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MASP1 (mannan binding lectin serine peptidase 1)

Identity

Alias_namesCRARF
PRSS5
mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
Alias_symbol (synonym)MASP
Other alias3MC1
CRARF1
MAP1
MASP3
MAp44
RaRF
HGNC (Hugo) MASP1
LocusID (NCBI) 5648
Atlas_Id 51261
Location 3q27.3  [Link to chromosome band 3q27]
Location_base_pair Starts at 186964142 and ends at 187009810 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ISY1 (3q21.3) / MASP1 (3q27.3)MASP1 (3q27.3) / C11orf58 (11p15.1)MASP1 (3q27.3) / TNS4 (17q21.2)
RPL13 (16q24.3) / MASP1 (3q27.3)ISY1 3q21.3 / MASP1 3q27.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)MASP1   6901
LRG (Locus Reference Genomic)LRG_349
Cards
Entrez_Gene (NCBI)MASP1  5648  mannan binding lectin serine peptidase 1
Aliases3MC1; CRARF; CRARF1; MAP1; 
MASP; MASP3; MAp44; PRSS5; RaRF
GeneCards (Weizmann)MASP1
Ensembl hg19 (Hinxton)ENSG00000127241 [Gene_View]  chr3:186964142-187009810 [Contig_View]  MASP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000127241 [Gene_View]  chr3:186964142-187009810 [Contig_View]  MASP1 [Vega]
ICGC DataPortalENSG00000127241
TCGA cBioPortalMASP1
AceView (NCBI)MASP1
Genatlas (Paris)MASP1
WikiGenes5648
SOURCE (Princeton)MASP1
Genetics Home Reference (NIH)MASP1
Genomic and cartography
GoldenPath hg19 (UCSC)MASP1  -     chr3:186964142-187009810 -  3q27.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MASP1  -     3q27.3   [Description]    (hg38-Dec_2013)
EnsemblMASP1 - 3q27.3 [CytoView hg19]  MASP1 - 3q27.3 [CytoView hg38]
Mapping of homologs : NCBIMASP1 [Mapview hg19]  MASP1 [Mapview hg38]
OMIM257920   600521   
Gene and transcription
Genbank (Entrez)AF284421 AI278088 AI828640 AK129893 AK291157
RefSeq transcript (Entrez)NM_001031849 NM_001879 NM_139125
RefSeq genomic (Entrez)NC_000003 NC_018914 NG_029440 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)MASP1
Cluster EST : UnigeneHs.89983 [ NCBI ]
CGAP (NCI)Hs.89983
Alternative Splicing GalleryENSG00000127241
Gene ExpressionMASP1 [ NCBI-GEO ]   MASP1 [ EBI - ARRAY_EXPRESS ]   MASP1 [ SEEK ]   MASP1 [ MEM ]
Gene Expression Viewer (FireBrowse)MASP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5648
GTEX Portal (Tissue expression)MASP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP48740   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP48740  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP48740
Splice isoforms : SwissVarP48740
Catalytic activity : Enzyme3.4.21.- [ Enzyme-Expasy ]   3.4.21.-3.4.21.- [ IntEnz-EBI ]   3.4.21.- [ BRENDA ]   3.4.21.- [ KEGG ]   
PhosPhoSitePlusP48740
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    CUB (PS01180)    EGF_2 (PS01186)    EGF_CA (PS01187)    SUSHI (PS50923)    TRYPSIN_DOM (PS50240)    TRYPSIN_HIS (PS00134)    TRYPSIN_SER (PS00135)   
Domains : Interpro (EBI)CUB_dom    EGF-like_Ca-bd_dom    EGF-like_CS    EGF_Ca-bd_CS    Pept_S1A_C1r/C1S/mannan-bd    Peptidase_S1_PA    Peptidase_S1A    Sushi_SCR_CCP_dom    Trypsin_dom    TRYPSIN_HIS    TRYPSIN_SER   
Domain families : Pfam (Sanger)CUB (PF00431)    Sushi (PF00084)    Trypsin (PF00089)   
Domain families : Pfam (NCBI)pfam00431    pfam00084    pfam00089   
Domain families : Smart (EMBL)CCP (SM00032)  CUB (SM00042)  EGF_CA (SM00179)  Tryp_SPc (SM00020)  
Conserved Domain (NCBI)MASP1
DMDM Disease mutations5648
Blocks (Seattle)MASP1
PDB (SRS)3DEM    3GOV    4AQB    4DJZ    4IGD    4IW4    4KKD   
PDB (PDBSum)3DEM    3GOV    4AQB    4DJZ    4IGD    4IW4    4KKD   
PDB (IMB)3DEM    3GOV    4AQB    4DJZ    4IGD    4IW4    4KKD   
PDB (RSDB)3DEM    3GOV    4AQB    4DJZ    4IGD    4IW4    4KKD   
Structural Biology KnowledgeBase3DEM    3GOV    4AQB    4DJZ    4IGD    4IW4    4KKD   
