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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
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:23451785-23521240 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 14.23 cM, cytoband B2-B3
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    635 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88492
 protein coding gene Chr16:23449417-23521240 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022684
 protein coding gene Chr16:21034890-21104658 (-)
A/J MGP_AJ_G0022646
 protein coding gene Chr16:20029728-20099193 (-)
AKR/J MGP_AKRJ_G0022620
 protein coding gene Chr16:20885156-20957145 (-)
BALB/cJ MGP_BALBcJ_G0022651
 protein coding gene Chr16:20227526-20298109 (-)
C3H/HeJ MGP_C3HHeJ_G0022415
 protein coding gene Chr16:20998330-21067951 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023100
 protein coding gene Chr16:21570293-21643281 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020618
 protein coding gene Chr16:20667631-20736369 (-)
CAST/EiJ MGP_CASTEiJ_G0021944
 protein coding gene Chr16:20991739-21064356 (-)
CBA/J MGP_CBAJ_G0022386
 protein coding gene Chr16:22426715-22506100 (-)
DBA/2J MGP_DBA2J_G0022518
 protein coding gene Chr16:19987034-20055674 (-)
FVB/NJ MGP_FVBNJ_G0022494
 protein coding gene Chr16:19986668-20056891 (-)
LP/J MGP_LPJ_G0022586
 protein coding gene Chr16:20822810-20893701 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022513
 protein coding gene Chr16:21942271-22012964 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023112
 protein coding gene Chr16:20833806-20912020 (-)
PWK/PhJ MGP_PWKPhJ_G0021683
 protein coding gene Chr16:20260141-20332012 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021514
 protein coding gene Chr16:20560825-20635805 (-)
WSB/EiJ MGP_WSBEiJ_G0021988
 protein coding gene Chr16:20790281-20861200 (-)



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
less
  • Phenotype Summary
    8 phenotypes from 2 alleles in 2 genetic backgrounds
    14 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
less
  • All GO Annotations
    20
  • GO References
    5
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
    665
  • Tissues
    29
  • cDNA Data
    51
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17174 NCBI Gene Model | MGI Sequence Detail 69456 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
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 58
      cDNA 53
      Primer pair 4
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-2130, MGI:2146613
    References
    more
    • Summaries
      All 47
      Developmental Gene Expression 6
      Gene Ontology 5
      Phenotypes 14
    • 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:292644 Whiley PAF, et al., Activin A Determines Steroid Levels and Composition in the Fetal Testis. Endocrinology. 2020 Jul 1;161(7)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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    02/16/2021
    MGI 6.16     		The Jackson Laboratory