Gene
masp1
- ID
- ZDB-GENE-110421-4
- Name
- MBL associated serine protease 1
- Symbol
- masp1 Nomenclature History
- Previous Names
-
- si:dkeyp-75c7.1
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to have serine-type endopeptidase activity. Involved in cranial skeletal system development; heart development; and neural crest cell migration. Localizes to cytoplasm. Human ortholog(s) of this gene implicated in 3MC syndrome 1. Is expressed in central nervous system; heart; and post-vent region. Orthologous to human MASP1 (mannan binding lectin serine peptidase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| 3MC syndrome 1 | Alliance | 3MC syndrome 1 | 257920 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018097 | EGF-like calcium-binding, conserved site |
| Domain | IPR000436 | Sushi/SCR/CCP domain |
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR000859 | CUB domain |
| Domain | IPR001881 | EGF-like calcium-binding domain |
| Domain | IPR049883 | NOTCH1 EGF-like calcium-binding domain |
| Homologous_superfamily | IPR035914 | Spermadhesin, CUB domain superfamily |
| Homologous_superfamily | IPR035976 | Sushi/SCR/CCP superfamily |
Domain Details Per Protein
| Protein | Length | CUB domain | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like domain | NOTCH1 EGF-like calcium-binding domain | Spermadhesin, CUB domain superfamily | Sushi/SCR/CCP domain | Sushi/SCR/CCP superfamily |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A2R8QH04
|
384 |
Interactions and Pathways
No data available
Plasmids
No data available