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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MASP1 Gene

protein-coding GIFtS: 66
GCID: GC03M186935

mannan-binding lectin serine peptidase 1 (C4/C2 activating...

(Previous name: mannan-binding lectin serine protease 1 (C4/C2 activating...)
(Previous symbols: CRARF, PRSS5)

Explore 24 diseases affiliated with
MASP1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Mannan-Binding Lectin Serine Peptidase 1 (C4/C2 Activating Component Of Ra-Reactive Factor)¹ ²		Mannan-Binding Lectin Serine Protease 1 (C4/C2 Activating Component Of Ra-Reactive Factor)¹
CRARF¹ ² ³ ⁵		3MC1²
PRSS5¹ ² ³		MAP1²
MASP¹ ²		MASP3²
Complement Factor MASP-3² ³		MAp44²
Complement-Activating Component Of Ra-Reactive Factor² ³		Mannan-Binding Lectin Serine Protease 1²
Mannose-Binding Lectin-Associated Serine Protease 1² ³		EC 3.4.21.-³
Mannose-Binding Protein-Associated Serine Protease² ³		MASP-1³
Serine Protease 5² ³		EC 3.4.21⁸
CRARF1² ³		EC 3.4.21.104⁸
RaRF² ³		EC 3.4.21.42⁸
Ra-Reactive Factor Serine Protease P100² ³

External Ids:	HGNC: 6901¹	Entrez Gene: 5648²	Ensembl: ENSG00000127241⁷	OMIM: 600521⁵	UniProtKB: P48740³

ORGUL members:
	NONCODE:n409290

Export aliases for MASP1 gene to outside databases

Previous GC identifers: GC03M183733 GC03M188193 GC03M188337 GC03M188256 GC03M188418 GC03M184338

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MASP1:

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)

UniProtKB/Swiss-Prot: MASP1_HUMAN, P48740

Function: Functions in the lectin pathway of complement, which performs a key role in innate immunity by recognizing

pathogens through patterns of sugar moieties and neutralizing them. The lectin pathway is triggered upon binding of

mannan-binding lectin (MBL) and ficolins to sugar moieties which leads to activation of the associated proteases MASP1

and MASP2. Functions as an endopeptidase and may activate MASP2 or C2 or directly activate C3 the key component of

complement reaction. Isoform 2 may have an inhibitory effect on the activation of the lectin pathway of complement or

may cleave IGFBP5

Gene Wiki entry for MASP1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MASP1 gene promoter:
AREB6 NF-1 Ik-2 Nkx6-1 AML1a AP-1 MyoD XBP-1 Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MASP1 promoter sequence

Search SABiosciences Chromatin IP Primers for MASP1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MASP1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q27-q28 Ensembl cytogenetic band: 3q27.3 HGNC cytogenetic band: 3q27-q28

MASP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MASP1 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M186935: view genomic region (about GC identifiers)

Start:	186,933,873 bp from pter	End:	187,009,810 bp from pter
Size:	75,938 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MASP1_HUMAN, P48740 (See protein sequence)

Recommended Name: Mannan-binding lectin serine protease 1 precursor

Size: 699 amino acids; 79247 Da

Subunit: Homodimer. Interacts with the oligomeric lectins MBL2, FCN2 and FCN3; triggers the lectin pathway of

complement through activation of C3. Interacts with SERPING1

Subcellular location: Secreted

Sequence caution: Sequence=AAH39724.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

5 PDB 3D structures from and Proteopedia for MASP1:

3DEM (3D)

3GOV (3D)

4AQB (3D)

4DJZ (3D)

4IGD (3D)

Secondary accessions: A8K542 A8K6M1 B4E2L7 O95570 Q68D21 Q8IUV8 Q96RS4 Q9UF09

Alternative splicing: 4 isoforms: P48740-1 P48740-2 P48740-3 P48740-4 (Glycosylated on Asn-533 and Asn-599. Variant in position: 497:H->Y (in 3MC1). Variant in position: 630:C->R (in 3MC1). Variant in position: 666:G->E (in 3MC1))

