MASP1

GENERAL INFORMATION

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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

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RNA tissue category

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

Protein evidence

Evidence at protein level

Protein localization

Expression in plasma, extracellular deposits and liver.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA001617 , HPA009641
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Small intestine

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (heart muscle, liver)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (cervix, uterine, endometrium)

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

5648

UniProt

P48740 (UniProt - Evidence at protein level)

neXtProt

NX_P48740

Antibodypedia

MASP1 antibodies


PROTEIN BROWSER

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ENST00000169293
 
ENST00000296280
 
ENST00000337774
 
ENST00000392470
 
ENST00000392472
 
ENST00000392475
 
ENST00000425937
 
ENST00000439271
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MASP1-001 ENSP00000336792
ENST00000337774
P48740
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Show » Show » 699 79.2 Yes 0
MASP1-002 ENSP00000169293
ENST00000169293
P48740
Show all »
Show » Show » 380 43.6 Yes 0
MASP1-003 ENSP00000296280
ENST00000296280
P48740
Show all »
Show » Show » 728 81.9 Yes 0
MASP1-004 ENSP00000376262
ENST00000392470
F8W876
Show all »
Show » Show » 354 40.6 No 0
MASP1-005 ENSP00000376264
ENST00000392472
P48740
Show all »
Show » Show » 615 68.9 No 0
MASP1-007 ENSP00000376267
ENST00000392475
C9JMA2
Show all »
Show » Show » 205 23.8 Yes 0
MASP1-008 ENSP00000412021
ENST00000439271
C9J1C7
Show all »
Show » 118 13.6 Yes 0
MASP1-010 ENSP00000409047
ENST00000425937
C9JLU5
Show all »
Show » 55 6.5 No 0