Gene Details: PMM1
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General Information
Gene Name: PMM1 (Phosphomannomutase 1)
Synonym: PMMH22
Short Names: PMM 1;
Alternative Names: PMMH-22;
Notes:
- Phosphomannomutase 1 transfers a phosphate group from the 1 carbon to the 6 carbon on mannose 1 phosphate.
- PMM1 and 2 share 65% homology.
- PMM2 deficiency is recognized as a congenital disease of glycosylation. The lack of available phosphorylated mannose decreases due to the lack of activity and causes underglycosylation. The disease causes a wide array of deformities and metabolic disorders.
- PMM1 has not been associated yet with any disorder.
Description from Dr.Glyco-GPT:
Write a 100-350 word essay about the enzyme human PMM1. Provide information related to enzyme: i) function, ii) reaction pathways, ii) Location, and iv) diseases. In writing include these four subheadings ### Function Human PMM1, or phosphomannomutase 1, is an enzyme that plays a critical role in carbohydrate metabolism, specifically in the interconversion of mannose-6-phosphate and mannose-1-phosphate. This conversion is essential for the synthesis of GDP-mannose, a key precursor required for glycosylation processes. Glycosylation is a fundamental cellular process where sugars are added to proteins and lipids, affecting their function, stability, and localization. ### Reaction Pathways PMM1 functions in the mannose metabolism pathway, where it catalyzes the reversible conversion of mannose-6-phosphate to mannose-1-phosphate. Mannose-1-phosphate is then used to generate GDP-mannose, which is crucial for the synthesis of glycoproteins and glycolipids. These glycosylated molecules are vital for various biological processes, including cell-cell communication, protein folding, and immune responses. PMM1’s role is therefore integral to maintaining the proper flow of mannose intermediates through the glycosylation pathway. ### Location PMM1 is localized in the cytoplasm, where it participates in the metabolism of sugars and the synthesis of nucleotide sugars like GDP-mannose. The cytoplasmic localization allows PMM1 to efficiently catalyze its reaction and provide mannose-1-phosphate for the subsequent steps in glycosylation. This positioning is essential for ensuring that cells have an adequate supply of the precursors needed for proper glycosylation. ### Diseases Unlike its close relative, PMM2, mutations in the PMM1 gene are not typically associated with severe congenital disorders. However, disruptions in PMM1 function can potentially impact glycosylation processes, leading to mild metabolic disturbances. PMM2 mutations, by contrast, cause congenital disorders of glycosylation (CDG), which highlight the importance of phosphomannomutase activity in human health. Although PMM1 has not been directly linked to major diseases, its role in glycosylation underscores its importance in maintaining cellular function and stability. Understanding PMM1's function could contribute to broader insights into metabolic and glycosylation-related disorders.
Catalytic Activity

Reaction and Disease Links
EC # (IUBMB):
5.4.2.8
Brenda:
5.4.2.8
OMIM:
601786
KEGG: 5372
Rhea:
11140
Reactome :
R-HSA-446205
Transcript levels (Cell lines and Single cell data) URL
CRISPR-knockout

CRISPR-activation

CRISPR-inactivation

Top 10 TFs
TF | Score |
---|---|
TCF25 | 0.764761 |
UBE2I | 0.749641 |
SSU72 | 0.745293 |
RBM39 | 0.743760 |
SON | 0.739481 |
XRCC5 | 0.738460 |
HNRNPK | 0.736190 |
YY1 | 0.729948 |
PCBP1 | 0.723811 |
PCBP2 | 0.718653 |
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