• Gene id: 81888

Gene Summary

• Gene Symbol: HYI   Gene   UCSC   Ensembl
• Aliases: HT036
• Gene name: hydroxypyruvate isomerase (putative)
• Alternate names: putative hydroxypyruvate isomerase, endothelial cell apoptosis protein E-CE1, hydroxypyruvate isomerase homolog,
• Gene location: 1p34.2 (43454240: 43450606)     Exons: 9     NC_000001.11
• Gene summary(Entrez): This gene encodes a putative hydroxypyruvate isomerase, which likely catalyzes the conversion of hydroxypyruvate to 2-hydroxy-3-oxopropanoate, and may be involved in carbohydrate transport and metabolism. Alternatively spliced transcript variants encoding
• OMIM: 179616

Protein Summary

• Protein general information: Q5T013  
  • Name: Putative hydroxypyruvate isomerase (EC 5.3.1.22) (Endothelial cell apoptosis protein E CE1)
  • Length: 277  
  • Mass: 30406
• Sequence:

  MAPLRFSANLSWLFPELSGLPARVRAAGSSGFEAVEVAWPYAETPEALARAAREAGLRLVLINTPPGDQEKGEMG
  LGAVPGRQAAFREGLEQAVRYAKALGCPRIHLMAGRVPQGADRIAVKAEMEAVFLENLRHAAGVLAQEDLVGLLE
  PINTRITDPQYFLDTPQQAAAILQKVGRPNLQLQMDIFHWQIMDGNLTGNIREFLPIVGHVQVAQVPGRGEPSSP
  GELNFPYLFQLLEDEGYKGFVGCEYQPRGDTVEGLSWLRSYWDRRGHPEAGQ

• Structural information:
  • Interpro: IPR026040  IPR036237  IPR013022  
  • STRING: ENSP00000361502
• Other Databases: GeneCards:  HYI  Malacards:  HYI

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008903	hydroxypyruvate isomerase activity	IBA	molecular function
GO:0046487	glyoxylate metabolic process	IBA	biological process
GO:0016853	isomerase activity	IEA	molecular function
GO:0008903	hydroxypyruvate isomerase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008150	biological_process	ND	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0005575	cellular_component	ND	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00630	Glyoxylate and dicarboxylate metabolism

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R