Identity
HGNC
LOCATION
17q22
LOCUSID
ALIAS
BBS13,JBTS28,MES,MKS,POC12
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 54903
MIM: 609883
HGNC: 7121
Ensembl: ENSG00000011143
Variants:
dbSNP: 54903
ClinVar: 54903
TCGA: ENSG00000011143
COSMIC: MKS1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32726168 | 2020 | Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is essential as a diffusion barrier for ciliary membrane proteins. | 13 |
| 32726168 | 2020 | Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is essential as a diffusion barrier for ciliary membrane proteins. | 13 |
| 26490104 | 2016 | MKS1 regulates ciliary INPP5E levels in Joubert syndrome. | 32 |
| 27340223 | 2016 | Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms. | 31 |
| 27570071 | 2016 | Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies. | 5 |
| 26490104 | 2016 | MKS1 regulates ciliary INPP5E levels in Joubert syndrome. | 32 |
| 27340223 | 2016 | Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms. | 31 |
| 27570071 | 2016 | Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies. | 5 |
| 24886560 | 2014 | Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. | 34 |
| 24886560 | 2014 | Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. | 34 |
| 21068128 | 2011 | Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. | 72 |
| 21068128 | 2011 | Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. | 72 |
| 19208769 | 2009 | Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. | 44 |
| 19515853 | 2009 | Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. | 79 |
| 19208769 | 2009 | Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. | 44 |
Citation
Dessen P
MKS1 (MKS transition zone complex subunit 1)
Atlas Genet Cytogenet Oncol Haematol. 2018-11-01
Online version: http://atlasgeneticsoncology.org/gene/57692/mks1-(mks-transition-zone-complex-subunit-1)
