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

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: mouse all
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Genomic context

Location:: 3q27.3

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (187217282..187291737, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (190034704..190109174, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (186935070..187009525, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hepatocyte-derived MASP1-enriched small extracellular vesicles activate HSCs to promote liver fibrosis.
Title: Hepatocyte-derived MASP1-enriched small extracellular vesicles activate HSCs to promote liver fibrosis.
Identification of substrates of MBL Associated Serine Protease-1 (MASP-1) from human plasma using N-terminomics strategy.
Title: Identification of substrates of MBL Associated Serine Protease-1 (MASP-1) from human plasma using N-terminomics strategy.
Comprehensive analysis of the immune and prognostic implication of MASP1 in stomach adenocarcinoma.
Title: Comprehensive analysis of the immune and prognostic implication of MASP1 in stomach adenocarcinoma.
MASP1 Gene Polymorphism and MASP-3 Serum Levels in Patients with Chronic Chagas Disease.
Title: MASP1 Gene Polymorphism and MASP-3 Serum Levels in Patients with Chronic Chagas Disease.
Complement lectin pathway components MBL and MASP-1 promote haemostasis upon vessel injury in a microvascular bleeding model.
Title: Complement lectin pathway components MBL and MASP-1 promote haemostasis upon vessel injury in a microvascular bleeding model.
Synergy of protease-binding sites within the ecotin homodimer is crucial for inhibition of MASP enzymes and for blocking lectin pathway activation.
Title: Synergy of protease-binding sites within the ecotin homodimer is crucial for inhibition of MASP enzymes and for blocking lectin pathway activation.
MicroRNA-122-5p regulates coagulation and inflammation through MASP1 and HO-1 genes.
Title: MicroRNA-122-5p regulates coagulation and inflammation through MASP1 and HO-1 genes.
MASP-1 and MASP-3 Bind Directly to Aspergillus fumigatus and Promote Complement Activation and Phagocytosis.
Title: MASP-1 and MASP-3 Bind Directly to Aspergillus fumigatus and Promote Complement Activation and Phagocytosis.
Mannose-binding lectin-associated serine protease-1 cleaves plasminogen and plasma fibronectin: prefers plasminogen over known fibrinogen substrate.
Title: Mannose-binding lectin-associated serine protease-1 cleaves plasminogen and plasma fibronectin: prefers plasminogen over known fibrinogen substrate.
Proprotein Convertase Is the Highest-Level Activator of the Alternative Complement Pathway in the Blood.
Title: Proprotein Convertase Is the Highest-Level Activator of the Alternative Complement Pathway in the Blood.

Submit: New GeneRIF Correction See all GeneRIFs (87)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-34843 (e-PCR)
- UniSTS:69897

MASP1_V208 (e-PCR)
- UniSTS:280841

MASP1_923.2 (e-PCR)
- UniSTS:280841

RH12357 (e-PCR)
- UniSTS:51470

WI-16893 (e-PCR)
- UniSTS:77329

SHGC-81815 (e-PCR)
- UniSTS:103961

RH16233 (e-PCR)
- UniSTS:13339

G15960 (e-PCR)
- UniSTS:7221

STS-D17525 (e-PCR)
- UniSTS:47674

RH12435 (e-PCR)
- UniSTS:12401

SHGC-77643 (e-PCR)
- UniSTS:57206

RH36905 (e-PCR)
- UniSTS:87932

D3S3302E (e-PCR)
- UniSTS:153738

WI-9292 (e-PCR)
- UniSTS:71339

SHGC-144506 (e-PCR)
- UniSTS:174259

D3S3315 (e-PCR)
- UniSTS:8661

D3S3485E (e-PCR)
- UniSTS:154074

RH75422 (e-PCR)
- UniSTS:88054

RH93986 (e-PCR)
- UniSTS:87294

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 identical 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 negative regulation of complement activation	IDA Inferred from Direct Assay 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

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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

EC 3.4.21.-

NP_001870.3

EC 3.4.21.-

NP_624302.1

EC 3.4.21.-

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

NG_029440.1 RefSeqGene

Range

5001..80938

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_349

mRNA and Protein(s)

NM_001031849.3 → NP_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:28 → 137

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

pfam00084
Location:301 → 362

Sushi; Sushi repeat (SCR repeat)

pfam00431
Location:185 → 294

CUB; CUB domain

pfam14670
Location:153 → 181

FXa_inhibition; Coagulation Factor Xa inhibitory site
NM_001879.6 → NP_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:367 → 432

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:448 → 691

Tryp_SPc; Trypsin-like serine protease

cd00041
Location:28 → 137

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd00190
Location:449 → 694

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:301 → 362

Sushi; Sushi repeat (SCR repeat)

pfam00431
Location:185 → 294

CUB; CUB domain

pfam14670
Location:153 → 181

FXa_inhibition; Coagulation Factor Xa inhibitory site
NM_139125.4 → NP_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:449 → 711

Tryp_SPc; Trypsin-like serine protease

cd00041
Location:28 → 137

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

pfam00431
Location:185 → 294

CUB; CUB domain

pfam00084
Location:301 → 362

Sushi; Sushi repeat (SCR repeat)

pfam14670
Location:153 → 181

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl27761
Location:347 → 432

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

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