Identity
HGNC
LOCATION
3q13.33
LOCUSID
ALIAS
C3orf9,CLP46,KDELCL1,KTELC1,LGMD2Z,LGMDR21,MDS010,MDSRP,Rumi,hCLP46
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: 56983
MIM: 615618
HGNC: 22954
Ensembl: ENSG00000163389
Variants:
dbSNP: 56983
ClinVar: 56983
TCGA: ENSG00000163389
COSMIC: POGLUT1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31897643 | 2020 | POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern. | 18 |
| 31897643 | 2020 | POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern. | 18 |
| 30643196 | 2019 | POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33. | 12 |
| 30653241 | 2019 | A Japanese Case of Galli-Galli Disease due to a Previously Unreported POGLUT1 Mutation. | 6 |
| 30643196 | 2019 | POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33. | 12 |
| 30653241 | 2019 | A Japanese Case of Galli-Galli Disease due to a Previously Unreported POGLUT1 Mutation. | 6 |
| 29569780 | 2018 | A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling-Degos disease. | 4 |
| 29953591 | 2018 | RUMI is a novel negative prognostic marker and therapeutic target in non-small-cell lung cancer. | 7 |
| 29569780 | 2018 | A new nonsense mutation in the POGLUT1 gene in two sisters with Dowling-Degos disease. | 4 |
| 29953591 | 2018 | RUMI is a novel negative prognostic marker and therapeutic target in non-small-cell lung cancer. | 7 |
| 27479915 | 2017 | Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease. | 7 |
| 28481732 | 2017 | Human CAP10-Like Protein 46 kDa Gene Promotes Malignancy in Colorectal Cancer. | 1 |
| 29034878 | 2017 | Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi). | 9 |
| 27479915 | 2017 | Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease. | 7 |
| 28481732 | 2017 | Human CAP10-Like Protein 46 kDa Gene Promotes Malignancy in Colorectal Cancer. | 1 |
Citation
Dessen P
POGLUT1 (protein O-glucosyltransferase 1)
Atlas Genet Cytogenet Oncol Haematol. 2011-08-01
Online version: http://atlasgeneticsoncology.org/gene/52339/poglut1
