Recombinant Human Phosphoglucomutase-1 (PGM1)

Code CSB-EP017866HU
MSDS
Size $224
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  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
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Product Details

Purity
Greater than 90% as determined by SDS-PAGE.
Target Names
PGM1
Uniprot No.
Research Area
Metabolism
Alternative Names
CDG1T; Glucose phosphomutase 1; GSD14; OTTHUMP00000010519; OTTHUMP00000010520; PGM 1; PGM1; PGM1_HUMAN; Phosphoglucomutase 1; Phosphoglucomutase-1; Phosphoglucomutase1
Species
Homo sapiens (Human)
Source
E.coli
Expression Region
1-562aa
Target Protein Sequence
MVKIVTVKTQAYQDQKPGTSGLRKRVKVFQSSANYAENFIQSIISTVEPAQRQEATLVVGGDGRFYMKEAIQLIARIAAANGIGRLVIGQNGILSTPAVSCIIRKIKAIGGIILTASHNPGGPNGDFGIKFNISNGGPAPEAITDKIFQISKTIEEYAVCPDLKVDLGVLGKQQFDLENKFKPFTVEIVDSVEAYATMLRSIFDFSALKELLSGPNRLKIRIDAMHGVVGPYVKKILCEELGAPANSAVNCVPLEDFGGHHPDPNLTYAADLVETMKSGEHDFGAAFDGDGDRNMILGKHGFFVNPSDSVAVIAANIFSIPYFQQTGVRGFARSMPTSGALDRVASATKIALYETPTGWKFFGNLMDASKLSLCGEESFGTGSDHIREKDGLWAVLAWLSILATRKQSVEDILKDHWQKYGRNFFTRYDYEEVEAEGANKMMKDLEALMFDRSFVGKQFSANDKVYTVEKADNFEYSDPVDGSISRNQGLRLIFTDGSRIVFRLSGTGSAGATIRLYIDSYEKDVAKINQDPQVMLAPLISIALKVSQLQERTGRTAPTVIT
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight
77.4kDa
Protein Length
Full Length
Tag Info
N-terminal 6xHis-SUMO-tagged
Form
Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer
If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution
We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time
Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA
Please contact us to get it.
Description

This Human PGM1 recombinant protein was produced in E. coli, where the gene sequence encoding Human PGM1 (1-562aa) was expressed with the N-terminal 6xHis-SUMO tag. The purity of this PGM1 protein was greater than 90% by SDS-PAGE.
PGM1 is an enzyme with the primary function of catalyzing the interconversion of glucose-6-phosphate (G6P) and glucose-1-phosphate (G1P) in the sugar metabolism pathway. Specifically, it converts G6P to G1P or G1P to G6P. This enzymatic activity is crucial for cellular energy metabolism and the synthesis and breakdown of sugars. PGM1 is involved in multiple sugar metabolism pathways, including sugar isomerization, sugar alcohol phosphorylation, and glycogen synthesis and breakdown. These pathways are essential for maintaining cellular energy balance and survival.
The PGM1 gene is located in the human genome, and mutations or genetic variations can lead to a rare inherited metabolic disorder known as PGM1 deficiency disease (PGM1-CDG). This is a glycoprotein glycosylation disorder, and patients typically exhibit multisystem symptoms, including growth retardation, neurological issues, and immune system problems.

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Target Background

Function
This enzyme participates in both the breakdown and synthesis of glucose.
Gene References into Functions
  1. PGM1 deficiency has been recognized as a cause of the congenital disorders of glycosylation. PMID: 29858906
  2. The structural perturbation resulting from mutation of this single amino acid reveals the molecular mechanism underlying PGM1 deficiency in these missense variants. PMID: 28117557
  3. Homozygous mutation in the PGM1 gene is associated with PGM1 deficiency. PMID: 26768186
  4. analysis of the structural basis of PGM1 enzyme dysfunction in PGM1 deficiency PMID: 26972339
  5. both PGM1 protein misfolding and catalytic impairment may play a role in PGM1 deficiency PMID: 25288802
  6. PGM1 is required for sustained cell growth during nutritional changes PMID: 24952355
  7. Phosphoglucomutase 1 deficiency, previously identified as a glycogenosis, is also a congenital disorder of glycosylation. PMID: 24499211
  8. The analysis involved the data on nine polymorphic codominant loci: HP, GC, TF, PI, PGM1, GLO1, C3, ACP1, and ESD. The loci were selected by significance of differences in genotype frequencies between tuberculosis patients and healthy controls PMID: 12942785
  9. Results report a novel human protein, calphoglin, which activates inorganic pyrophosphatase (IPP) and enhances phosphoglucomutase activity through the activated IPP. PMID: 15522220
  10. During extrauterine life, females carrying the PGM1*2 allele are relatively protected from extreme body mass increase, and during intrauterine life, PGM1*2/*2 homozygotes show a tendency to low body mass increase. PMID: 18091362
  11. There is a correlation between glomerular expression of MCP-1 and PGM1 and worsening renal prognosis in paediatric lupus nephritis. PMID: 18495743
  12. ZASP/Cypher anchors PGM1 to Z-disc under conditions of stress. The impaired binding of PGM1 to ZASP/Cypher might be involved in the pathogenesis of dilated cardiomyopathy. PMID: 19377068

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Involvement in disease
Congenital disorder of glycosylation 1T (CDG1T)
Subcellular Location
[Isoform 1]: Cytoplasm.
Protein Families
Phosphohexose mutase family
Database Links

HGNC: 8905

OMIM: 171900

KEGG: hsa:5236

UniGene: Hs.1869

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