• Gene id: 441531

Gene Summary

• Gene Symbol: PGAM4   Gene   UCSC   Ensembl
• Aliases: PGAM-B, PGAM1, PGAM3, dJ1000K24.1
• Gene name: phosphoglycerate mutase family member 4
• Alternate names: phosphoglycerate mutase 4, phosphoglycerate mutase family 3, phosphoglycerate mutase processed protein, probable phosphoglycerate mutase 4,
• Gene location: Xq21.1 (77969637: 77967960)     Exons: 1     NC_000023.11
• Gene summary(Entrez): This intronless gene appears to have arisen from a retrotransposition event, yet it is thought to be an expressed, protein-coding gene. The encoded protein is a member of the phosphoglycerate mutase family, a set of enzymes that catalyze the transfer of a
• OMIM: 300567

Protein Summary

• Protein general information: Q8N0Y7  
  • Name: Probable phosphoglycerate mutase 4 (EC 5.4.2.11) (EC 5.4.2.4)
  • Length: 254  
  • Mass: 28,777
• Sequence:

  MAAYKLVLIRHGESTWNLENRFSCWYDADLSPAGHEEAKRGGQALRDAGYEFDICLTSVQKRVIRTLWTVLDAID
  QMWLPVVRTWRLNERHYGGLTGLNKAETAAKHGEAQVKIWRRSYDVPPPPMEPDHPFYSNISKDRRYADLTEDQL
  PSYESPKDTIARALPFWNEEIVPQIKEGKRVLIAAHGNSLQGIAKHVEGLSEEAIMELNLPTGIPIVYELDKNLK
  PIKPMQFLGDEETVCKAIEAVAAQGKAKK

• Structural information:
  • Interpro: IPR013078  IPR029033  IPR001345  IPR005952  
  • Prosite: PS00175
  • CDD: cd07067
  • STRING: ENSP00000412189
• Other Databases: GeneCards:  PGAM4  Malacards:  PGAM4

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	NAS	molecular function
GO:0004619	phosphoglycerate mutase activity	IMP	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0006094	gluconeogenesis	IBA	biological process
GO:0006096	glycolytic process	NAS	biological process
GO:0006096	glycolytic process	IMP	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0043456	regulation of pentose-phosphate shunt	IBA	biological process
GO:0046538	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity	IBA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0097228	sperm principal piece	IDA	cellular component
GO:1902093	positive regulation of flagellated sperm motility	NAS	biological process
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	NAS	molecular function
GO:0004619	phosphoglycerate mutase activity	IMP	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0006094	gluconeogenesis	IBA	biological process
GO:0006096	glycolytic process	IEA	biological process
GO:0006096	glycolytic process	IEA	biological process
GO:0006096	glycolytic process	NAS	biological process
GO:0006096	glycolytic process	IMP	biological process
GO:0008152	metabolic process	IEA	biological process
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:0043456	regulation of pentose-phosphate shunt	IBA	biological process
GO:0046538	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity	IBA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0097228	sperm principal piece	IDA	cellular component
GO:1902093	positive regulation of flagellated sperm motility	NAS	biological process
GO:0004619	phosphoglycerate mutase activity	NAS	molecular function
GO:0004619	phosphoglycerate mutase activity	IMP	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0006094	gluconeogenesis	IBA	biological process
GO:0006096	glycolytic process	NAS	biological process
GO:0006096	glycolytic process	IMP	biological process
GO:0043456	regulation of pentose-phosphate shunt	IBA	biological process
GO:0046538	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity	IBA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0097228	sperm principal piece	IDA	cellular component
GO:1902093	positive regulation of flagellated sperm motility	NAS	biological process

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
Non obstructive azoospermia	MIK: 23631659
Hypospermatogenesis	MIK: 28361989
Non-obstructive azoospermia (NOA)	MIK: 23631659

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23631659	Non-obstructive azoospermia (NOA)	PGAM4 (A138C, G539A)	Han Chi nese	214 (103 infertile men with NOA, 111 controls)	Male infertility	PGAM4
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray