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
- Acts upstream of or within dorsal convergence. Predicted to be located in cytoplasm and cytoskeleton. Predicted to be part of MKS complex. 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