• Gene id: 5648

Gene Summary

• Gene Symbol: MASP1   Gene   UCSC   Ensembl
• Aliases: 3MC1, CRARF, CRARF1, MAP1, MASP, MASP3, MAp44, PRSS5, RaRF
• Gene name: mannan binding lectin serine peptidase 1
• Alternate names: mannan-binding lectin serine protease 1, 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 protea,
• Gene location: 3q27.3 (187293528: 187216084)     Exons: 7     NC_000003.12
• Gene summary(Entrez): 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 an
• OMIM: 600521

SNPs

rs3105782

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.187253508A>G
NC_000003.11   g.186971296A>G
NG_029440.1   g.43515T>C|SEQ=[A/G]|GENE=MASP1

Protein Summary

• Protein general information: P48740  
  • Name: Mannan binding lectin serine protease 1 (EC 3.4.21. ) (Complement factor MASP 3) (Complement activating component of Ra reactive factor) (Mannose binding lectin associated serine protease 1) (MASP 1) (Mannose binding protein associated serine protease) (R
  • Length: 699  
  • Mass: 79247
  • Tissue specificity: Protein of the plasma which is primarily expressed by liver. {ECO
• Sequence:

  MRWLLLYYALCFSLSKASAHTVELNNMFGQIQSPGYPDSYPSDSEVTWNITVPDGFRIKLYFMHFNLESSYLCEY
  DYVKVETEDQVLATFCGRETTDTEQTPGQEVVLSPGSFMSITFRSDFSNEERFTGFDAHYMAVDVDECKEREDEE
  LSCDHYCHNYIGGYYCSCRFGYILHTDNRTCRVECSDNLFTQRTGVITSPDFPNPYPKSSECLYTIELEEGFMVN
  LQFEDIFDIEDHPEVPCPYDYIKIKVGPKVLGPFCGEKAPEPISTQSHSVLILFHSDNSGENRGWRLSYRAAGNE
  CPELQPPVHGKIEPSQAKYFFKDQVLVSCDTGYKVLKDNVEMDTFQIECLKDGTWSNKIPTCKIVDCRAPGELEH
  GLITFSTRNNLTTYKSEIKYSCQEPYYKMLNNNTGIYTCSAQGVWMNKVLGRSLPTCLPVCGLPKFSRKLMARIF
  NGRPAQKGTTPWIAMLSHLNGQPFCGGSLLGSSWIVTAAHCLHQSLDPEDPTLRDSDLLSPSDFKIILGKHWRLR
  SDENEQHLGVKHTTLHPQYDPNTFENDVALVELLESPVLNAFVMPICLPEGPQQEGAMVIVSGWGKQFLQRFPET
  LMEIEIPIVDHSTCQKAYAPLKKKVTRDMICAGEKEGGKDACAGDSGGPMVTLNRERGQWYLVGTVSWGDDCGKK
  DRYGVYSYIHHNKDWIQRVTGVRN

• Structural information:
  • Protein Domains: (20..13-)
    (/note="CUB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00059-)
    (139..18-)
    (/note="EGF-lik-)
    (-)
    (185..29-)
    (/note="CUB-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00059-)
    (299..36-)
    (/note="Sushi-1)
    (-)
  • Interpro: IPR000859  IPR001881  IPR013032  IPR018097  IPR009003   IPR001314  IPR035914  IPR035976  IPR000436  IPR001254  IPR018114  IPR033116  
  • Prosite: PS00010 PS01180 PS01186 PS01187 PS50923 PS50240 PS00134 PS00135
  • CDD: cd00033 cd00041 cd00190
  • PDB: 3DEM 3GOV 4AQB 4DJZ 4IGD 4IW4 4KKD
  • PDBsum: 3DEM 3GOV 4AQB 4DJZ 4IGD 4IW4 4KKD
  • DIP: 61382
• Other Databases: GeneCards:  MASP1  Malacards:  MASP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001867	complement activation, lectin pathway	IBA	biological process
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0001867	complement activation, lectin pathway	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0006956	complement activation	TAS	biological process
GO:0001867	complement activation, lectin pathway	TAS	biological process
GO:0001867	complement activation, lectin pathway	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0001867	complement activation, lectin pathway	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0008233	peptidase activity	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0008233	peptidase activity	IDA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0001867	complement activation, lectin pathway	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05150	Staphylococcus aureus infection
hsa04610	Complement and coagulation cascades

Diseases

Associated diseases	References
3MC syndrome	KEGG:H01887
Azoospermia	MIK: 19478329
Oligozoospermia	MIK: 19478329
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
19478329	Azoospermia, Oligozoospermia	rs3105782	Caucasi an	42 cases	Male infertility	GWAS