Explore the universe of human proteins at neXtProt for MASP1: NX_P48740

Post-translational modifications:

The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF

domains (By similarity)¹

N-glycosylated. Some N-linked glycan are of the complex-type (By similarity)¹

Autoproteolytic processing of the proenzyme produces the active enzyme composed on the heavy and the light chain held

together by a disulfide bond. Isoform 1 but not isoform 2 is activated through autoproteolytic processing¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P48740

4 DME Specific Peptides for MASP1 (P48740)

GGYYCSCR

CDHYCHNY

GDSGGPMV

SDFSNEERFTGF

MASP1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001027019.1 NP_001870.3 NP_624302.1

ENSEMBL proteins:

ENSP00000336792 ENSP00000296280 ENSP00000376264 ENSP00000169293 ENSP00000376262

ENSP00000376267 ENSP00000412021 ENSP00000409047

Reactome Protein details: P48740
Human Recombinant Protein Products for MASP1:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for MASP1 (Complement Factor MASP3)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Proteins (see all 2): MASP1 OriGene Protein Over-expression Lysate (see all 2): MASP1 OriGene Custom Protein Services for MASP1
	GenScript Custom Purified and Recombinant Proteins Services for MASP1
	Novus Biologicals MASP1 Protein Novus Biologicals MASP1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MASP1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	IDA	11485744

MASP1 for ontologies About GeneDecksing

MASP1 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	R&D Systems Antibodies for MASP1 (Complement Factor MASP3)
	Browse OriGene Antibodies OriGene Custom Antibody Services for MASP1
	GenScript Custom Superior Antibodies Services for MASP1
	Novus Biologicals MASP1 Antibodies
	Abcam antibodies for MASP1
	Uscn Antibodies for MASP1
	Search ThermoFisher Antibodies for MASP1

Assay Products for MASP1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for MASP1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for MASP1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MASP1 for domains About GeneDecksing

5/10 InterPro domains/families (see all 10):

IPR024175 Pept_S1A_C1r/C1S/mannan-bd

IPR001314 Peptidase_S1A

IPR000436 Sushi_SCR_CCP

IPR018097 EGF_Ca-bd_CS

IPR001254 Peptidase_S1

Graphical View of Domain Structure for InterPro Entry P48740

ProtoNet protein and cluster: P48740

5/6 Blocks protein families (see all 6):

IPB000152 Aspartic acid and asparagine hydroxylation site

IPB000436 Sushi domain/SCR domain/CCP module

IPB000859 CUB domain

IPB001254 Serine protease

IPB001314 Chymotrypsin serine protease family (S1) signature

UniProtKB/Swiss-Prot: MASP1_HUMAN, P48740

Similarity: Belongs to the peptidase S1 family

Similarity: Contains 2 CUB domains

Similarity: Contains 1 EGF-like domain

Similarity: Contains 1 peptidase S1 domain

Similarity: Contains 2 Sushi (CCP/SCR) domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: MASP1_HUMAN, P48740

Function: Functions in the lectin pathway of complement, which performs a key role in innate immunity by recognizing

pathogens through patterns of sugar moieties and neutralizing them. The lectin pathway is triggered upon binding of

mannan-binding lectin (MBL) and ficolins to sugar moieties which leads to activation of the associated proteases MASP1

and MASP2. Functions as an endopeptidase and may activate MASP2 or C2 or directly activate C3 the key component of

complement reaction. Isoform 2 may have an inhibitory effect on the activation of the lectin pathway of complement or

may cleave IGFBP5

Enzyme regulation: Inhibited by SERPING1 and A2M

Biophysicochemical properties: Kinetic parameters: KM=0.10 mM for Ac-Gly-Lys-OMe (at 30 degrees Celsius); KM=310 uM for

Bz-Arg-OEt (at 30 degrees Celsius); KM=4.8 uM for C2 (at 37 degrees Celsius);

