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MBL associated serine protease 1

Summary

Gene Symbol

MASP1

Aliases

C4/C2 activating component of Ra-reactive factor
MAP-1
MASP
MASP-3
Map44
mannose-binding lectin-associated serine protease 1

Organism

Homo sapiens (human)

External Links

NCBI Gene

5648

HGNC

6901

KEGG Gene ID

hsa:5648

PubChem

5648

Alliance of Genome Resources

HGNC:6901

Annotation

Keyword

3D-structure
Alternative splicing
Autocatalytic cleavage
Calcium
Complement activation lectin pathway
Direct protein sequencing
Disease variant
Disulfide bond
EGF-like domain
Glycoprotein
Hydroxylation
Metal-binding
Reference proteome
Repeat
Secreted
Serine protease
Signal
Sushi

Proteins

Displaying 1 entry
UniProt	Protein Name
P48740	Complement factor MASP-3 Complement-activating component of Ra-reactive factor Mannose-binding lectin-associated serine protease 1 Mannose-binding protein-associated serine protease Ra-reactive factor serine protease p100 Serine protease 5

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 3** entries
GO Term	Evidence Code	PMID
complement activation, lectin pathway	IBA IMP	17182967
zymogen activation	IBA
negative regulation of complement activation	IDA	11485744

GO Hierarchy

biological process

immune system process [inference]

immune effector process [inference]

complement activation [inference]

complement activation, lectin pathway

activation of immune response [inference]

complement activation [inference]

complement activation, lectin pathway

immune response [inference]

humoral immune response [inference]

complement activation [inference]

complement activation, lectin pathway

innate immune response [inference]

complement activation, lectin pathway

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

protein processing [inference]

zymogen activation

protein maturation [inference]

protein processing [inference]

zymogen activation

primary metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

protein processing [inference]

zymogen activation

protein maturation [inference]

protein processing [inference]

zymogen activation

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

protein processing [inference]

zymogen activation

protein maturation [inference]

protein processing [inference]

zymogen activation

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis [inference]

protein processing [inference]

zymogen activation

protein maturation [inference]

protein processing [inference]

zymogen activation

biological process involved in interspecies interaction between organisms [inference]

response to other organism [inference]

defense response to other organism [inference]

innate immune response [inference]

complement activation, lectin pathway

response to stimulus [inference]

response to stress [inference]

defense response [inference]

defense response to other organism [inference]

innate immune response [inference]

complement activation, lectin pathway

immune response [inference]

humoral immune response [inference]

complement activation [inference]

complement activation, lectin pathway

innate immune response [inference]

complement activation, lectin pathway

response to external stimulus [inference]

response to external biotic stimulus [inference]

response to other organism [inference]

defense response to other organism [inference]

innate immune response [inference]

complement activation, lectin pathway

response to biotic stimulus [inference]

response to external biotic stimulus [inference]

response to other organism [inference]

defense response to other organism [inference]

innate immune response [inference]

complement activation, lectin pathway

biological regulation [inference]

regulation of biological process [inference]

regulation of immune system process [inference]

negative regulation of immune system process [inference]

negative regulation of immune effector process [inference]

negative regulation of complement activation

negative regulation of immune response [inference]

negative regulation of humoral immune response [inference]

negative regulation of complement activation

positive regulation of immune system process [inference]

positive regulation of immune response [inference]

activation of immune response [inference]

complement activation [inference]

complement activation, lectin pathway

regulation of immune effector process [inference]

negative regulation of immune effector process [inference]

negative regulation of complement activation

regulation of complement activation [inference]

negative regulation of complement activation

regulation of immune response [inference]

regulation of humoral immune response [inference]

negative regulation of humoral immune response [inference]

negative regulation of complement activation

regulation of complement activation [inference]

negative regulation of complement activation

negative regulation of immune response [inference]

negative regulation of humoral immune response [inference]

negative regulation of complement activation

positive regulation of immune response [inference]

activation of immune response [inference]

complement activation [inference]

complement activation, lectin pathway

positive regulation of biological process [inference]

positive regulation of immune system process [inference]

positive regulation of immune response [inference]

activation of immune response [inference]

complement activation [inference]

complement activation, lectin pathway

positive regulation of response to stimulus [inference]

positive regulation of immune response [inference]

activation of immune response [inference]

complement activation [inference]

complement activation, lectin pathway

negative regulation of biological process [inference]

negative regulation of immune system process [inference]

negative regulation of immune effector process [inference]

negative regulation of complement activation

negative regulation of immune response [inference]

negative regulation of humoral immune response [inference]

