MKS1
MKS Transition Zone Complex Subunit 1
Gene Information Card
| Symbol | MKS1 |
|---|---|
| Full Name | MKS Transition Zone Complex Subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q22 |
| NCBI Gene ID | 54903 ncbi.nlm.nih.gov/gene/54903 |
| Ensembl ID | ENSG00000108474 |
| UniProt ID | Q9NXB0 |
| OMIM ID | 609883 |
| HGNC ID | 7121 |
| Aliases | BBS13, FLJ20345, MKS, POC12 |
Description
MKS1 encodes a component of the ciliary transition zone, a protein complex essential for ciliogenesis and ciliary protein trafficking. Mutations in MKS1 cause Meckel syndrome type 1, Joubert syndrome, and Bardet-Biedl syndrome, all of which are ciliopathies characterized by renal, retinal, and neural defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Meckel syndrome type 1 | Loss of MKS1 disrupts transition zone assembly, impairing ciliary signaling and leading to developmental defects | OMIM #249000 |
| Joubert syndrome 28 | MKS1 mutations cause defective ciliary gate function, resulting in cerebellar and retinal anomalies | OMIM #617121 |
| Bardet-Biedl syndrome 13 | MKS1 interacts with BBS proteins; loss disrupts ciliary transport and causes obesity, retinopathy, and polydactyly | OMIM #615990 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 14.2 | Medium |
| Kidney | 8.5 | Low |
| Brain | 6.1 | Low |
| Liver | 4.3 | Low |
| Lung | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | High expression in embryonic kidney cells |
| HeLa | 8.5 | Moderate expression |
| HepG2 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1408C>T (p.Arg470Ter) | Nonsense | Reported in Meckel syndrome | Loss of function |
| c.1195C>T (p.Arg399Trp) | Missense | Rare in Joubert syndrome | Hypomorphic |
| c.1351C>T (p.Arg451Cys) | Missense | Found in Bardet-Biedl syndrome | Likely damaging |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause complete loss of MKS1 protein, leading to severe Meckel syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported for MKS1.
Dominant Negative (DN)
No dominant-negative mutations reported; MKS1 acts recessively.
View complete mutation data：
Gene Ontology (GO)
| • Ciliary transition zone | • Cilium assembly |
| • Protein localization to cilium | • Cell projection organization |
Pathways
• Ciliopathy pathway
• Hedgehog signaling pathway
Protein Summary
MKS1 is a 559-amino-acid protein localized to the ciliary transition zone. It contains a B9 domain and coiled-coil regions, mediating interactions with other transition zone components such as TCTN1 and TMEM216. MKS1 is required for proper ciliary membrane composition and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MKS1 Knockout HEK293 Cell Line | EDJ-KQ5219 | Human | 54903 | Details Get a Quote |
| MKS1 Knockout A-549 Cell Line | EDJ-KQ28233 | Human | 54903 | Details Get a Quote |
| MKS1 Knockout HCT 116 Cell Line | EDJ-KQ28234 | Human | 54903 | Details Get a Quote |
| MKS1 Knockout HeLa Cell Line | EDJ-KQ28235 | Human | 54903 | Details Get a Quote |
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