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 enable serine-type endopeptidase activity. Acts upstream of or within cranial skeletal system development; heart development; and neural crest cell migration. Located in cytoplasm. Is expressed in central nervous system; heart; and post-vent region. Human ortholog(s) of this gene implicated in 3MC syndrome 1. Orthologous to human MASP1 (MBL associated serine protease 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
No data available
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-masp1 | N/A | Rooryck et al., 2011 |
| MO2-masp1 | N/A | Rooryck et al., 2011 |
| MO3-masp1 | N/A | Choksi et al., 2014 |
| MO4-masp1 | N/A | Mortensen et al., 2017 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| 3MC syndrome 1 | Alliance | 3MC syndrome 1 | 257920 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | CUB domain | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like domain | NOTCH1 EGF-like calcium-binding domain | Peptidase S1A, chymotrypsin family | Peptidase S1A, complement C1r/C1S/mannan-binding | Peptidase S1, PA clan | Peptidase S1, PA clan, chymotrypsin-like fold | Serine proteases, trypsin domain | Serine proteases, trypsin family, serine active site | Spermadhesin, CUB domain superfamily | Sushi/SCR/CCP domain | Sushi/SCR/CCP superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A2R8QH04 | InterPro | 384 | ||||||||||||||
| UniProtKB:X1WH68 | InterPro | 740 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEYP-75C7 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001386256 (1) | 2916 nt | ||
| Genomic | GenBank:BX571739 (2) | 139312 nt | ||
| Polypeptide | UniProtKB:X1WH68 (1) | 740 aa |
- Ren, M., Chen, X., Dai, L., Tu, J., Hu, H., Sun, X., Luo, J., Li, P., Fu, Y., Zhu, Y., Sun, W., Tang, Z., Liu, M., Ren, X., Lu, Q. (2024) Knockout of dhx38 Causes Inner Ear Developmental Defects in Zebrafish. Biomedicines. 13:
- Pereiro, P., Rey-Campos, M., Figueras, A., Novoa, B. (2023) An environmentally relevant concentration of antibiotics impairs the immune system of zebrafish (Danio rerio) and increases susceptibility to virus infection. Frontiers in immunology. 13:11000921100092
- Li, L., Yang, W., Shen, Y., Xu, X., Li, J. (2020) Fish complement C8 evolution, functional network analyses, and the theoretical interaction between C8 alpha chain and CD59. Molecular immunology. 128:235-248
- Mortensen, S.A., Skov, L.L., Kjaer-Sorensen, K., Hansen, A.G., Hansen, S., Dagnæs-Hansen, F., Jensenius, J.C., Oxvig, C., Thiel, S., Degn, S.E. (2017) Endogenous Natural Complement Inhibitor Regulates Cardiac Development. Journal of immunology (Baltimore, Md. : 1950). 198(8):3118-3126
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Choksi, S.P., Babu, D., Lau, D., Yu, X., Roy, S. (2014) Systematic discovery of novel ciliary genes through functional genomics in the zebrafish. Development (Cambridge, England). 141:3410-9
- Rooryck, C., Diaz-Font, A., Osborn, D.P., Chabchoub, E., Hernandez-Hernandez, V., Shamseldin, H., Kenny, J., Waters, A., Jenkins, D., Kaissi, A.A., Leal, G.F., Dallapiccola, B., Carnevale, F., Bitner-Glindzicz, M., Lees, M., Hennekam, R., Stanier, P., Burns, A.J., Peeters, H., Alkuraya, F.S., and Beales, P.L. (2011) Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nature Genetics. 43(3):197-203
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