Gene
mks1
- ID
- ZDB-GENE-030131-3813
- Name
- MKS transition zone complex subunit 1
- Symbol
- mks1 Nomenclature History
- Previous Names
-
- fc54h05
- si:dkey-189h5.2
- wu:fc54h05
- zgc:153149
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Involved in dorsal convergence. Used to study ciliopathy. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 13; Joubert syndrome 28; and Meckel syndrome 1. Orthologous to human MKS1 (MKS transition zone complex subunit 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 |
|---|---|---|---|
| Bardet-Biedl syndrome 13 | Alliance | Bardet-Biedl syndrome 13 | 615990 |
| Joubert syndrome 28 | Alliance | Joubert syndrome 28 | 617121 |
| Meckel syndrome 1 | Alliance | Meckel syndrome 1 | 249000 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| ciliopathy | WT + MO2-mks1 | control | Tobin et al., 2008 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR010796 | B9-type C2 domain |
Domain Details Per Protein
| Protein | Length | B9-type C2 domain |
|---|---|---|
|
UniProtKB:Q08BN0
|
||
|
UniProtKB:A3QK09
|
559 |
Interactions and Pathways
No data available
Plasmids
No data available