Tissue expression of MASP1 - Summary - The Human Protein Atlas

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MASP1

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TISSUE

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CELL

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	MASP1
Gene description	Mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
Protein class	Disease related genes Enzymes Plasma proteins Potential drug targets Predicted intracellular proteins Predicted secreted proteins
Predicted localization	Intracellular,Secreted
Number of transcripts	8
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enhanced (cervix, uterine)
GTEx:	Tissue enhanced (cervix, uterine, endometrium)
FANTOM5:	Group enriched (liver, cervix, uterine, endometrium, heart muscle)

Protein evidence

Evidence at protein level

Protein expression

Extracellular and plasma positivity in several tissues.

DATA RELIABILITY
Data reliability description	Secreted protein, tissue location of RNA and protein might differ and correlation is complex. External characterization data supports antibody staining.
Reliability score	Supported based on 1 antibody. HPA001617
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

Small intestine

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (cervix, uterine)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (cervix, uterine, endometrium)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Group enriched (liver, cervix, uterine, endometrium, heart muscle)

GENE INFORMATION
Gene name	MASP1 (HGNC Symbol)
Synonyms	CRARF, MASP, PRSS5
Description	Mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (HGNC Symbol)
Entrez gene summary	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 and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
Chromosome	3
Cytoband	q27.3
Chromosome location (bp)	187217285 - 187292022
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000127241 (version 83.38)
Entrez gene	5648
UniProt	P48740 (UniProt - Evidence at protein level)
neXtProt	NX_P48740
Antibodypedia	MASP1 antibodies

PROTEIN BROWSER

MASP1-001	MASP1-002	MASP1-003	MASP1-004	MASP1-005	MASP1-007	MASP1-008	MASP1-010

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
MASP1-001 ENSP00000336792 ENST00000337774	P48740 [Direct mapping] Mannan-binding lectin serine protease 1 Mannan-binding lectin serine protease 1 heavy chain Mannan-binding lectin serine protease 1 light chain Show all	Enzymes Peptidases Serine-type peptidases MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001867 [complement activation, lectin pathway] GO:0004252 [serine-type endopeptidase activity] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005615 [extracellular space] GO:0006508 [proteolysis] GO:0006898 [receptor-mediated endocytosis] GO:0006956 [complement activation] GO:0008233 [peptidase activity] GO:0042803 [protein homodimerization activity] GO:0045087 [innate immune response] GO:0045916 [negative regulation of complement activation] GO:0048306 [calcium-dependent protein binding] Show all	699 aa 79.2 kDa	Yes	0
MASP1-002 ENSP00000169293 ENST00000169293	P48740 [Direct mapping] Mannan-binding lectin serine protease 1 Mannan-binding lectin serine protease 1 heavy chain Mannan-binding lectin serine protease 1 light chain Show all	Enzymes Peptidases Serine-type peptidases MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001867 [complement activation, lectin pathway] GO:0004252 [serine-type endopeptidase activity] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005615 [extracellular space] GO:0006508 [proteolysis] GO:0006898 [receptor-mediated endocytosis] GO:0006956 [complement activation] GO:0008233 [peptidase activity] GO:0042803 [protein homodimerization activity] GO:0045087 [innate immune response] GO:0045916 [negative regulation of complement activation] GO:0048306 [calcium-dependent protein binding] Show all	380 aa 43.6 kDa	Yes	0
MASP1-003 ENSP00000296280 ENST00000296280	P48740 [Direct mapping] Mannan-binding lectin serine protease 1 Mannan-binding lectin serine protease 1 heavy chain Mannan-binding lectin serine protease 1 light chain Show all	Enzymes Peptidases Serine-type peptidases MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001867 [complement activation, lectin pathway] GO:0004252 [serine-type endopeptidase activity] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005615 [extracellular space] GO:0006508 [proteolysis] GO:0006898 [receptor-mediated endocytosis] GO:0006956 [complement activation] GO:0008233 [peptidase activity] GO:0042803 [protein homodimerization activity] GO:0045087 [innate immune response] GO:0045916 [negative regulation of complement activation] GO:0048306 [calcium-dependent protein binding] Show all	728 aa 81.9 kDa	Yes	0
MASP1-004 ENSP00000376262 ENST00000392470	F8W876 [Direct mapping] Mannan-binding lectin serine protease 1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005509 [calcium ion binding] Show all	354 aa 40.6 kDa	No	0
MASP1-005 ENSP00000376264 ENST00000392472	P48740 [Direct mapping] Mannan-binding lectin serine protease 1 Mannan-binding lectin serine protease 1 heavy chain Mannan-binding lectin serine protease 1 light chain Show all	Enzymes Peptidases Serine-type peptidases Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0001867 [complement activation, lectin pathway] GO:0004252 [serine-type endopeptidase activity] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005576 [extracellular region] GO:0005615 [extracellular space] GO:0006508 [proteolysis] GO:0006898 [receptor-mediated endocytosis] GO:0006956 [complement activation] GO:0008233 [peptidase activity] GO:0042803 [protein homodimerization activity] GO:0045087 [innate immune response] GO:0045916 [negative regulation of complement activation] GO:0048306 [calcium-dependent protein binding] Show all	615 aa 68.9 kDa	No	0
MASP1-007 ENSP00000376267 ENST00000392475	C9JMA2 [Direct mapping] Mannan-binding lectin serine protease 1 Show all	MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005509 [calcium ion binding] Show all	205 aa 23.8 kDa	Yes	0
MASP1-008 ENSP00000412021 ENST00000439271	C9J1C7 [Direct mapping] Mannan-binding lectin serine protease 1 Show all	MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all		118 aa 13.6 kDa	Yes	0
MASP1-010 ENSP00000409047 ENST00000425937	C9JLU5 [Direct mapping] Mannan-binding lectin serine protease 1 Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all		55 aa 6.5 kDa	No	0

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The Human Protein Atlas

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