• Gene id: 5223

Gene Summary

• Gene Symbol: PGAM1   Gene   UCSC   Ensembl
• Aliases: HEL-S-35, PGAM-B, PGAMA
• Gene name: phosphoglycerate mutase 1
• Alternate names: phosphoglycerate mutase 1, BPG-dependent PGAM 1, epididymis secretory protein Li 35, phosphoglycerate mutase 1 (brain), phosphoglycerate mutase A, nonmuscle form, phosphoglycerate mutase isozyme B,
• Gene location: 10q24.1 (97426124: 97433443)     Exons: 5     NC_000010.11
• Gene summary(Entrez): The protein encoded by this gene is a mutase that catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. Two transcript variants encoding different isoforms have been found for this gene. [
• OMIM: 172250

Protein Summary

• Protein general information: P18669  
  • Name: Phosphoglycerate mutase 1 (EC 5.4.2.11) (EC 5.4.2.4) (BPG dependent PGAM 1) (Phosphoglycerate mutase isozyme B) (PGAM B)
  • Length: 254  
  • Mass: 28,804
• Sequence:

  MAAYKLVLIRHGESAWNLENRFSGWYDADLSPAGHEEAKRGGQALRDAGYEFDICFTSVQKRAIRTLWTVLDAID
  QMWLPVVRTWRLNERHYGGLTGLNKAETAAKHGEAQVKIWRRSYDVPPPPMEPDHPFYSNISKDRRYADLTEDQL
  PSCESLKDTIARALPFWNEEIVPQIKEGKRVLIAAHGNSLRGIVKHLEGLSEEAIMELNLPTGIPIVYELDKNLK
  PIKPMQFLGDEETVRKAMEAVAAQGKAKK

• Structural information:
  • Interpro: IPR013078  IPR029033  IPR001345  IPR005952  
  • Prosite: PS00175
  • CDD: cd07067
  • PDB: 1LJD 1YFK 1YJX 4GPI 4GPZ
  • PDBsum: 1LJD 1YFK 1YJX 4GPI 4GPZ
  • STRING: ENSP00000359991
• Other Databases: GeneCards:  PGAM1  Malacards:  PGAM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004082	bisphosphoglycerate mutase activity	IEA	molecular function
GO:0004083	bisphosphoglycerate 2-phosphatase activity	IEA	molecular function
GO:0004619	phosphoglycerate mutase activity	IMP	molecular function
GO:0004619	phosphoglycerate mutase activity	IDA	molecular function
GO:0004619	phosphoglycerate mutase activity	NAS	molecular function
GO:0004619	phosphoglycerate mutase activity	EXP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006094	gluconeogenesis	IBA	biological process
GO:0006094	gluconeogenesis	TAS	biological process
GO:0006096	glycolytic process	IDA	biological process
GO:0006110	regulation of glycolytic process	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0016311	dephosphorylation	IEA	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0043209	myelin sheath	IEA	cellular component
GO:0043456	regulation of pentose-phosphate shunt	IDA	biological process
GO:0045730	respiratory burst	IDA	biological process
GO:0046538	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity	IBA	molecular function
GO:0061621	canonical glycolysis	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0004082	bisphosphoglycerate mutase activity	IEA	molecular function
GO:0004083	bisphosphoglycerate 2-phosphatase activity	IEA	molecular function
GO:0004619	phosphoglycerate mutase activity	IEA	molecular function
GO:0004619	phosphoglycerate mutase activity	IEA	molecular function
GO:0004619	phosphoglycerate mutase activity	IMP	molecular function
GO:0004619	phosphoglycerate mutase activity	IDA	molecular function
GO:0004619	phosphoglycerate mutase activity	NAS	molecular function
GO:0004619	phosphoglycerate mutase activity	EXP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006094	gluconeogenesis	IBA	biological process
GO:0006094	gluconeogenesis	TAS	biological process
GO:0006096	glycolytic process	IEA	biological process
GO:0006096	glycolytic process	IEA	biological process
GO:0006096	glycolytic process	IDA	biological process
GO:0006110	regulation of glycolytic process	IDA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0016311	dephosphorylation	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0016868	intramolecular transferase activity, phosphotransferases	IEA	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0043209	myelin sheath	IEA	cellular component
GO:0043456	regulation of pentose-phosphate shunt	IDA	biological process
GO:0045730	respiratory burst	IDA	biological process
GO:0046538	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity	IBA	molecular function
GO:0061621	canonical glycolysis	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0004619	phosphoglycerate mutase activity	IMP	molecular function
GO:0004619	phosphoglycerate mutase activity	IDA	molecular function
GO:0004619	phosphoglycerate mutase activity	NAS	molecular function
GO:0004619	phosphoglycerate mutase activity	EXP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006094	gluconeogenesis	IBA	biological process
GO:0006094	gluconeogenesis	TAS	biological process
GO:0006096	glycolytic process	IDA	biological process
GO:0006110	regulation of glycolytic process	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0019901	protein kinase binding	IPI	molecular function
GO:0043456	regulation of pentose-phosphate shunt	IDA	biological process
GO:0045730	respiratory burst	IDA	biological process
GO:0046538	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity	IBA	molecular function
GO:0061621	canonical glycolysis	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa01230	Biosynthesis of amino acids
hsa04922	Glucagon signaling pathway
hsa05230	Central carbon metabolism in cancer

Diseases

Associated diseases	References
Spermatogenesis defects	MIK: 25701843
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic dysfunction	MIK: 25701843

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25701843	Spermatogenic dysfunction			40 cases of infertile males	Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881