• Gene id: 1891

Gene Summary

• Gene Symbol: ECH1   Gene   UCSC   Ensembl
• Aliases: HPXEL
• Gene name: enoyl-CoA hydratase 1
• Alternate names: delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial, delta3,5-delta2,4-dienoyl-CoA isomerase, delta3,5-delta2,4-dienoyl-coenzyme A isomerase, dienoyl-CoA isomerase, enoyl Coenzyme A hydratase 1, peroxisomal, enoyl-CoA hydratase 1, peroxisomal, epididymis,
• Gene location: 19q13.2 (26946989: 27066133)     Exons: 25     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conserved domain characteristic of these proteins. The encode
• OMIM: 600696

Protein Summary

• Protein general information: Q13011  
  • Name: Delta(3,5) Delta(2,4) dienoyl CoA isomerase, mitochondrial (EC 5.3.3. )
  • Length: 328  
  • Mass: 35816
• Sequence:

  MAAGIVASRRLRDLLTRRLTGSNYPGLSISLRLTGSSAQEEASGVALGEAPDHSYESLRVTSAQKHVLHVQLNRP
  NKRNAMNKVFWREMVECFNKISRDADCRAVVISGAGKMFTAGIDLMDMASDILQPKGDDVARISWYLRDIITRYQ
  ETFNVIERCPKPVIAAVHGGCIGGGVDLVTACDIRYCAQDAFFQVKEVDVGLAADVGTLQRLPKVIGNQSLVNEL
  AFTARKMMADEALGSGLVSRVFPDKEVMLDAALALAAEISSKSPVAVQSTKVNLLYSRDHSVAESLNYVASWNMS
  MLQTQDLVKSVQATTENKELKTVTFSKL

• Structural information:
  • Interpro: IPR029045  IPR018376  IPR001753  IPR014748  
  • Prosite: PS00166
  • PDB: 2VRE
  • PDBsum: 2VRE
  • STRING: ENSP00000221418
• Other Databases: GeneCards:  ECH1  Malacards:  ECH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051750	delta3,5-delta2,4-dienoyl-CoA isomerase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0016853	isomerase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006625	protein targeting to peroxisome	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0005777	peroxisome	NAS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04146	Peroxisome

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray