MATCAP1
Mannan-binding lectin serine protease 1 associated protein 1
Gene Information Card
| Symbol | MATCAP1 |
|---|---|
| Full Name | Mannan-binding lectin serine protease 1 associated protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 64787 ncbi.nlm.nih.gov/gene/64787 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q9H8L6 |
| OMIM ID | 617060 |
| HGNC ID | 26169 |
| Aliases | MASP1-associated protein 1, MAP19, sMAP, MAp44 |
Description
MATCAP1 encodes a protein that associates with mannan-binding lectin serine protease 1 (MASP1) and modulates the lectin pathway of complement activation. The protein acts as a competitive inhibitor of MASP1 and MASP2, thereby regulating innate immune responses. Alternative splicing generates isoforms with distinct functional properties.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Complement deficiency | Dysregulation of lectin pathway due to altered MATCAP1 expression | PMID: 23364794 |
| Infectious diseases | Impaired innate immunity via MASP1/2 modulation | PMID: 25687273 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Heart | 6.1 | Low |
| Lung | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| A549 | 5.4 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.359G>A | Missense | <0.01% | p.Arg120Gln; uncertain significance |
| c.487C>T | Nonsense | <0.01% | p.Gln163*; predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons reduce protein levels and impair complement regulation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • endopeptidase inhibitor activity (GO:0004866) | • extracellular region (GO:0005576) |
| • complement activation (GO:0006956) | • regulation of complement activation (GO:0030449) |
Pathways
• Complement and coagulation cascades (KEGG: hsa04610)
• Lectin pathway of complement activation (Reactome: R-HSA-166662)
Protein Summary
MATCAP1 is a secreted protein of 19 kDa that contains a CUB domain and an EGF-like domain. It binds to MASP1 and MASP2, preventing their interaction with mannan-binding lectin and thereby inhibiting complement activation. The protein is primarily expressed in the liver and circulates in plasma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MATCAP1 Knockout HEK293 Cell Line | EDJ-KQ13417 | Human | 653319 | Details Get a Quote |
| MATCAP1 Knockout A-549 Cell Line | EDJ-KQ44158 | Human | 653319 | Details Get a Quote |
| MATCAP1 Knockout HCT 116 Cell Line | EDJ-KQ44160 | Human | 653319 | Details Get a Quote |
| MATCAP1 Knockout HeLa Cell Line | EDJ-KQ44161 | Human | 653319 | Details Get a Quote |
| MATCAP1 Knock-in HCT 116 Cell Line | EDC90202 | Human | 653319 | Details Get a Quote |
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