negative regulation of complement activation

negative regulation of response to stimulus [inference]

negative regulation of immune response [inference]

negative regulation of humoral immune response [inference]

negative regulation of complement activation

regulation of response to stimulus [inference]

positive regulation of response to stimulus [inference]

positive regulation of immune response [inference]

activation of immune response [inference]

complement activation [inference]

complement activation, lectin pathway

negative regulation of response to stimulus [inference]

negative regulation of immune response [inference]

negative regulation of humoral immune response [inference]

negative regulation of complement activation

regulation of immune response [inference]

regulation of humoral immune response [inference]

negative regulation of humoral immune response [inference]

negative regulation of complement activation

regulation of complement activation [inference]

negative regulation of complement activation

negative regulation of immune response [inference]

negative regulation of humoral immune response [inference]

negative regulation of complement activation

positive regulation of immune response [inference]

activation of immune response [inference]

complement activation [inference]

complement activation, lectin pathway

Displaying **all 4** entries
GO Term	Evidence Code	PMID
extracellular region	TAS
nucleoplasm	IDA
extracellular space	IBA IDA	11485744
cytosol	IDA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
protein binding	IPI	10946292 11290788 11485744 11907111 18177377 19939495 20956340 21035894 22607836 22854970 23785123 23861840 24174618 25579818 27104295 32041782
calcium-dependent protein binding	IPI	12421953 18596036
identical protein binding	IPI	22854970 23785123
peptidase activity	IDA	10946292 12538697
calcium ion binding	IDA	18596036

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

peptidase activity

endopeptidase activity [inference]

serine-type endopeptidase activity

serine-type peptidase activity [inference]

serine-type endopeptidase activity

serine hydrolase activity [inference]

serine-type peptidase activity [inference]

serine-type endopeptidase activity

catalytic activity, acting on a protein [inference]

peptidase activity

endopeptidase activity [inference]

serine-type endopeptidase activity

serine-type peptidase activity [inference]

serine-type endopeptidase activity

binding [inference]

protein binding

identical protein binding

protein homodimerization activity

protein dimerization activity [inference]

protein homodimerization activity

calcium-dependent protein binding

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

calcium ion binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Mannan-binding lectin serine protease 1

Functional Category

G: Carbohydrate transport and metabolism
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 8** entries
Gene Ontology
calcium ion binding
complement activation, lectin pathway
complement activation
hydrolase activity
metal ion binding
proteolysis
serine-type endopeptidase activity
serine-type peptidase activity

Displaying entries **1 - 10** of 12 in total

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InterPro
CUB domain
EGF-like calcium-binding domain
EGF-like calcium-binding, conserved site
Peptidase S1, PA clan, chymotrypsin-like fold
Peptidase S1, PA clan
Peptidase S1A, chymotrypsin family
Peptidase S1A, complement C1r/C1S/mannan-binding
Serine proteases, trypsin domain
Serine proteases, trypsin family, serine active site
Spermadhesin, CUB domain superfamily

Disease

The Human Phenotype Ontology

Displaying entries **11 - 20** of 58 in total

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HPO ID	HPO Term
HP:0000377	Abnormal pinna morphology
HP:0000405	Conductive hearing impairment
HP:0000494	Downslanted palpebral fissures
HP:0000496	Abnormality of eye movement
HP:0000501	Glaucoma
HP:0000506	Telecanthus
HP:0000508	Ptosis
HP:0000524	Conjunctival telangiectasia
HP:0000537	Epicanthus inversus
HP:0000581	Blepharophimosis

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:293843	3MC syndrome
OMIM:257920	3MC syndrome 1

PubChem Disease

GHR Health Conditions

3MC syndrome

MedGen Diseases

3MC syndrome 1

OMIM Phenotypes

3MC SYNDROME 1; 3MC1

KEGG Diseases

3MC syndrome

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Monodelphis domestica	100012016			MONDO31913
Xenopus tropicalis	100038300		Xenbase:XB-GENE-984453
Equus caballus	100068261			HORSE14129
Ornithorhynchus anatinus	100082252			ORNAN25025
Sus scrofa	100152125			PIGXX05348
Taeniopygia guttata	100231782			TAEGU30129
Callithrix jacchus	100407253			CALJA11916
Pongo abelii	100439814	9601_0:000f1f		PONAB25475
Meleagris gallopavo	100551064			MELGA02751
Nomascus leucogenys	100601109			NOMLE02889

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Summary

External Links

Annotation

OrthoDB (Group)

PubChem Disease

International Collaboration

Acknowledgements