MKS1 Gene Summary [Human]
The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Details
| Type | Retained Intron |
| Official Symbol | MKS1 |
| Official Name | MKS transition zone complex subunit 1 [Source:HGNC Symbol;Acc:HGNC:7121] |
| Ensembl ID | ENSG00000011143 |
| Bio databases IDs | |
| Aliases | MKS transition zone complex subunit 1, POC12 centriolar protein homolog (Chlamydomonas) |
| Synonyms | avc6, B8d3, BBS13, JBTS28, MES, MKS, MKS transition zone complex subunit 1, POC12 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MKS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ciliary basal body-associated, B9 protein
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Bardet-Biedl syndrome type 13
- Meckel syndrome type 1
- hereditary disorder
- MKS1-related disorder
- Joubert syndrome type 1
- Joubert syndrome type 28
- Bardet-Biedl syndrome
- Meckel syndrome
- hereditary spastic ataxia
- ciliopathy
role in cell
- formation in
- quantity
- formation
- assembly
- organization
- branching morphogenesis in
- ciliogenesis in
- positioning in
- positioning
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- ciliary transition zone
- cell borders
- intracellular space
- cellular membrane
- basal bodies
- centrosome
- centriole
- cytosol
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MKS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- inner ear receptor stereocilium organization
- head development
- cilium morphogenesis
- regulation of Wnt receptor signaling pathway, planar cell polarity pathway
- smoothened receptor signaling pathway involved in regulation of secondary heart field cardioblast proliferation
- common bile duct development
- branching morphogenesis of a tube
- cardiac septum morphogenesis
- motile cilium assembly
- embryonic skeletal system development
- determination of left/right symmetry
- regulation of smoothened signaling pathway
- embryonic digit morphogenesis
- neural tube closure
- epithelial structure maintenance
- regulation of canonical Wnt receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- centrosome
- cilium basal body
- centriole
- cytoplasm
- membrane
- cytosol
- TCTN-B9D complex
Molecular Function
What the gene product does at the molecular level
- protein binding