• Gene id: 5236

Gene Summary

• Gene Symbol: PGM1   Gene   UCSC   Ensembl
• Aliases: CDG1T, GSD14
• Gene name: phosphoglucomutase 1
• Alternate names: phosphoglucomutase-1, PGM 1, glucose phosphomutase 1,
• Gene location: 1p31.3 (28357588: 28346627)     Exons: 11     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 posi
• OMIM: 171900

Protein Summary

• Protein general information: P36871  
  • Name: Phosphoglucomutase 1 (PGM 1) (EC 5.4.2.2) (Glucose phosphomutase 1)
  • Length: 562  
  • Mass: 61449
• Sequence:

  MVKIVTVKTQAYQDQKPGTSGLRKRVKVFQSSANYAENFIQSIISTVEPAQRQEATLVVGGDGRFYMKEAIQLIA
  RIAAANGIGRLVIGQNGILSTPAVSCIIRKIKAIGGIILTASHNPGGPNGDFGIKFNISNGGPAPEAITDKIFQI
  SKTIEEYAVCPDLKVDLGVLGKQQFDLENKFKPFTVEIVDSVEAYATMLRSIFDFSALKELLSGPNRLKIRIDAM
  HGVVGPYVKKILCEELGAPANSAVNCVPLEDFGGHHPDPNLTYAADLVETMKSGEHDFGAAFDGDGDRNMILGKH
  GFFVNPSDSVAVIAANIFSIPYFQQTGVRGFARSMPTSGALDRVASATKIALYETPTGWKFFGNLMDASKLSLCG
  EESFGTGSDHIREKDGLWAVLAWLSILATRKQSVEDILKDHWQKYGRNFFTRYDYEEVEAEGANKMMKDLEALMF
  DRSFVGKQFSANDKVYTVEKADNFEYSDPVDGSISRNQGLRLIFTDGSRIVFRLSGTGSAGATIRLYIDSYEKDV
  AKINQDPQVMLAPLISIALKVSQLQERTGRTAPTVIT

• Structural information:
  • Interpro: IPR005844  IPR016055  IPR005845  IPR005846  IPR005843   IPR036900  IPR016066  IPR005841  
  • Prosite: PS00710
  • PDB: 5EPC 5F9C 5HSH 5JN5 5TR2 5VBI 5VEC 5VG7 5VIN 6BJ0
  • PDBsum: 5EPC 5F9C 5HSH 5JN5 5TR2 5VBI 5VEC 5VG7 5VIN 6BJ0
  • DIP: 60903
  • STRING: ENSP00000360124
• Other Databases: GeneCards:  PGM1  Malacards:  PGM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005975	carbohydrate metabolic process	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0004614	phosphoglucomutase activity	IBA	molecular function
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0006006	glucose metabolic process	IDA	biological process
GO:0004614	phosphoglucomutase activity	IDA	molecular function
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0016868	intramolecular transferase activity, phosphotransferases	IEA	molecular function
GO:0071704	organic substance metabolic process	IEA	biological process
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0006006	glucose metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016853	isomerase activity	IEA	molecular function
GO:0004614	phosphoglucomutase activity	IEA	molecular function
GO:0005980	glycogen catabolic process	TAS	biological process
GO:0019388	galactose catabolic process	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904724	tertiary granule lumen	TAS	cellular component
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005978	glycogen biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004614	phosphoglucomutase activity	IEA	molecular function
GO:0006006	glucose metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0004614	phosphoglucomutase activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0006006	glucose metabolic process	NAS	biological process
GO:0005737	cytoplasm	NAS	cellular component
GO:0004614	phosphoglucomutase activity	TAS	molecular function
GO:0006094	gluconeogenesis	TAS	biological process
GO:0006096	glycolytic process	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa00010	Glycolysis / Gluconeogenesis
hsa00520	Amino sugar and nucleotide sugar metabolism
hsa00030	Pentose phosphate pathway
hsa00500	Starch and sucrose metabolism
hsa00052	Galactose metabolism

Diseases

Associated diseases	References
Congenital disorders of glycosylation type I	KEGG:H00118
Glycogen storage disease	KEGG:H00069
Muscle glycogen storage disease	KEGG:H01762
Glycogen storage disease type XIV	KEGG:H01954
Congenital disorders of glycosylation type I	KEGG:H00118
Glycogen storage disease	KEGG:H00069
Muscle glycogen storage disease	KEGG:H01762
Glycogen storage disease type XIV	KEGG:H01954
Endometrial cancer	PMID:508567
Teratoma	PMID:5259759
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881