• Gene id: 56261

Gene Summary

• Gene Symbol: GPCPD1   Gene   UCSC   Ensembl
• Aliases: EDI3, GDE5, GDPD6, PREI4
• Gene name: glycerophosphocholine phosphodiesterase 1
• Alternate names: glycerophosphocholine phosphodiesterase GPCPD1, endometrial differential 3, glycerophosphocholine phosphodiesterase GDE1 homolog, glycerophosphodiester phosphodiesterase 5, preimplantation protein 4, putative glycerophosphocholine phosphodiesterase GPCPD1, puta,
• Gene location: 20p12.3 (5611045: 5544438)     Exons: 24     NC_000020.11
• OMIM: 614124

Protein Summary

• Protein general information: Q9NPB8  
  • Name: Glycerophosphocholine phosphodiesterase GPCPD1 (EC 3.1.4.2) (Glycerophosphodiester phosphodiesterase 5)
  • Length: 672  
  • Mass: 76035
  • Tissue specificity: Widely expressed, with highest expression in spinal chord.
• Sequence:

  MTPSQVAFEIRGTLLPGEVFAICGSCDALGNWNPQNAVALLPENDTGESMLWKATIVLSRGVSVQYRYFKGYFLE
  PKTIGGPCQVIVHKWETHLQPRSITPLESEIIIDDGQFGIHNGVETLDSGWLTCQTEIRLRLHYSEKPPVSITKK
  KLKKSRFRVKLTLEGLEEDDDDRVSPTVLHKMSNSLEISLISDNEFKCRHSQPECGYGLQPDRWTEYSIQTMEPD
  NLELIFDFFEEDLSEHVVQGDALPGHVGTACLLSSTIAESGKSAGILTLPIMSRNSRKTIGKVRVDYIIIKPLPG
  YSCDMKSSFSKYWKPRIPLDVGHRGAGNSTTTAQLAKVQENTIASLRNAASHGAAFVEFDVHLSKDFVPVVYHDL
  TCCLTMKKKFDADPVELFEIPVKELTFDQLQLLKLTHVTALKSKDRKESVVQEENSFSENQPFPSLKMVLESLPE
  DVGFNIEIKWICQQRDGMWDGNLSTYFDMNLFLDIILKTVLENSGKRRIVFSSFDADICTMVRQKQNKYPILFLT
  QGKSEIYPELMDLRSRTTPIAMSFAQFENLLGINVHTEDLLRNPSYIQEAKAKGLVIFCWGDDTNDPENRRKLKE
  LGVNGLIYDRIYDWMPEQPNIFQVEQLERLKQELPELKSCLCPTVSRFVPSSLCGESDIHVDANGIDNVENA

• Structural information:
  • Protein Domains: (1..11-)
    (/note="CBM20-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00594-)
    (318..61-)
    (/note="GP-PDE"-)
  • Interpro: IPR013784  IPR034839  IPR002044  IPR033506  IPR030395   IPR013783  IPR017946  
  • Prosite: PS51166 PS51704
  • CDD: cd05814
  • PDB: 2Z0B
  • PDBsum: 2Z0B
  • STRING: ENSP00000368305
• Other Databases: GeneCards:  GPCPD1  Malacards:  GPCPD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0047389	glycerophosphocholine phosphodiesterase activity	IBA	molecular function
GO:0046475	glycerophospholipid catabolic process	IBA	biological process
GO:0047389	glycerophosphocholine phosphodiesterase activity	IEA	molecular function
GO:2001070	starch binding	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008081	phosphoric diester hydrolase activity	IEA	molecular function
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0046475	glycerophospholipid catabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0047389	glycerophosphocholine phosphodiesterase activity	IEA	molecular function
GO:0047389	glycerophosphocholine phosphodiesterase activity	IEA	molecular function
GO:0007519	skeletal muscle tissue development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00564	Glycerophospholipid metabolism
hsa05231	Choline metabolism in cancer

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583
Spermatogenic defects	MIK: 31037746

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R