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MASP1 mannan binding lectin serine peptidase 1 [ Homo sapiens (human) ]

Gene ID: 5648, updated on 17-Jun-2019

Summary

Official Symbol
MASP1provided by HGNC
Official Full Name
mannan binding lectin serine peptidase 1provided by HGNC
Primary source
HGNC:HGNC:6901
See related
Ensembl:ENSG00000127241 MIM:600521
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
3MC1; MAP1; MASP; RaRF; CRARF; MASP3; MAp44; PRSS5; CRARF1
Summary
This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
Expression
Biased expression in liver (RPKM 20.5), endometrium (RPKM 13.2) and 10 other tissues See more
Orthologs

Genomic context

See MASP1 in Genome Data Viewer
Location:
3q27.3
Exon count:
20
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (187216085..187293529, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (186933873..187009810, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L39 pseudogene 19 Neighboring gene ribosomal protein L39 like Neighboring gene uncharacterized LOC101929106 Neighboring gene uncharacterized LOC105374260 Neighboring gene receptor transporter protein 1 Neighboring gene MASP1 intron CAGE-defined mid-level expression enhancer Neighboring gene uncharacterized LOC101929130 Neighboring gene receptor transporter protein 4 Neighboring gene long intergenic non-protein coding RNA 2041

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Michels syndrome
MedGen: C0796059 OMIM: 257920 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
NHGRI GWA Catalog

Pathways from BioSystems

  • Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystem (from REACTOME)
    Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystemScavenger receptors bind free extracellular ligands as the initial step in clearance of the ligands from the body (reviewed in Ascenzi et al. 2005, Areschoug and Gordon 2009, Nielsen et al. 2010). So...
  • Complement Activation, organism-specific biosystem (from WikiPathways)
    Complement Activation, organism-specific biosystemThe complement system is a biochemical cascade that helps, or complements, the ability of antibodies to clear pathogens from an organism. It is part of the immune system called the innate immune syst...
  • Complement and Coagulation Cascades, organism-specific biosystem (from WikiPathways)
    Complement and Coagulation Cascades, organism-specific biosystemBlood coagulation is a series of coordinated and calcium-dependent proenzyme-to-serine protease conversions likely to be localized on the surfaces of activated cells in vivo. It culminates in the for...
  • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
    Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement and coagulation cascades, conserved biosystem (from KEGG)
    Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement cascade, organism-specific biosystem (from REACTOME)
    Complement cascade, organism-specific biosystemIn the complement cascade, a panel of soluble molecules rapidly and effectively senses a danger or damage and triggers reactions to provide a response that discriminates among foreign intruders, cell...
  • Creation of C4 and C2 activators, organism-specific biosystem (from REACTOME)
    Creation of C4 and C2 activators, organism-specific biosystemTwo pathways lead to a complex capable of activating C4 and C2.The classical pathway is triggered by activation of the C1-complex, which consists of hexameric molecule C1q and a tetramer comprising t...
  • Ficolins bind to repetitive carbohydrate structures on the target cell surface, organism-specific biosystem (from REACTOME)
    Ficolins bind to repetitive carbohydrate structures on the target cell surface, organism-specific biosystemFicolins are recognition molecules in the lectin pathway of complement activation. Three types of ficolin have been identified in humans: M-ficolin (ficolin-1, FCN1), L-ficolin (ficolin-2, FCN2) and ...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Initial triggering of complement, organism-specific biosystem (from REACTOME)
    Initial triggering of complement, organism-specific biosystemComplement activation is due to a cascade of proteolytic steps, performed by serine protease domains in some of the components. Three different pathways of activation are distinguished triggered by t...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Lectin pathway of complement activation, organism-specific biosystem (from REACTOME)
    Lectin pathway of complement activation, organism-specific biosystemActivation of the lectin pathway (LP) is initiated by Mannose-binding lectin (MBL), the hetero-complex CL-LK formed from COLEC11 (Collectin liver 1, CL-L1) and COLEC10 (Collectin kidney 1, CL-K1), an...
  • Scavenging by Class A Receptors, organism-specific biosystem (from REACTOME)
    Scavenging by Class A Receptors, organism-specific biosystemClass A scavenger receptors contain an intracellular domain, a transmembrane region, a coiled-coil domain, a collagenous domain, and the SR cysteine-rich domain (reviewed in Areschoug and Gordon 2009...
  • Staphylococcus aureus infection, organism-specific biosystem (from KEGG)
    Staphylococcus aureus infection, organism-specific biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...
  • Staphylococcus aureus infection, conserved biosystem (from KEGG)
    Staphylococcus aureus infection, conserved biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ26383, MGC126283, MGC126284, DKFZp686I01199

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
calcium-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
complement activation TAS
Traceable Author Statement
more info
 
complement activation, lectin pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
complement activation, lectin pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
complement activation, lectin pathway TAS
Traceable Author Statement
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
receptor-mediated endocytosis TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
mannan-binding lectin serine protease 1
Names
C4/C2 activating component of Ra-reactive factor
Ra-reactive factor serine protease p100
complement factor MASP-3
complement-activating component of Ra-reactive factor
mannose-binding lectin-associated serine protease 1
mannose-binding protein-associated serine protease
serine protease 5
NP_001027019.1
NP_001870.3
NP_624302.1
XP_006713764.1
XP_011511291.1
XP_011511292.1
XP_011511293.1
XP_016862358.1
XP_016862359.1
XP_016862360.1
XP_016862361.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029440.1 RefSeqGene

    Range
    5001..80938
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_349

mRNA and Protein(s)

