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Masp1
Gene Detail
Symbol

Name
ID
Masp1
mannan-binding lectin serine peptidase 1
MGI:88492
Synonyms
Crarf
Feature Type
protein coding gene
Genetic Map
Chromosome 16
14.23 cM, cytoband B2-B3
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr16:23451785-23520590 bp, - strand
From Ensembl annotation of GRCm38

  68806 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:88793  Vertebrate Homology Class
1 mouse; 1 rat; 1 chimpanzee

HCOP human homology predictions: MASP1
Protein SuperFamily: C1r-like complement-activating serine protease
Gene Tree: Masp1

Human
homologs
MASP1, mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
Orthology source: HGNC

IDs:
NCBI Gene ID: 5648
neXtProt AC: NX_P48740

Human Synonyms: 3MC1, CRARF, CRARF1, MAP1, MAp44, MASP, MASP3, PRSS5, RaRF

Human Chr (Location): 3q27-q28; chr3:187216085-187292022 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human MASP1

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Gene trapped(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for a knockout allele display decreased survivor rate, reduced body weight, and impaired activation of the lectin and alternative complement pathways.
 
Interactions
Masp1 interacts with 131 markers (Mir1a-1, Mir1a-2, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (18 annotations)
Process complement activation, complement activation, lectin pathway, ...
Component extracellular region, extracellular space
Function calcium-dependent protein binding, calcium ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (16)    Tissues (13)    Tissue x Stage Matrix (view)
Assay TypeResults
RT-PCR 16
cDNA source data(48)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase masp1    NEW 
Molecular
reagents
All nucleic(54) cDNA(50) Primer pair(3) Other(1)
Microarray probesets(5)
Other database
links
Ensembl Gene Model ENSMUSG00000022887 (Evidence)
Entrez Gene 17174 (Evidence)
UniGene 1213
DFCI TC1618198, TC1579229
DoTS DT.40178722, DT.97356042
NIA Mouse Gene Index U036924
EC 3.4.21.-
Consensus CDS Project CCDS37303.1
International Mouse Phenotyping Consortium Status Masp1
Sequences
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 sequences
All sequences(25) RefSeq(8) UniProt(1)
Polymorphisms
PCR(1) : SNPs within 2kb(668 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000859 CUB domain
InterPro IPR001881 EGF-like calcium-binding
InterPro IPR018097 EGF-like calcium-binding, conserved site
InterPro IPR013032 EGF-like, conserved site
InterPro IPR001254 Peptidase S1
InterPro IPR001314 Peptidase S1A, chymotrypsin-type
InterPro IPR024175 Peptidase S1A, complement C1r/C1S/mannan-binding
InterPro IPR018114 Peptidase S1, trypsin family, active site
InterPro IPR000436 Sushi/SCR/CCP
InterPro IPR009003 Trypsin-like cysteine/serine peptidase domain
Protein Ontology PR:000010193 mannan-binding lectin serine protease 1
References
(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:209080 Ruseva MM, et al., C3 dysregulation due to factor H deficiency is mannan-binding lectin-associated serine proteases (MASP)-1 and MASP-3 independent in vivo. Clin Exp Immunol. 2014 Apr;176(1):84-92
All references(39)
Other
accession IDs
MGD-MRK-2130, MGI:2146613

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/30/2015
MGI 5.22
The Jackson Laboratory