBP-1
  • Nkx6-1
  • MyoD
  • Ik-2
  • NF-1
  • Pax-4a

Genomic Locations for MASP1 Gene

Genomic Locations for MASP1 Gene
chr3:187,216,085-187,292,022
(GRCh38/hg38)
Size:
75,938 bases
Orientation:
Minus strand
chr3:186,933,873-187,009,810
(GRCh37/hg19)
Size:
75,938 bases
Orientation:
Minus strand

Genomic View for MASP1 Gene

Genes around MASP1 on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for MASP1 Gene

  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
  • N-glycosylated. Some N-linked glycan are of the complex-type (By similarity).
  • 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.
  • Glycosylation at isoforms=2, 4407, posLast=385385, isoforms=2, 3, 4178, and isoforms=2, 349
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MASP1 Gene

Domains & Families for MASP1 Gene

Gene Families for MASP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

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 :
  • Belongs to the peptidase S1 family.
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

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.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by SERPING1 and A2M.
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};
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

Enzyme Numbers (IUBMB) for MASP1 Gene

Phenotypes From GWAS Catalog 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 TAS,IDA --
GO:0005509 calcium ion binding IEA,IDA 18596036
GO:0005515 protein binding IPI 10946292
GO:0008233 peptidase activity IDA,IEA 10946292
GO:0008236 serine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with MASP1: view
genes like me logo Genes that share phenotypes with MASP1: view

Human Phenotype Ontology for MASP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for MASP1 Gene

miRTarBase miRNAs that target MASP1

Clone Products

No data available for Animal Models , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MASP1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
plasma membrane 1
mitochondrion 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

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
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
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

Gene Ontology (GO) - Biological Process for MASP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001867 complement activation, lectin pathway TAS --
GO:0002376 immune system process IEA --
GO:0006508 proteolysis IEA --
GO:0006898 receptor-mediated endocytosis TAS --
GO:0006956 complement activation 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

(6) Drugs for MASP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
PMSF Pharma Serine proteinases inhibitor, irreversible 0

(4) Additional Compounds for MASP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for MASP1 Gene



Protein tissue co-expression partners for MASP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MASP1 Gene:

MASP1

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.

Evidence on tissue expression from TISSUES for MASP1 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Bone marrow(4)
  • Heart(2.4)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MASP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • breast
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
Pelvis:
  • pelvis
  • penis
  • testicle
  • ureter
  • urethra
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • finger
  • foot
  • forearm
  • hand
  • hip
  • knee
  • lower limb
  • radius
  • shoulder
  • thigh
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with MASP1: view

Orthologs for MASP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MASP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MASP1 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MASP1 34 33
  • 90.29 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MASP1 34 33
  • 88.92 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MASP1 34
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Masp1 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MASP1 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves MASP1 34 33
  • 74.47 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MASP1 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia masp1 33
  • 68.02 (n)
zebrafish
(Danio rerio)
Actinopterygii masp1 34 33
  • 61.25 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8172 35
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
ManyToMany
-- 34
  • 33 (a)
ManyToMany
-- 34
  • 29 (a)
ManyToMany
-- 34
  • 27 (a)
ManyToMany
CSA.10613 34
  • 21 (a)
ManyToMany
Species where no ortholog for MASP1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MASP1: view image

Paralogs for MASP1 Gene

Paralogs for MASP1 Gene

(28) SIMAP similar genes for MASP1 Gene using alignment to 5 proteins:

  • MASP1_HUMAN
  • C9J1C7_HUMAN
  • C9JLU5_HUMAN
  • C9JMA2_HUMAN
  • F8W876_HUMAN

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 Variation AA Info Type
rs1085307080 uncertain-significance, Michels syndrome 187,235,837(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant, stop_gained
rs199907557 uncertain-significance, Michels syndrome 187,243,525(-) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs28945068 benign, Michels syndrome 187,241,507(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs35384947 benign, Michels syndrome 187,236,485(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant, synonymous_variant
rs3821805 benign, not specified, Michels syndrome 187,236,125(-) C/G/T coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
esv23875 CNV gain 19812545
esv3307963 CNV mobile element insertion 20981092
esv3342650 CNV insertion 20981092
esv3599008 CNV loss 21293372
nsv1009271 CNV gain 25217958
nsv1014596 CNV gain 25217958
nsv472067 CNV novel sequence insertion 20440878
nsv508264 CNV deletion 20534489

Variation tolerance for MASP1 Gene

Residual Variation Intolerance Score: 78% 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)

Additional Variant Information for MASP1 Gene

Human Gene Mutation Database (HGMD)
MASP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MASP1

SNP Genotyping and Copy Number Assay Products

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

Disorders for MASP1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MASP1 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
3mc syndrome 1
  • 3mc1
3mc syndrome
  • oculopalatoskeletal syndrome
iga glomerulonephritis
  • igan
progressive relapsing multiple sclerosis
  • prms
learning disability
  • academic skill disorder
- elite association - COSMIC cancer census association via MalaCards
Search MASP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MASP1_HUMAN
  • 3MC syndrome 1 (3MC1) [MIM:257920]: A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes. {ECO:0000269 PubMed:21258343, ECO:0000269 PubMed:26419238, ECO:0000269 PubMed:28301481}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MASP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (International immunology 1994) 2 3 4 22 58
  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 (Biochemical and biophysical research communications 1993) 2 3 4 22 58
  3. Cooperation between MASP-1 and MASP-2 in the generation of C3 convertase through the MBL pathway. (PMID: 17182967) Møller-Kristensen M … Jensenius JC (International immunology 2007) 3 4 22 58
  4. A novel mannose-binding lectin-associated serine protease 1/3 gene variant. (PMID: 17444953) Weiss G … Garred P (Scandinavian journal of immunology 2007) 3 22 44 58
  5. Activation of the lectin complement pathway by H-ficolin (Hakata antigen). (PMID: 11907111) Matsushita M … Fujita T (Journal of immunology (Baltimore, Md. : 1950) 2002) 3 4 22 58

Products for MASP1 Gene

Sources for MASP1 Gene

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