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Masp1 Gene Detail
Summary
  • Symbol
    Masp1
  • Name
    mannan-binding lectin serine peptidase 1
  • Synonyms
    Crarf
  • Feature Type
    protein coding gene
  • IDs
    MGI:88492
    NCBI Gene: 17174
  • Gene Overview
    MyGene.info: MASP1
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr16:23451785-23521074 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      69290 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 14.23 cM, cytoband B2-B3
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    MASP1, mannan binding lectin serine peptidase 1
  • Vertebrate Orthologs
    3
  • Human Ortholog
    MASP1, mannan binding lectin serine peptidase 1
    Orthology source: HGNC
  • Synonyms
    3MC1, CRARF, CRARF1, MAP1, MAp44, MASP, MASP3, PRSS5, RaRF
  • Links
    NCBI Gene ID: 5648
    neXtProt AC: NX_P48740
    UniProt: P48740

  • Chr Location
    3q27.3; chr3:187216085-187292220 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with human MASP1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knockout allele display decreased survivor rate, reduced body weight, and impaired activation of the lectin and alternative complement pathways.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    17
  • GO References
    4
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    34
  • Tissues
    29
  • cDNA Data
    48
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17174 NCBI Gene Model | MGI Sequence Detail 69290 C57BL/6J ±  kb
    transcript NM_001359083 RefSeq | MGI Sequence Detail 3953 C57BL/6  
    polypeptide P98064 UniProt | EBI | MGI Sequence Detail 704 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      635 from dbSNP Build 142
    • PCR
      1
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 55
      cDNA 50
      Primer pair 4
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-2130, MGI:2146613
    References
    more
    • Summaries
      All 41
      Developmental Gene Expression 4
      Gene Ontology 4
      Phenotypes 13
    • Earliest
      J:17689 Takahashi A, et al., Presence of a serine protease in the complement-activating component of the complement-dependent bactericidal factor, RaRF, in mouse serum. Biochem Biophys Res Commun. 1993 Feb 15;190(3):681-7
    • Latest
      J:250385 Gorelik A, et al., Developmental activities of the complement pathway in migrating neurons. Nat Commun. 2017 May 02;8:15096
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    06/12/2018
    MGI 6.12     		The Jackson Laboratory