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

protein processing [inference]

zymogen activation

protein maturation [inference]

protein processing [inference]

zymogen activation

primary metabolic process [inference]

protein metabolic process [inference]

proteolysis

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

protein processing [inference]

zymogen activation

protein maturation [inference]

protein processing [inference]

zymogen activation

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis

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

GO Hierarchy

cellular component

cellular anatomical entity [inference]

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
serine-type endopeptidase activity	IDA	11527969
serine-type endopeptidase activity	IBA
calcium ion binding	IDA	18596036
protein binding	IPI	10946292 11290788 11485744 11907111 18177377 19939495 20956340 21035894 22607836 22854970 23785123 23861840 24174618 25579818 27104295 32041782
peptidase activity	IDA	10946292 12538697

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

Functional Category

K: Transcription
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 9** entries
Gene Ontology
calcium ion binding
complement activation, lectin pathway
complement activation
hydrolase activity
immune system process
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

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0060575	3MC syndrome 1	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **21 - 30** of 58 in total

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HPO ID	HPO Term
HP:0000593	Abnormal anterior chamber morphology
HP:0000664	Synophrys
HP:0000678	Dental crowding
HP:0000960	Sacral dimple
HP:0001249	Intellectual disability
HP:0001256	Intellectual disability, mild
HP:0001363	Craniosynostosis
HP:0001510	Growth delay
HP:0001537	Umbilical hernia
HP:0001539	Omphalocele

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

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 **1 - 10** of 75 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	5648	Xenbase:XB-GENE-984453
Mus musculus	17174	Xenbase:XB-GENE-984453	MOUSE19135
Rattus norvegicus	64023	Xenbase:XB-GENE-984453	RATNO03703
Canis lupus familiaris	488121		CANLF13568
Bos taurus	522347		BOVIN14807
Macaca mulatta	708206		MACMU29120
Oryctolagus cuniculus	100009493		RABIT04670
Monodelphis domestica	100012016		MONDO31913
Equus caballus	100068261		HORSE14129
Ornithorhynchus anatinus	100082252		ORNAN25025

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Summary

External Links

Annotation

OrthoDB (Group)

PubChem Disease

International Collaboration

Acknowledgements