Identity
HGNC
LOCATION
17p11.2
LOCUSID
ALIAS
B9,EPPB9,JBTS27,MKS9,MKSR-1,MKSR1
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: 27077
MIM: 614144
HGNC: 24123
Ensembl: ENSG00000108641
Variants:
dbSNP: 27077
ClinVar: 27077
TCGA: ENSG00000108641
COSMIC: B9D1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Organelle biogenesis and maintenance | REACTOME | R-HSA-1852241 |
| Cilium Assembly | REACTOME | R-HSA-5617833 |
| Anchoring of the basal body to the plasma membrane | REACTOME | R-HSA-5620912 |
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 |
| 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 |
| 21493627 | 2011 | B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. | 43 |
| 21493627 | 2011 | B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. | 43 |
| 19208769 | 2009 | Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. | 44 |
| 19208769 | 2009 | Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. | 44 |
| 18337471 | 2008 | Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis. | 64 |
| 18337471 | 2008 | Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis. | 64 |
Citation
Dessen P
B9D1 (B9 domain containing 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60691/b9d1-(b9-domain-containing-1)
