Basic information

Full name
mannan binding lectin serine peptidase 1
Ensembl
ENSG00000127241.17
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]
Annotation
Druggable target (Tier T4)

Protein product

  • ENST00000337774.9 Primary ENSP00000336792.5 (0 phosphosite)
  • ENST00000296280.11
  • ENST00000392472.6
  • ENST00000169293.10
  • ENST00000392470.6
Phosphosites on the primary protein product
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Tumor and normal comparison

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Signed p-values
Data type
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
RNA-1.7e-29-1.2e-9---1.3e-9-3.9e-29-1.2e-35--0.12-
protein-7.3e-41-3.3e-6---5.2e-16-2.7e-34-2.4e-34-0.18-4.3e-10

* P-values are from Wilcoxon rank sum test and can be clicked to show the box plots. Positive values mean higher abundance in tumor. BRCA and GBM do not have normal samples.

mRNA expression at gene level
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC01234567891011121314log2(RSEM+1)tumornormal
Protein expression
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC1718192021222324252627log2(MS1 intensity)tumornormal

* Mild outlier: filled circle; Extreme outlier: empty circle.

Phenotype and mutation association

Manhattan plot summarizing associations of phenotypes and mutations across all cohorts and omics data types

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC02468101214160-2-4-6-8-10-12-14-16Pan-cancer02468101214161820222426280-2-4-6-8-10-12-14-16-18-20-22-24-26-28proteinRNASCNVclinicalpathwaycell typegenomicmutation-log10 of P-value

* Data points of significant associations above and below the dotted lines can be hovered to show the phenotype.

Associations of the protein abundance of MASP1 with phenotypes and mutations

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Signed p-values
Phenotype
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
xcell: Endothelial cell5.2e-212.4e-51.9e-30.0440.997.8e-47.3e-91.8e-70.810.312.0e-6
HALLMARK_HYPOXIA1.3e-171.6e-74.8e-30.78-0.330.189.3e-42.6e-45.9e-36.3e-42.4e-7
HALLMARK_TNFA_SIGNALING_VIA_NFKB7.1e-171.0e-50.0930.21-0.221.8e-35.3e-51.4e-40.0132.6e-31.6e-4
HALLMARK_TGF_BETA_SIGNALING5.8e-161.6e-73.7e-30.420.830.422.1e-37.9e-38.6e-30.027.7e-7
HALLMARK_MYOGENESIS1.1e-131.3e-38.3e-30.085-0.360.0191.1e-40.0920.0395.2e-34.5e-5
HALLMARK_UV_RESPONSE_DN4.9e-136.6e-76.5e-30.47-0.0540.711.3e-59.5e-30.046.6e-31.9e-5
HALLMARK_EPITHELIAL_MESENCHYMAL_TRANSITION2e-124.4e-60.0640.2-0.0510.250.0150.020.0258.2e-47.4e-7
HALLMARK_KRAS_SIGNALING_UP2.4e-121.9e-100.030.23-0.120.0353.2e-40.0170.0470.822.2e-4
PROGENy: TGFb2.4e-123.0e-40.0770.220.950.554.7e-30.0230.0221.2e-32.0e-5
HALLMARK_APICAL_JUNCTION1.2e-115.1e-70.0590.25-0.440.0757.8e-30.720.0690.0034.9e-6
Showing 1 to 10 of 256 rows

* P-values could be from test for Spearman correlation, Wilcoxon rank sum test, Jonckheere-Terpstra trend test or Cox regression depending on the data type. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Cis-association

Associations between omics data of MASP1

BRCA0.43-0.03-0.03proteinmRNASCNVmethylationCCRCC0.35-0.120.12proteinmRNASCNVmethylationCOAD0.440.44-0.03proteinmRNASCNVmethylationGBM0.650.120.18proteinmRNASCNVmethylationHNSCC0.38-0.33-0.32proteinmRNASCNVmethylationLSCC0.39-0.25-0.05proteinmRNASCNVmethylationLUAD0.370.02-0.06proteinmRNASCNVmethylationOV0.070.03-0.08proteinmRNASCNVmethylationPDAC-0.020.12-0.02proteinmRNASCNVmethylationUCEC0.380.10-0.08proteinmRNASCNVmethylation

* The numbers are Spearman correlation coefficients and can be clicked to show the scatter plots. The color and size of the circles correlate with the coefficients.

Trans-association

Associations of the protein abundance of MASP1 and the protein abundance of other genes

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Signed p-values
Gene
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
No matching records found

* P-values are from test for Spearman correlation. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Gene set enrichment analysis

Submit genes and the common logarithm of the p-values of their association with to WebGestalt.