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: 5372
MIM: 601786
HGNC: 9114
Ensembl: ENSG00000100417
Variants:
dbSNP: 5372
ClinVar: 5372
TCGA: ENSG00000100417
COSMIC: PMM1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000100417 | ENST00000216259 | Q92871 |
| ENSG00000100417 | ENST00000216259 | A0A024R1U5 |
| ENSG00000100417 | ENST00000414636 | F8WFD5 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 29695157 | 2018 | Structural Basis of the Molecular Switch between Phosphatase and Mutase Functions of Human Phosphomannomutase 1 under Ischemic Conditions. | 3 |
| 29695157 | 2018 | Structural Basis of the Molecular Switch between Phosphatase and Mutase Functions of Human Phosphomannomutase 1 under Ischemic Conditions. | 3 |
| 29261720 | 2017 | A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG. | 6 |
| 29261720 | 2017 | A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG. | 6 |
| 18591914 | 2008 | GUS and PMM1 as suitable reference genes for gene expression analysis in the liver tissue of patients with chronic hepatitis. | 4 |
| 18927083 | 2008 | Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase. | 17 |
| 18591914 | 2008 | GUS and PMM1 as suitable reference genes for gene expression analysis in the liver tissue of patients with chronic hepatitis. | 4 |
| 18927083 | 2008 | Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase. | 17 |
| 17186415 | 2007 | Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype). | 6 |
| 17186415 | 2007 | Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype). | 6 |
| 16540464 | 2006 | The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a. | 34 |
| 16540464 | 2006 | The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a. | 34 |
| 12789572 | 2003 | Ophthalmic manifestations of congenital disorder of glycosylation type 1a. | 13 |
| 12789572 | 2003 | Ophthalmic manifestations of congenital disorder of glycosylation type 1a. | 13 |
Citation
Dessen P
PMM1 (phosphomannomutase 1)
Atlas Genet Cytogenet Oncol Haematol. 2017-08-01
Online version: http://atlasgeneticsoncology.org/gene/56913/pmm1-(phosphomannomutase-1)
