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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 2** entries
GO Term	Evidence Code	PMID
complement activation, lectin pathway	IBA IMP	17182967
zymogen activation	IBA

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]

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 response [inference]

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

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

regulation of immune response [inference]

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
cytosol	IDA
extracellular region
extracellular space	IBA IDA	11485744
nucleoplasm	IDA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
protein homodimerization activity	IPI	18596036
peptidase activity	IDA	10946292 12538697
serine-type endopeptidase activity	IBA IDA	11527969
calcium ion binding	IDA	18596036
calcium-dependent protein binding	IPI	12421953 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 [inference]

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.

Disease

Disease Ontology

Displaying entries **11 - 20** of **118** in total

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DO ID	Disease Name	Source
DOID:0060321	umbilical hernia	DisGeNET DisGeNET
DOID:0060327	omphalocele	DisGeNET DisGeNET
DOID:0060467	humeroradial synostosis	DisGeNET
DOID:0060538	purpura fulminans	DisGeNET
DOID:0060575	3MC syndrome 1	DisGeNET Alliance of Genome Resources
DOID:0060576	3MC syndrome 2	DisGeNET
DOID:0060577	3MC syndrome 3	DisGeNET
DOID:0080073	spina bifida occulta	DisGeNET
DOID:0080301	atypical hemolytic-uremic syndrome	DisGeNET
DOID:0080348	Alzheimer's disease 1	DisGeNET

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

Displaying entries **41 - 50** of 78 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Cricetulus griseus	100774526		CRIGR00914
Mus musculus	17174	MGI:88492	MOUSE19135
Rattus norvegicus	64023	RGD:620213	RATNO03703
Cavia porcellus	100730575		CAVPO04369
Octodon degus	101571926		OCTDE19382
Melopsittacus undulatus	101872767		MELUD15699
Monodelphis domestica	100012016		MONDO31913
Ursus maritimus	103676043		URSMA08560
Bos indicus x Bos taurus	113890940		BOBOX29448
Chinchilla lanigera	102025802		CHILA06023

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Summary

External Links

Annotation

PubChem Disease

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Acknowledgements