SCOP (Structural Classification of Proteins)3DEM    3GOV    4AQB    4DJZ    4IGD    4IW4    4KKD   
CATH (Classification of proteins structures)3DEM    3GOV    4AQB    4DJZ    4IGD    4IW4    4KKD   
SuperfamilyP48740
Human Protein AtlasENSG00000127241
Peptide AtlasP48740
HPRD02749
IPIIPI00299307   IPI00290283   IPI00216882   IPI00924973   IPI01011258   IPI00925177   IPI00924706   IPI00924502   IPI00927750   
Protein Interaction databases
DIP (DOE-UCLA)P48740
IntAct (EBI)P48740
FunCoupENSG00000127241
BioGRIDMASP1
STRING (EMBL)MASP1
ZODIACMASP1
Ontologies - Pathways
QuickGOP48740
Ontology : AmiGOcomplement activation, lectin pathway  complement activation, lectin pathway  serine-type endopeptidase activity  serine-type endopeptidase activity  calcium ion binding  protein binding  extracellular region  extracellular space  proteolysis  receptor-mediated endocytosis  complement activation  peptidase activity  protein homodimerization activity  negative regulation of complement activation  calcium-dependent protein binding  
Ontology : EGO-EBIcomplement activation, lectin pathway  complement activation, lectin pathway  serine-type endopeptidase activity  serine-type endopeptidase activity  calcium ion binding  protein binding  extracellular region  extracellular space  proteolysis  receptor-mediated endocytosis  complement activation  peptidase activity  protein homodimerization activity  negative regulation of complement activation  calcium-dependent protein binding  
Pathways : BIOCARTALectin Induced Complement Pathway [Genes]    Complement Pathway [Genes]   
Pathways : KEGGComplement and coagulation cascades    Staphylococcus aureus infection   
NDEx NetworkMASP1
Atlas of Cancer Signalling NetworkMASP1
Wikipedia pathwaysMASP1
Orthology - Evolution
OrthoDB5648
GeneTree (enSembl)ENSG00000127241
Phylogenetic Trees/Animal Genes : TreeFamMASP1
HOVERGENP48740
HOGENOMP48740
Homologs : HomoloGeneMASP1
Homology/Alignments : Family Browser (UCSC)MASP1
Gene fusions - Rearrangements
Fusion : MitelmanISY1/MASP1 [3q21.3/3q27.3]  [t(3;3)(q21;q27)]  
Fusion: TCGAISY1 3q21.3 MASP1 3q27.3 LGG
Fusion Cancer (Beijing)MASP1 [3q27.3]  -  C11orf58 [11p15.1]  [FUSC004437]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMASP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MASP1
dbVarMASP1
ClinVarMASP1
1000_GenomesMASP1 
Exome Variant ServerMASP1
ExAC (Exome Aggregation Consortium)MASP1 (select the gene name)
Genetic variants : HAPMAP5648
Genomic Variants (DGV)MASP1 [DGVbeta]
DECIPHER (Syndromes)3:186964142-187009810  ENSG00000127241
CONAN: Copy Number AnalysisMASP1 
Mutations
ICGC Data PortalMASP1 
TCGA Data PortalMASP1 
Broad Tumor PortalMASP1
OASIS PortalMASP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMASP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMASP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch MASP1
DgiDB (Drug Gene Interaction Database)MASP1
DoCM (Curated mutations)MASP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MASP1 (select a term)
intoGenMASP1
Cancer3DMASP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM257920    600521   
Orphanet20879   
MedgenMASP1
Genetic Testing Registry MASP1
NextProtP48740 [Medical]
TSGene5648
GENETestsMASP1
Huge Navigator MASP1 [HugePedia]
snp3D : Map Gene to Disease5648
BioCentury BCIQMASP1
ClinGenMASP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5648
Chemical/Pharm GKB GenePA30644
Clinical trialMASP1
Miscellaneous
canSAR (ICR)MASP1 (select the gene name)
Probes
Litterature
PubMed79 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMASP1
EVEXMASP1
GoPubMedMASP1
iHOPMASP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:08:38 CEST 2017

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