• Gene id: 58478

Gene Summary

• Gene Symbol: ENOPH1   Gene   UCSC   Ensembl
• Aliases: E1, MASA, MST145, mtnC
• Gene name: enolase-phosphatase 1
• Alternate names: enolase-phosphatase E1, 2,3-diketo-5-methylthio-1-phosphopentane phosphatase, acireductone synthase,
• Gene location: 4q21.22 (82430589: 82461176)     Exons: 6     NC_000004.12

Protein Summary

• Protein general information: Q9UHY7  
  • Name: Enolase phosphatase E1 (EC 3.1.3.77) (2,3 diketo 5 methylthio 1 phosphopentane phosphatase) (MASA homolog)
  • Length: 261  
  • Mass: 28933
• Sequence:

  MVVLSVPAEVTVILLDIEGTTTPIAFVKDILFPYIEENVKEYLQTHWEEEECQQDVSLLRKQAEEDAHLDGAVPI
  PAASGNGVDDLQQMIQAVVDNVCWQMSLDRKTTALKQLQGHMWRAAFTAGRMKAEFFADVVPAVRKWREAGMKVY
  IYSSGSVEAQKLLFGHSTEGDILELVDGHFDTKIGHKVESESYRKIADSIGCSTNNILFLTDVTREASAAEEADV
  HVAVVVRPGNAGLTDDEKTYYSLITSFSELYLPSST

• Structural information:
  • Interpro: IPR023943  IPR027511  IPR036412  IPR006439  IPR023214  
  • CDD: cd01629
  • PDB: 1YNS 1ZS9
  • PDBsum: 1YNS 1ZS9
  • STRING: ENSP00000273920
• Other Databases: GeneCards:  ENOPH1  Malacards:  ENOPH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043874	acireductone synthase activity	IBA	molecular function
GO:0019509	L-methionine salvage from methylthioadenosine	IBA	biological process
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0043874	acireductone synthase activity	IEA	molecular function
GO:0019509	L-methionine salvage from methylthioadenosine	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0008652	cellular amino acid biosynthetic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0009086	methionine biosynthetic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043874	acireductone synthase activity	IEA	molecular function
GO:0019509	L-methionine salvage from methylthioadenosine	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0019284	L-methionine salvage from S-adenosylmethionine	IEA	biological process
GO:0043715	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity	IEA	molecular function
GO:0043716	2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity	IEA	molecular function
GO:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0019509	L-methionine salvage from methylthioadenosine	IEA	biological process
GO:0043874	acireductone synthase activity	IDA	molecular function
GO:0019509	L-methionine salvage from methylthioadenosine	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00270	Cysteine and methionine metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881