  1. NM_001031849.2NP_001027019.1  mannan-binding lectin serine protease 1 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001027019.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and 3' coding region, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1. This isoform (3) is referred to as MAp44 or MAP1 in the literature.
    Source sequence(s)
    AI828640, AK129893, AV686235, BC039724, DC423174
    Consensus CDS
    CCDS33909.1
    UniProtKB/Swiss-Prot
    P48740
    Related
    ENSP00000169293.6, ENST00000169293.10
    Conserved Domains (4) summary
    cd00041
    Location:28137
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:301362
    Sushi; Sushi repeat (SCR repeat)
    pfam00431
    Location:185294
    CUB; CUB domain
    pfam14670
    Location:153181
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  2. NM_001879.5NP_001870.3  mannan-binding lectin serine protease 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001870.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1. This isoform (1) is referred to as MASP1 in the literature.
    Source sequence(s)
    AC007920, D28593, DC423174
    Consensus CDS
    CCDS33907.1
    UniProtKB/Swiss-Prot
    P48740
    Related
    ENSP00000336792.5, ENST00000337774.9
    Conserved Domains (7) summary
    cd00033
    Location:367432
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00020
    Location:448691
    Tryp_SPc; Trypsin-like serine protease
    cd00041
    Location:28137
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00190
    Location:449694
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00084
    Location:301362
    Sushi; Sushi repeat (SCR repeat)
    pfam00431
    Location:185294
    CUB; CUB domain
    pfam14670
    Location:153181
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  3. NM_139125.3NP_624302.1  mannan-binding lectin serine protease 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_624302.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and 3' coding region, compared to variant 1. The encoded isoform (2) is longer and has a distinct C-terminus, compared to isoform 1. This isoform (2) is referred to as MASP3 in the literature.
    Source sequence(s)
    AC007920, AF284421, AI278088, AK291157, DC423174
    Consensus CDS
    CCDS33908.1
    UniProtKB/Swiss-Prot
    P48740
    Related
    ENSP00000296280.6, ENST00000296280.10
    Conserved Domains (6) summary
    smart00020
    Location:449711
    Tryp_SPc; Trypsin-like serine protease
    cd00041
    Location:28137
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00431
    Location:185294
    CUB; CUB domain
    pfam00084
    Location:301362
    Sushi; Sushi repeat (SCR repeat)
    pfam14670
    Location:153181
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl27761
    Location:347432
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

RNA

  1. NR_033519.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC007920, AF284421, AI278088, AK304334, DC423174

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    187216085..187293529 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006870.2XP_016862359.1  mannan-binding lectin serine protease 1 isoform X4

    Conserved Domains (7) summary
    cd00033
    Location:336401
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00020
    Location:417660
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:418663
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00084
    Location:270331
    Sushi; Sushi repeat (SCR repeat)
    pfam00431
    Location:154263
    CUB; CUB domain
    pfam14670
    Location:122150
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00049
    Location:50106
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
  2. XM_017006871.1XP_016862360.1  mannan-binding lectin serine protease 1 isoform X5

  3. XM_011512990.2XP_011511292.1  mannan-binding lectin serine protease 1 isoform X2

    Conserved Domains (7) summary
    cd00033
    Location:374439
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00020
    Location:455698
    Tryp_SPc; Trypsin-like serine protease
    cd00041
    Location:35144
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00190
    Location:456701
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00084
    Location:308369
    Sushi; Sushi repeat (SCR repeat)
    pfam00431
    Location:192301
    CUB; CUB domain
    pfam14670
    Location:160188
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  4. XM_011512989.2XP_011511291.1  mannan-binding lectin serine protease 1 isoform X1

    Conserved Domains (7) summary
    cd00033
    Location:374439
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00020
    Location:456718
    Tryp_SPc; Trypsin-like serine protease
    cd00041
    Location:35144
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00190
    Location:457718
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00084
    Location:308369
    Sushi; Sushi repeat (SCR repeat)
    pfam00431
    Location:192301
    CUB; CUB domain
    pfam14670
    Location:160188
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  5. XM_017006869.1XP_016862358.1  mannan-binding lectin serine protease 1 isoform X3

    Conserved Domains (7) summary
    cd00033
    Location:341406
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00020
    Location:423685
    Tryp_SPc; Trypsin-like serine protease
    cd00041
    Location:2111
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00190
    Location:424685
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00084
    Location:275336
    Sushi; Sushi repeat (SCR repeat)
    pfam00431
    Location:159268
    CUB; CUB domain
    pfam14670
    Location:127155
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  6. XM_017006872.1XP_016862361.1  mannan-binding lectin serine protease 1 isoform X6

    UniProtKB/Swiss-Prot
    P48740
    Related
    ENSP00000376264.2, ENST00000392472.6
    Conserved Domains (7) summary
    cd00033
    Location:254319
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00020
    Location:336598
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:337598
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00084
    Location:188249
    Sushi; Sushi repeat (SCR repeat)
    pfam00431
    Location:72181
    CUB; CUB domain
    pfam14670
    Location:4068
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:867
    vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
  7. XM_011512991.2XP_011511293.1  mannan-binding lectin serine protease 1 isoform X7

    Conserved Domains (4) summary
    cd00041
    Location:35144
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00084
    Location:308369
    Sushi; Sushi repeat (SCR repeat)
    pfam00431
    Location:192301
    CUB; CUB domain
    pfam14670
    Location:160188
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  8. XM_006713701.2XP_006713764.1  mannan-binding lectin serine protease 1 isoform X8

    UniProtKB/TrEMBL
    F8W876
    Related
    ENSP00000376262.2, ENST00000392470.6
    Conserved Domains (4) summary
    cd00041
    Location:2111
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam00431
    Location:159268
    CUB; CUB domain
    pfam00084
    Location:275336
    Sushi; Sushi repeat (SCR repeat)
    pfam14670
    Location:127155
    FXa_inhibition; Coagulation Factor Xa inhibitory site
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