POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-))
2016-10-01 Affiliation
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: 55624
MIM: 606822
HGNC: 19139
Ensembl: ENSG00000085998
Variants:
dbSNP: 55624
ClinVar: 55624
TCGA: ENSG00000085998
COSMIC: POMGNT1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000085998 | ENST00000371984 | Q8WZA1 |
| ENSG00000085998 | ENST00000371992 | Q8WZA1 |
| ENSG00000085998 | ENST00000396420 | Q68CV6 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35843586 | 2022 | Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus. | 0 |
| 35843586 | 2022 | Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus. | 0 |
| 33175337 | 2021 | Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy. | 5 |
| 33610554 | 2021 | Glycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell-cell adhesion. | 4 |
| 33175337 | 2021 | Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy. | 5 |
| 33610554 | 2021 | Glycosyltransferase POMGNT1 deficiency strengthens N-cadherin-mediated cell-cell adhesion. | 4 |
| 32306360 | 2020 | FAM3B/PANDER-Like Carbohydrate-Binding Domain in a Glycosyltransferase, POMGNT1. | 2 |
| 32306360 | 2020 | FAM3B/PANDER-Like Carbohydrate-Binding Domain in a Glycosyltransferase, POMGNT1. | 2 |
| 29555514 | 2018 | Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa. | 0 |
| 29555514 | 2018 | Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa. | 0 |
| 28765568 | 2017 | Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing. | 9 |
| 29048655 | 2017 | PomGnT1 enhances temozolomide resistance by activating epithelial-mesenchymal transition signaling in glioblastoma. | 9 |
| 28765568 | 2017 | Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing. | 9 |
| 29048655 | 2017 | PomGnT1 enhances temozolomide resistance by activating epithelial-mesenchymal transition signaling in glioblastoma. | 9 |
| 26783077 | 2016 | Generalization of Rare Variant Association Tests for Longitudinal Family Studies. | 4 |
Citation
Dessen P
POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-))
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56373/chromosome-explorer/gene-explorer/
