PMM1: Phosphomannomutase 1
Key enzyme in mannose metabolism and glycosylation
Gene Information Card
| Symbol | PMM1 |
|---|---|
| Full Name | Phosphomannomutase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 5373 ncbi.nlm.nih.gov/gene/5373 |
| Ensembl ID | ENSG00000100368 |
| UniProt ID | Q92871 |
| OMIM ID | 601786 |
| HGNC ID | 9113 |
| Aliases | PMM, PMM-1, MGC111102 |
Description
PMM1 encodes phosphomannomutase 1, an enzyme that catalyzes the conversion of mannose-6-phosphate to mannose-1-phosphate, a critical step in the synthesis of GDP-mannose and dolichol-phosphate-mannose. These intermediates are essential for N-glycosylation, GPI anchor biosynthesis, and other mannosylation pathways. Deficiency of PMM1 is associated with congenital disorders of glycosylation (CDG).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type Ia (PMM2-CDG) | PMM1 mutations may contribute to CDG phenotype; PMM2 is the primary gene, but PMM1 functional overlap is suspected | ClinVar, OMIM |
| Phosphomannomutase deficiency | Loss of PMM1 enzyme activity disrupts mannose-1-phosphate production, impairing glycosylation | UniProt, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Brain | 8.1 | Low |
| Heart | 7.4 | Low |
| Lung | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.3 | Hepatocellular carcinoma cell line |
| HEK293 | 11.8 | Embryonic kidney cells |
| K562 | 9.5 | Chronic myeloid leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.422C>T (p.Thr141Met) | Missense | <0.01% | Reduced enzyme activity |
| c.638G>A (p.Arg213His) | Missense | <0.01% | Impaired catalytic function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Thr141Met, p.Arg213His) reduce or abolish phosphomannomutase activity, leading to glycosylation defects.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphomannomutase activity (GO:0004615) | • mannose metabolic process (GO:0006013) |
| • protein glycosylation (GO:0006486) | • cytosol (GO:0005829) |
| • cytoplasm (GO:0005737) |
Pathways
• GDP-mannose biosynthesis
• N-glycan biosynthesis
• GPI anchor biosynthesis
Protein Summary
Phosphomannomutase 1 (PMM1) is a 262-amino acid cytosolic enzyme that interconverts mannose-6-phosphate and mannose-1-phosphate. It is a member of the phosphomannomutase family and is ubiquitously expressed, with highest levels in liver and kidney. PMM1 is essential for the production of GDP-mannose, a substrate for glycosylation reactions. Mutations in PMM1 are rare but can cause phosphomannomutase deficiency, contributing to congenital disorders of glycosylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PMM1 Knockout HEK293 Cell Line | EDJ-KQ5493 | Human | 5372 | Details Get a Quote |
| PMM1 Knockout A-549 Cell Line | EDJ-KQ28722 | Human | 5372 | Details Get a Quote |
| PMM1 Knockout HCT 116 Cell Line | EDJ-KQ28723 | Human | 5372 | Details Get a Quote |
| PMM1 Knockout HeLa Cell Line | EDJ-KQ28724 | Human | 5372 | Details Get a Quote |
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