• Gene id: 1892

Gene Summary

• Gene Symbol: ECHS1   Gene   UCSC   Ensembl
• Aliases: ECHS1D, SCEH
• Gene name: enoyl-CoA hydratase, short chain 1
• Alternate names: enoyl-CoA hydratase, mitochondrial, enoyl Coenzyme A hydratase, short chain, 1, mitochondrial, enoyl-CoA hydratase, short chain, 1, mitochondrial, epididymis secretory sperm binding protein, short chain enoyl-CoA hydratase,
• Gene location: 10q26.3 (133373395: 133362479)     Exons: 7     NC_000010.11
• Gene summary(Entrez): The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the h
• OMIM: 602292

Protein Summary

• Protein general information: P30084  
  • Name: Enoyl CoA hydratase, mitochondrial (EC 4.2.1.17) (Enoyl CoA hydratase 1) (Short chain enoyl CoA hydratase) (SCEH)
  • Length: 290  
  • Mass: 31387
  • Tissue specificity: Liver, fibroblast, muscle. Barely detectable in spleen and kidney.
• Sequence:

  MAALRVLLSCVRGPLRPPVRCPAWRPFASGANFEYIIAEKRGKNNTVGLIQLNRPKALNALCDGLIDELNQALKT
  FEEDPAVGAIVLTGGDKAFAAGADIKEMQNLSFQDCYSSKFLKHWDHLTQVKKPVIAAVNGYAFGGGCELAMMCD
  IIYAGEKAQFAQPEILIGTIPGAGGTQRLTRAVGKSLAMEMVLTGDRISAQDAKQAGLVSKICPVETLVEEAIQC
  AEKIASNSKIVVAMAKESVNAAFEMTLTEGSKLEKKLFYSTFATDDRKEGMTAFVEKRKANFKDQ

• Structural information:
  • Interpro: IPR029045  IPR018376  IPR001753  IPR014748  
  • Prosite: PS00166
  • PDB: 2HW5
  • PDBsum: 2HW5
  • STRING: ENSP00000357535
• Other Databases: GeneCards:  ECHS1  Malacards:  ECHS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
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:0006635	fatty acid beta-oxidation	IDA	biological process
GO:0004300	enoyl-CoA hydratase activity	IDA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0004300	enoyl-CoA hydratase activity	TAS	molecular function
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0004300	enoyl-CoA hydratase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
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	TAS	biological process
GO:0006635	fatty acid beta-oxidation	TAS	biological process
GO:0006635	fatty acid beta-oxidation	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:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006635	fatty acid beta-oxidation	IEA	biological process
GO:0005739	mitochondrion	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa01212	Fatty acid metabolism
hsa00310	Lysine degradation
hsa00280	Valine, leucine and isoleucine degradation
hsa00071	Fatty acid degradation
hsa00410	beta-Alanine metabolism
hsa00640	Propanoate metabolism
hsa00380	Tryptophan metabolism
hsa00650	Butanoate metabolism
hsa00062	Fatty acid elongation

Diseases

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

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