Genatlas biochemistry entry for MASP1:

mannan-binding lectin serine protease 1,complexing with MBL2,MASP2 and Map19,a spliced isoforms of MASP2 to form the

antibody independent activator of the classical pathway of complement

Enzyme Numbers (IUBMB): EC 3.4.21² EC 3.4.21.42² EC 3.4.21.104² EC 3.4.21.-¹

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004252	serine-type endopeptidase activity	IDA	11527969
GO:0005509	calcium ion binding	IDA	18596036
GO:0005515	protein binding	IPI	11485744
GO:0008233	peptidase activity	IDA	12538697
GO:0042803	protein homodimerization activity	IPI	18596036

MASP1 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for MASP1:

Decreased POU5F1-GFP protein e

3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Masp1):

growth/size

immune system

mortality/aging

MASP1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Masp1^tm1Tefu for MASP1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MASP1

miRNA Products:		OriGene 3'-UTR Clone (see all 3): MASP1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MASP1
		8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate MASP1 (see all 42):
		hsa-miR-376b hsa-let-7d hsa-miR-513a-5p hsa-miR-632 hsa-miR-346 hsa-miR-3667-5p hsa-let-7g hsa-let-7a

		SwitchGear 3'UTR luciferase reporter plasmid: MASP1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MASP1 (see all 7) OriGene shRNA RFP: MASP1 OriGene siRNA: MASP1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MASP1
		Sirion Biotech Custom design and validation of potent shRNA sequences against MASP1

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for MASP1
			Sirion Biotech Customized adenovirus for overexpression of MASP1 Sirion Biotech Customized adenovirus for potent knockdown of MASP1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MASP1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MASP1 (see all 4) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): MASP1 (NM_139125)
		Sino Biological Human cDNA Clone for MASP1
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MASP1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MASP1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MASP1
		Search LifeMap BioReagents cell lines for MASP1
		Sirion Biotech Customized stable knockdown cell line services for MASP1 Sirion Biotech Customized inducible knockdown cell line services for MASP1 Sirion Biotech Customized stable overexpressing cell line services for MASP1 Sirion Biotech Customized inducible overexpressing cell line services for MASP1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MASP1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cleavage of Alpha-1-Microglobulin

	Creation of C4 and C2 activators	0.70			Complement cascade	0.47
	Initial triggering of complement	0.60

Classical Complement Pathway

	Complement Pathway	0.75			Lectin Induced Complement Pathway	0.56
	Complement Activation, Classical Pathway	0.65

Immune System

Immune System

1.00

Innate Immune System

0.46

Complement and coagulation cascades

Complement and coagulation cascades

1.00

Complement and Coagulation Cascades

0.72

Immune response_Alternative complement pathway

Immune response Lectin Induced complement pathway

0.56

Immune response_Lectin induced complement pathway

0.56

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for MASP1

Immune response Lectin Induced complement pathway

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MASP1

	Lectin Induced Complement Pathway
	Complement Pathway

1 GeneGo (Thomson Reuters) Pathway for MASP1

Immune response Lectin induced complement pathway

2 BioSystems Pathways for MASP1

	Complement Activation, Classical Pathway
	Complement and Coagulation Cascades

5/6 Reactome Pathways for MASP1 (see all 6)

	Creation of C4 and C2 activators
	Lectin pathway of complement activation
	Complement cascade
	Immune System
	Initial triggering of complement

2 Kegg Pathways (Kegg details for MASP1):

	Complement and coagulation cascades
	Staphylococcus aureus infection

MASP1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MASP1

STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

5/23 Interacting proteins for MASP1 (P48740^{2, 3} ENSP00000296280⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NCK2	O43639²^,³, ENSP00000233154⁴	MINT-8263566 I2D: score=2 STRING: ENSP00000233154
GADD45A	P24522²^,³	MINT-8255920 I2D: score=2
GSK3B	P49841²^,³	MINT-8257438 I2D: score=2
H2AFX	P16104²^,³	MINT-8257922 I2D: score=2
MAPK6	Q16659²^,³	MINT-8261395 I2D: score=2

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001867	complement activation, lectin pathway	TAS	--
GO:0006508	proteolysis	IEA	--
GO:0006956	complement activation	TAS	--
GO:0045087	innate immune response	TAS	--
GO:0045916	negative regulation of complement activation	IDA	11485744

MASP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

MASP1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MASP1
9 Novoseek chemical compound relationships for MASP1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
serine	80.5	91	8018603 (3), 8921412 (3), 12396007 (2), 18765903 (2) (see all 62)
mannan	69.6	6	1460414 (1), 7515696 (1), 8921412 (1), 1550571 (1) (see all 5)
n-acetylglucosamine	63.3	1	11367522 (1)
mannose	54	4	10408372 (1), 9719152 (1), 11367522 (1)
carbohydrates	40.7	3	10077993 (1), 11298833 (1), 10330290 (1)
fibrinogen	35.3	8	18456010 (3), 15685507 (1), 17544812 (1), 17539966 (1) (see all 5)
polysaccharide	28.2	1	7868903 (1)
histidine	1.8	2	8018603 (1), 9777417 (1)
calcium	0	2	10878362 (2)

Search CenterWatch for drugs/clinical trials and news about MASP1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MASP1 gene (3 alternative transcripts):

NM_001031849.2 NM_001879.5 NM_139125.3

Unigene Cluster for MASP1:

Mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)

Hs.89983 [show with all ESTs]

Unigene Representative Sequence: NM_001879

15 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000337774(uc003frh.2) ENST00000468121 ENST00000480349 ENST00000296280(uc003fri.3)

ENST00000392472(uc003frj.3) ENST00000495249 ENST00000169293(uc003frk.2 uc011bse.2)

ENST00000392470 ENST00000483719 ENST00000460839 ENST00000490558 ENST00000392475

ENST00000465015 ENST00000439271 ENST00000425937

miRNA Products:		OriGene 3'-UTR Clone (see all 3): MASP1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MASP1
		8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate MASP1 (see all 42):
		hsa-miR-376b hsa-let-7d hsa-miR-513a-5p hsa-miR-632 hsa-miR-346 hsa-miR-3667-5p hsa-let-7g hsa-let-7a

		SwitchGear 3'UTR luciferase reporter plasmid: MASP1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MASP1 (see all 7) OriGene shRNA RFP: MASP1 OriGene siRNA: MASP1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MASP1
		Sirion Biotech Custom design and validation of potent shRNA sequences against MASP1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MASP1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MASP1 (see all 4) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): MASP1 (NM_139125)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MASP1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MASP1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MASP1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse / rat MASP1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MASP1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MASP1

Additional cDNA sequence:

AF284421.1 AK129893.1 AK291157.1 AK291686.1 AK300663.1 AK304334.1 AL137646.1 BC039724.1

BC106945.1 BC106946.1 BX647237.1 CR749615.1 NR_033519.1

16 DOTS entries:

DT.100753622 DT.75100767 DT.219845 DT.109295 DT.92422351 DT.95264713 DT.100806390 DT.100665706

DT.219853 DT.92422356 DT.452547 DT.95202429 DT.92422358 DT.421160 DT.100815355 DT.40283427

24/124 AceView cDNA sequences (see all 124):

AK129893 BE890174 BF924520 BX424621 NM_139125 AL708781 AI085454 BI522639

BX494126 AJ573151 NM_001879 AL134380 AA350864 BE048313 AW293251 CB162101

BX647237 AL137646 AA195907 AA676342 AV655773 AA115946 AI192207 BX641029

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for MASP1 (see all 6) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3a	·	3b	^	4	^	5	^	6a	·	6b	^	7	^	8	^	9	^	10	^	11	^	12	^	13a	·	13b	·	13c	^	14	^	15	^	16	^	17	^	18	^	19
SP1:											-																		-						-		-		-
SP2:											-																		-
SP3:											-
SP4:
SP5:											-		-

ECgene alternative splicing isoforms for MASP1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MASP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAAATGATGT

About this image

MASP1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Atrioventricular Canal

Heart

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)

Heart, Myocardium, Smooth Muscle

PureStem™ progenitor W10 (Embryonic Progenitor Cell)

PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

Mature follicles (In-vitro growth and ...)

