• Gene id: 55862

Gene Summary

• Gene Symbol: ECHDC1   Gene   UCSC   Ensembl
• Aliases: HEL-S-76, MMCD, dJ351K20.2
• Gene name: ethylmalonyl-CoA decarboxylase 1
• Alternate names: ethylmalonyl-CoA decarboxylase, enoyl CoA hydratase domain containing 1, enoyl Coenzyme A hydratase domain containing 1, enoyl-CoA hydratase domain-containing protein 1, epididymis secretory protein Li 76, methylmalonyl-CoA decarboxylase,
• Gene location: 6q22.33 (127344178: 127288711)     Exons: 11     NC_000006.12
• OMIM: 612136

Protein Summary

• Protein general information: Q9NTX5  
  • Name: Ethylmalonyl CoA decarboxylase (EC 4.1.1.94) (Enoyl CoA hydratase domain containing protein 1) (Methylmalonyl CoA decarboxylase) (MMCD)
  • Length: 307  
  • Mass: 33698
• Sequence:

  MALKQEMAKSLLKTASLSGRTKLLHQTGLSLYSTSHGFYEEEVKKTLQQFPGGSIDLQKEDNGIGILTLNNPSRM
  NAFSGVMMLQLLEKVIELENWTEGKGLIVRGAKNTFSSGSDLNAVKSLGTPEDGMAVCMFMQNTLTRFMRLPLIS
  VALVQGWALGGGAEFTTACDFRLMTPESKIRFVHKEMGIIPSWGGTTRLVEIIGSRQALKVLSGALKLDSKNALN
  IGMVEEVLQSSDETKSLEEAQEWLKQFIQGPPEVIRALKKSVCSGRELYLEEALQNERDLLGTVWGGPANLEAIA
  KKGKFNK

• Structural information:
  • Interpro: IPR029045  IPR018376  IPR001753  
  • Prosite: PS00166
  • STRING: ENSP00000436585
• Other Databases: GeneCards:  ECHDC1  Malacards:  ECHDC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0006635	fatty acid beta-oxidation	IBA	biological process
GO:0004300	enoyl-CoA hydratase activity	IBA	molecular function
GO:0016831	carboxy-lyase activity	ISS	molecular function
GO:0005829	cytosol	ISS	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0016831	carboxy-lyase activity	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00640	Propanoate metabolism

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)