• Gene id: 1632

Gene Summary

• Gene Symbol: ECI1   Gene   UCSC   Ensembl
• Aliases: DCI
• Gene name: enoyl-CoA delta isomerase 1
• Alternate names: enoyl-CoA delta isomerase 1, mitochondrial, 3,2 trans-enoyl-Coenzyme A isomerase, 3,2-trans-enoyl-CoA isomerase, mitochondrial, D3,D2-enoyl-CoA isomerase, acetylene-allene isomerase, delta(3),Delta(2)-enoyl-CoA isomerase, dodecenoyl-CoA delta isomerase (3,2 tra,
• Gene location: 16p13.3 (2251586: 2239401)     Exons: 7     NC_000016.10
• Gene summary(Entrez): This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising durin
• OMIM: 142640

Protein Summary

• Protein general information: P42126  
  • Name: Enoyl CoA delta isomerase 1, mitochondrial (EC 5.3.3.8) (3,2 trans enoyl CoA isomerase) (Delta(3),Delta(2) enoyl CoA isomerase) (D3,D2 enoyl CoA isomerase) (Dodecenoyl CoA isomerase)
  • Length: 302  
  • Mass: 32816
• Sequence:

  MALVASVRVPARVLLRAGARLPGAALGRTERAAGGGDGARRFGSQRVLVEPDAGAGVAVMKFKNPPVNSLSLEFL
  TELVISLEKLENDKSFRGVILTSDRPGVFSAGLDLTEMCGRSPAHYAGYWKAVQELWLRLYQSNLVLVSAINGAC
  PAGGCLVALTCDYRILADNPRYCIGLNETQLGIIAPFWLKDTLENTIGHRAAERALQLGLLFPPAEALQVGIVDQ
  VVPEEQVQSTALSAIAQWMAIPDHARQLTKAMMRKATASRLVTQRDADVQNFVSFISKDSIQKSLQMYLERLKEE
  KG

• Structural information:
  • Interpro: IPR029045  IPR018376  IPR001753  
  • Prosite: PS00166
  • PDB: 1SG4
  • PDBsum: 1SG4
  • STRING: ENSP00000301729
• Other Databases: GeneCards:  ECI1  Malacards:  ECI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006635	fatty acid beta-oxidation	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0004300	enoyl-CoA hydratase activity	IBA	molecular function
GO:0016863	intramolecular oxidoreductase activity, transposing C=C bonds	ISS	molecular function
GO:0006635	fatty acid beta-oxidation	ISS	biological process
GO:0004165	dodecenoyl-CoA delta-isomerase activity	ISS	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016853	isomerase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0004165	dodecenoyl-CoA delta-isomerase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0004165	dodecenoyl-CoA delta-isomerase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0005739	mitochondrion	HDA	cellular component
GO:0005759	mitochondrial matrix	NAS	cellular component
GO:0006635	fatty acid beta-oxidation	NAS	biological process
GO:0004165	dodecenoyl-CoA delta-isomerase activity	NAS	molecular function
GO:0004165	dodecenoyl-CoA delta-isomerase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa00071	Fatty acid degradation

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R