See MASP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MASP1

SOURCE GeneReport for Unigene cluster: Hs.89983

UniProtKB/Swiss-Prot: MASP1_HUMAN, P48740

Tissue specificity: Protein of the plasma which is primarily expressed by liver

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for MASP1 gene from 3/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
chicken (Gallus gallus)	Aves	MASP1¹	mannan-binding lectin serine peptidase 1 (C4/C2 activating more	74.47(n) 75.9(a)	407088 NM_213586.1 NP_998751.1
African clawed frog (Xenopus laevis)	Amphibia	AB078637.1²	--	76.4(n)	AB078637.1
zebrafish (Danio rerio)	Actinopterygii	masp1¹	mannan-binding lectin serine peptidase 1 (C4/C2 activating more	61.47(n) 58.31(a)	100002060 XM_001341900.2 XP_001341936.1

ENSEMBL Gene Tree for MASP1 (if available)
TreeFam Gene Tree for MASP1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MASP1 gene

PROZ² PAMR1² C1S² C1R² C1RL² F9² F10² F2²

HPR² HP² PROC² F7² MASP2²

18/34 SIMAP similar genes for MASP1 using alignment to 5 protein entries: MASP1_HUMAN (see all proteins) (see all similar genes):

DKFZp686O1553 DMBT1 PAMR1 MASP2 C1S TLL1

PCOLCE2 PDGFD C1R CUBN GPR126 PRSS22

KLK6 PRSS1 PRSS2 PRSS27 PRSS3 TRY8

MASP1 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for MASP1
PGOHUM00000237899

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs139378189^1,2	C	other	198492260(+)	`CAGCCC/TGTGTT`	5	R G	nc-transcript-variantmis¹		1		NA	4550
rs79010036^1,2	F	--	184338004(+)	`AAAGCC/TATTTT`	1	--	ds500¹		1		WA	118
rs75918510^1,2	F	--	184338319(+)	`TATTTA/GTTTTA`	1	--	ut3¹		1		WA	118
rs79916634^1,2		--	184338497(+)	`CCAATC/TCCGGA`	1	--	ut3¹		0	--	--	--	--
rs76972183^1,2	F	--	184338499(+)	`AATCCC/TGGAAT`	1	--	ut3¹		1		WA	118
rs115660200^1,2	C,F	--	184338886(+)	`GAGATG/AGGAAA`	1	--	ut3¹		1		NA	120
rs76274231^1,2	F	--	184339303(+)	`CAGGAA/GTAATA`	1	--	ut3¹		1		WA	118
rs72549264^1,2	F	--	184340352(-)	`AAGGTT/CTTGGG`	1	--	ut3¹		7		MN CSA WA	524
rs11719069^1,2	C,H	--	184340371(+)	`AATGGT/GCTTTC`	1	--	ut3¹ trp³		3		EA NS	298
rs9853383^1,2	C,F,H	--	184340422(+)	`TTGTTC/GTATTA`	1	--	ut3¹		13		MN EA NS WA NA CSA	948

HapMap Linkage Disequilibrium report for MASP1 (186933873 - 187009810 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for MASP1
1 CNV: 68523
Human Gene Mutation Database (HGMD): MASP1

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DNA2.0 Custom Variant and Variant Library Synthesis for MASP1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MASP1 for disorders About GeneDecksing

