• Gene id: 5239

Gene Summary

• Gene Symbol: PGM5   Gene   UCSC   Ensembl
• Aliases: PGMRP
• Gene name: phosphoglucomutase 5
• Alternate names: phosphoglucomutase-like protein 5, PGM-RP, aciculin, phosphoglucomutase-related protein,
• Gene location: 9q21.11 (68356583: 68531060)     Exons: 5     NC_000009.12
• Gene summary(Entrez): Phosphoglucomutases (EC 5.2.2.2.), such as PGM5, are phosphotransferases involved in interconversion of glucose-1-phosphate and glucose-6-phosphate. PGM activity is essential in formation of carbohydrates from glucose-6-phosphate and in formation of gluco
• OMIM: 600981

Protein Summary

• Protein general information: Q15124  
  • Name: Phosphoglucomutase like protein 5 (Aciculin) (Phosphoglucomutase related protein) (PGM RP)
  • Length: 567  
  • Mass: 62225
  • Tissue specificity: Detected in smooth and cardiac muscle at high levels and in skeletal muscle at low level. Present in other tissues due to vascular or other smooth muscle component. Low levels are present in liver, kidney, skin and brain (at protein le
• Sequence:

  MEGSPIPVLTVPTAPYEDQRPAGGGGLRRPTGLFEGQRNYLPNFIQSVLSSIDLRDRQGCTMVVGSDGRYFSRTA
  IEIVVQMAAANGIGRLIIGQNGILSTPAVSCIIRKIKAAGGIILTASHCPGGPGGEFGVKFNVANGGPAPDVVSD
  KIYQISKTIEEYAICPDLRIDLSRLGRQEFDLENKFKPFRVEIVDPVDIYLNLLRTIFDFHAIKGLLTGPSQLKI
  RIDAMHGVMGPYVRKVLCDELGAPANSAINCVPLEDFGGQHPDPNLTYATTLLEAMKGGEYGFGAAFDADGDRYM
  ILGQNGFFVSPSDSLAIIAANLSCIPYFRQMGVRGFGRSMPTSMALDRVAKSMKVPVYETPAGWRFFSNLMDSGR
  CNLCGEESFGTGSDHLREKDGLWAVLVWLSIIAARKQSVEEIVRDHWAKFGRHYYCRFDYEGLDPKTTYYIMRDL
  EALVTDKSFIGQQFAVGSHVYSVAKTDSFEYVDPVDGTVTKKQGLRIIFSDASRLIFRLSSSSGVRATLRLYAES
  YERDPSGHDQEPQAVLSPLIAIALKISQIHERTGRRGPTVIT

• Structural information:
  • Interpro: IPR005844  IPR016055  IPR005845  IPR005846  IPR036900   IPR016066  IPR005841  
  • Prosite: PS00710
  • STRING: ENSP00000379678
• Other Databases: GeneCards:  PGM5  Malacards:  PGM5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0005912	adherens junction	IBA	cellular component
GO:0005975	carbohydrate metabolic process	IBA	biological process
GO:0014706	striated muscle tissue development	IBA	biological process
GO:0004614	phosphoglucomutase activity	IBA	NOT|molecular function
GO:0030055	cell-substrate junction	IBA	cellular component
GO:0030239	myofibril assembly	IBA	biological process
GO:0042383	sarcolemma	IBA	cellular component
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:0030054	cell junction	IEA	cellular component
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006006	glucose metabolic process	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005912	adherens junction	IDA	cellular component
GO:0004614	phosphoglucomutase activity	IDA	NOT|molecular function
GO:0016010	dystrophin-associated glycoprotein complex	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0030055	cell-substrate junction	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0014704	intercalated disc	IDA	cellular component
GO:0005914	spot adherens junction	IDA	cellular component
GO:0009898	cytoplasmic side of plasma membrane	IDA	cellular component
GO:0043034	costamere	IDA	cellular component
GO:0042383	sarcolemma	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0001725	stress fiber	IDA	cellular component
GO:0016010	dystrophin-associated glycoprotein complex	ISS	cellular component
GO:0005198	structural molecule activity	NAS	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)