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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

  • Chr Location
    3q27-q28; chr3:187216085-187292022 (-)  GRCh38.p2
Human Diseases
more
  • Diseases
    1 with human MASP1 associations

Human Disease Mouse Models
       3mc Syndrome 1; 3MC1   OMIM: 257920
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
    11 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
    19
  • 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
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
    24
  • Tissues
    21
  • cDNA Data
    48
  • Literature Summary
    3
Interactions
less
Sequences &
Gene Models
less
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
less
  • SNPs within 2kb
    635 from dbSNP Build 142
  • PCR
    1
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000010193 mannan-binding lectin serine protease 1
  • EC
    3.4.21.-
  • InterPro Domains
    IPR000859 CUB domain
    IPR018097 EGF-like calcium-binding, conserved site
    IPR001881 EGF-like calcium-binding domain
    IPR013032 EGF-like, conserved site
    IPR001314 Peptidase S1A, chymotrypsin family
    IPR024175 Peptidase S1A, complement C1r/C1S/mannan-binding
    IPR009003 Peptidase S1, PA clan
    IPR001254 Serine proteases, trypsin domain
    IPR018114 Serine proteases, trypsin family, histidine active site
    IPR033116 Serine proteases, trypsin family, serine active site
    IPR000436 Sushi/SCR/CCP domain
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 37
    Developmental Gene Expression 3
    Gene Ontology 4
    Phenotypes 11
  • 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:228563 Koscielny G, et al., The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Nucleic Acids Res. 2014 Jan;42(Database issue):D802-9
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
09/27/2016
MGI 6.05 		The Jackson Laboratory