OMIM gene information: 600521 OMIM disorders: --

UniProtKB/Swiss-Prot: MASP1_HUMAN, P48740

Defects in MASP1 are the cause of 3MC syndrome type 1 (3MC1) [MIM:257920]. 3MC1 is a disorder characterized by

facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip

and/or palate, craniosynostosis, learning disability and genital, limb and vesicorenal anomalies. The term 3MC

syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes

20/24 diseases for MASP1 (see all 24): About MalaCards

macular degeneration iga glomerulonephritis babesiosis lupus erythematosus

synostosis glomerulonephritis intrahepatic cholangiocarcinoma craniosynostosis

squamous cell carcinoma cholangiocarcinoma nephropathy purpura

nephritis pulmonary disease hepatocellular carcinoma meningioma

4 Novoseek disease relationships for MASP1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
nephropathy iga	51.1	1	11316237 (1)
glomerulonephritis	10.2	1	9719152 (1)
lupus erythematosus systemic	0	1	11684563 (1)
immunodeficiency	0	2	10913141 (1)

Human Genome Epidemiology (HuGE) Navigator: MASP1 (10 documents)

Export disorders for MASP1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MASP1 gene, integrated from 9 sources (see all 137):
(articles sorted by number of sources associating them with MASP1)

Utopia: connect your pdf to the dynamic
world of online information

Molecular characterization of a novel serine protease involved in activation of the complement system by mannose-binding protein. (PubMed id 8018603)^{1, 2, 3, 9} Sato T.... Fujita T. (1994)
A new member of the C1s family of complement proteins found in a bactericidal factor, Ra-reactive factor, in human serum. (PubMed id 8240317)^{1, 2, 3, 9} Takada F....Kawakami M. (1993)
Characterization of the interaction between L-ficolin/p35 and mannan- binding lectin-associated serine proteases-1 and -2. (PubMed id 12421953)^{1, 2, 9} Cseh S....Thielens N.M. (2002)
Interaction of C1q and mannan-binding lectin (MBL) with C1r, C1s, MBL-associated serine proteases 1 and 2, and the MBL-associated protein MAp19. (PubMed id 10878362)^{1, 2, 9} Thiel S....Jensenius J.C. (2000)
Proteolytic activities of two types of mannose-binding lectin- associated serine protease. (PubMed id 10946292)^{1, 2, 9} Matsushita M.... Fujita T. (2000)
Exon structure of the gene encoding the human mannose-binding protein-associated serine protease light chain: comparison with complement C1r and C1s genes. (PubMed id 8921412)^{1, 2, 9} Endo Y.... Fujita T. (1996)
Cooperation between MASP-1 and MASP-2 in the generation of C3 convertase through the MBL pathway. (PubMed id 17182967)^{1, 2, 9} Moller-Kristensen M....Jensenius J.C. (2007)
Substrate specificities of recombinant mannan-binding lectin-associated serine proteases-1 and -2. (PubMed id 11527969)^{1, 2, 9} Rossi V....Arlaud G.J. (2001)
Complement-activating complex of ficolin and mannose-binding lectin- associated serine protease. (PubMed id 10679061)^{1, 2, 9} Matsushita M.... Fujita T. (2000)
Activation of the lectin complement pathway by H-ficolin (Hakata antigen). (PubMed id 11907111)^{1, 2, 9} Matsushita M....Fujita T. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5648	HGNC: 6901	AceView: MASP1	Ensembl:ENSG00000127241	euGenes: HUgn5648
ECgene: MASP1	Kegg: 5648	H-InvDB: MASP1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for MASP1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MASP1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MASP1 gene:
Search GeneIP for patents involving MASP1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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MASP1 (Gene Symbol)
Mannan-Binding Lectin Serine Peptidase 1 (C4/C2 Activating Component Of Ra-Reactive Factor)
CRARF
PRSS5
MASP
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
CRARF1
RaRF
Ra-Reactive Factor Serine Protease P100
Mannan-Binding Lectin Serine Protease 1 (C4/C2 Activating Component Of Ra-Reactive Factor)
3MC1
MAP1
MASP3
MAp44
Mannan-Binding Lectin Serine Protease 1
EC 3.4.21.-
MASP-1
EC 3.4.21
EC 3.4.21.104
EC 3.4.21.42

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MASP1 Gene

mannan-binding lectin serine peptidase 1 (C4/C2 activating...

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