• Gene id: 162466

Gene Summary

• Gene Symbol: PHOSPHO1   Gene   UCSC   Ensembl
• Gene name: phosphoethanolamine/phosphocholine phosphatase 1
• Alternate names: phosphoethanolamine/phosphocholine phosphatase, phosphatase, orphan 1,
• Gene location: 17q21.32 (49230786: 49223365)     Exons: 3     NC_000017.11

Protein Summary

• Protein general information: Q8TCT1  
  • Name: Phosphoethanolamine/phosphocholine phosphatase (EC 3.1.3.75)
  • Length: 267  
  • Mass: 29713
  • Tissue specificity: Expressed at sites of mineralization in bone and cartilage. Highly expressed in osteoblast cell line SaOS-2 which produces a mineralized matrix, but not in MG-63 cell line, which do not mineralize. {ECO
• Sequence:

  MSGCFPVSGLRCLSRDGRMAAQGAPRFLLTFDFDETIVDENSDDSIVRAAPGQRLPESLRATYREGFYNEYMQRV
  FKYLGEQGVRPRDLSAIYEAIPLSPGMSDLLQFVAKQGACFEVILISDANTFGVESSLRAAGHHSLFRRILSNPS
  GPDARGLLALRPFHTHSCARCPANMCKHKVLSDYLRERAHDGVHFERLFYVGDGANDFCPMGLLAGGDVAFPRRG
  YPMHRLIQEAQKAEPSSFRASVVPWETAADVRLHLQQVLKSC

• Structural information:
  • Interpro: IPR036412  IPR023214  IPR016965  IPR006384  
  • STRING: ENSP00000406909
• Other Databases: GeneCards:  PHOSPHO1  Malacards:  PHOSPHO1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016791	phosphatase activity	IBA	molecular function
GO:0035630	bone mineralization involved in bone maturation	IBA	biological process
GO:0016791	phosphatase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0030500	regulation of bone mineralization	IEA	biological process
GO:0052731	phosphocholine phosphatase activity	IEA	molecular function
GO:0052732	phosphoethanolamine phosphatase activity	IEA	molecular function
GO:0016462	pyrophosphatase activity	IDA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006646	phosphatidylethanolamine biosynthetic process	TAS	biological process
GO:0006656	phosphatidylcholine biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0065010	extracellular membrane-bounded organelle	IEA	cellular component
GO:0035630	bone mineralization involved in bone maturation	IEA	biological process
GO:0031012	extracellular matrix	IEA	cellular component
GO:0001958	endochondral ossification	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00564	Glycerophospholipid metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881