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MASP1 MBL associated serine protease 1 [ Homo sapiens (human) ]

Gene ID: 5648, updated on 23-Nov-2023

Summary

Official Symbol
MASP1provided by HGNC
Official Full Name
MBL associated serine protease 1provided by HGNC
Primary source
HGNC:HGNC:6901
See related
Ensembl:ENSG00000127241 MIM:600521; AllianceGenome:HGNC:6901
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; MAP-1; MASP3; MAp44; PRSS5; CRARF1; MASP-3
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
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Genomic context

See MASP1 in Genome Data Viewer
Location:
3q27.3
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (187217282..187291737, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (190034704..190109174, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (186935070..187009525, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:186854800-186855300 Neighboring gene ribosomal protein L39 pseudogene 19 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:186856490-186856996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14994 Neighboring gene ribosomal protein L39 like Neighboring gene NANOG hESC enhancer GRCh37_chr3:186888631-186889132 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:186892851-186893682 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:186893683-186894513 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:186894725-186895400 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:186898085-186898586 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:186898587-186899086 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:186899087-186899588 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:186900591-186901090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:186901091-186901592 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:186903095-186904094 Neighboring gene uncharacterized LOC101929106 Neighboring gene uncharacterized LOC105374260 Neighboring gene receptor transporter protein 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:187003628-187004827 Neighboring gene uncharacterized LOC101929130 Neighboring gene NANOG hESC enhancer GRCh37_chr3:187013302-187013878 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:187077782-187078352 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:187078353-187078922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20969 Neighboring gene receptor transporter protein 4 Neighboring gene small nucleolar RNA U13

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
3MC syndrome 1
MedGen: C0796059 OMIM: 257920 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ26383, MGC126283, MGC126284, DKFZp686I01199

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
enables calcium-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in complement activation, lectin pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in complement activation, lectin pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in zymogen activation IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in extracellular region TAS
Traceable Author Statement
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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
mannan binding lectin serine peptidase 1
mannose-associated serine protease 1
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

NCBI Reference Sequences (RefSeq)

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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_001031849.3NP_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)
    AK129893, AV686235, BC039724, DC423174
    Consensus CDS
    CCDS33909.1
    UniProtKB/TrEMBL
    F8W876
    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_001879.6NP_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
    A8K542, A8K6M1, B4E2L7, O95570, P48740, Q68D21, Q8IUV8, Q96RS4, Q9UF09
    Related
    ENSP00000336792.5, ENST00000337774.10
    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_139125.4NP_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
    Consensus CDS
    CCDS33908.1
    UniProtKB/Swiss-Prot
    P48740
    Related
    ENSP00000296280.7, ENST00000296280.11
    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_033519.2 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
    Related
    ENST00000392472.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    187217282..187291737 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791769.1 Reference GRCh38.p14 PATCHES

    Range
    26961..101416 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    190034704..190109174 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)