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. Predicted to localize to 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
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mks1 Human Ortholog
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
Associated With mks1 Via Experimental Models
Human Disease Fish Conditions Citations
ciliopathy WT + MO2-mks1 control Tobin et al., 2008
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR010796 B9 domain
Domain Details Per Protein
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations