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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 **41 - 50** of **118** in total

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DO ID	Disease Name	Source
DOID:0110213	isolated cleft palate	DisGeNET
DOID:0111385	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1	DisGeNET
DOID:10003	sensorineural hearing loss	DisGeNET
DOID:10283	prostate cancer	DisGeNET DisGeNET
DOID:10286	prostate carcinoma	DisGeNET DisGeNET
DOID:10348	blepharophimosis	DisGeNET
DOID:104	bacterial infectious disease	DisGeNET
DOID:10426	Klippel-Feil syndrome	DisGeNET
DOID:1059	intellectual disability	DisGeNET
DOID:10652	Alzheimer's disease	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 58 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000126	Hydronephrosis
HP:0000175	Cleft palate
HP:0000202	Orofacial cleft
HP:0000204	Cleft upper lip
HP:0000252	Microcephaly
HP:0000260	Wide anterior fontanel
HP:0000316	Hypertelorism
HP:0000365	Hearing impairment
HP:0000369	Low-set ears

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	Alliance of Genome Resources	Orthologous MAtrix
Danio rerio	100002060	ZFIN:ZDB-GENE-110421-4
Astyanax mexicanus	103022902		ASTMX15544
Ictalurus punctatus	108278363		ICTPU10302
Esox lucius	105008657		ESOLU00556
Salmo trutta	115205811		SALTR112983
Gadus morhua	115528837		GADMO19034
Poecilia reticulata	103475256		POERE07094
Haplochromis burtoni	102289885		HAPBU29455
Xenopus laevis	398413	Xenbase:XB-GENE-984458
Xenopus laevis	398414	Xenbase:XB-GENE-17335616

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Other Information

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Summary

External Links

Annotation

PubChem Disease

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Acknowledgements