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: 5236
MIM: 171900
HGNC: 8905
Ensembl: ENSG00000079739
Variants:
dbSNP: 5236
ClinVar: 5236
TCGA: ENSG00000079739
COSMIC: PGM1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000079739 | ENST00000371083 | P36871 |
| ENSG00000079739 | ENST00000371084 | P36871 |
| ENSG00000079739 | ENST00000540265 | P36871 |
| ENSG00000079739 | ENST00000650546 | A0A3B3ITK7 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA166186245 | acetaldehyde | Chemical | ClinicalAnnotation | associated | PK | 31002879 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36947965 | 2023 | Knock-down of PGM1 inhibits cell viability, glycolysis, and oxidative phosphorylation in glioma under low glucose condition via the Myc signaling pathway. | 2 |
| 36947965 | 2023 | Knock-down of PGM1 inhibits cell viability, glycolysis, and oxidative phosphorylation in glioma under low glucose condition via the Myc signaling pathway. | 2 |
| 35506765 | 2022 | Effects of the T337M and G391V disease-related variants on human phosphoglucomutase 1: structural disruptions large and small. | 0 |
| 35506765 | 2022 | Effects of the T337M and G391V disease-related variants on human phosphoglucomutase 1: structural disruptions large and small. | 0 |
| 32898648 | 2021 | Enzyme dysfunction at atomic resolution: Disease-associated variants of human phosphoglucomutase-1. | 5 |
| 32898648 | 2021 | Enzyme dysfunction at atomic resolution: Disease-associated variants of human phosphoglucomutase-1. | 5 |
| 32057119 | 2020 | A missense variant remote from the active site impairs stability of human phosphoglucomutase 1. | 1 |
| 32171858 | 2020 | AMPK-dependent phosphorylation of HDAC8 triggers PGM1 expression to promote lung cancer cell survival under glucose starvation. | 25 |
| 32221390 | 2020 | Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the α-D-phosphohexomutase superfamily. | 7 |
| 33342467 | 2020 | Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots. | 12 |
| 32057119 | 2020 | A missense variant remote from the active site impairs stability of human phosphoglucomutase 1. | 1 |
| 32171858 | 2020 | AMPK-dependent phosphorylation of HDAC8 triggers PGM1 expression to promote lung cancer cell survival under glucose starvation. | 25 |
| 32221390 | 2020 | Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the α-D-phosphohexomutase superfamily. | 7 |
| 33342467 | 2020 | Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots. | 12 |
| 30737079 | 2019 | Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review. | 6 |
Citation
Dessen P
PGM1 (phosphoglucomutase 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/47415/pgm1
