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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
Location & Maps
more
  • Sequence Map
    Chr16:23451785-23520590 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      68806 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
    12 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
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
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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
    24
  • Tissues
    21
  • cDNA Data
    48
  • Literature Summary
    3
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000022887 Ensembl Gene Model | MGI Sequence Detail 68806 C57BL/6J ±  kb
transcript ENSMUST00000089883 Ensembl | MGI Sequence Detail 2752 Not Applicable  
polypeptide ENSMUSP00000087327 Ensembl | MGI Sequence Detail 704 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    635 from dbSNP Build 142
  • PCR
    1
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 54
    cDNA 50
    Primer pair 3
    Other 1

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-2130, MGI:2146613
References
more
  • Summaries
    All 39
    Developmental Gene Expression 3
    Gene Ontology 4
    Phenotypes 12
  • 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:237926 Adamiak M, et al., Novel evidence that the mannan-binding lectin pathway of complement activation plays a pivotal role in triggering mobilization of hematopoietic stem/progenitor cells by activation of both the complement and coagulation cascades. Leukemia. 2017 Jan;31(1):262-265
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
07/11/2017
MGI 6.10 		The Jackson Laboratory