Human Gene ECH1 (ENST00000221418.9_7) from GENCODE V47lift37
  Description: enoyl-CoA hydratase 1 (from RefSeq NM_001398.3)
Gencode Transcript: ENST00000221418.9_7
Gencode Gene: ENSG00000104823.9_14
Transcript (Including UTRs)
   Position: hg19 chr19:39,306,062-39,322,434 Size: 16,373 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr19:39,306,253-39,322,412 Size: 16,160 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:39,306,062-39,322,434)mRNA (may differ from genome)Protein (328 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ECH1_HUMAN
DESCRIPTION: RecName: Full=Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial; EC=5.3.3.-; Flags: Precursor;
FUNCTION: Isomerization of 3-trans,5-cis-dienoyl-CoA to 2-trans,4- trans-dienoyl-CoA (By similarity).
PATHWAY: Lipid metabolism; fatty acid beta-oxidation.
SUBUNIT: Homohexamer (By similarity).
INTERACTION: P42858:HTT; NbExp=2; IntAct=EBI-711968, EBI-466029; P40763:STAT3; NbExp=2; IntAct=EBI-711968, EBI-518675;
SUBCELLULAR LOCATION: Mitochondrion (By similarity). Peroxisome (By similarity).
SIMILARITY: Belongs to the enoyl-CoA hydratase/isomerase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 272.85 RPKM in Heart - Left Ventricle
Total median expression: 4698.08 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.3022-0.105 Picture PostScript Text
3' UTR -46.60191-0.244 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001753 - Crotonase_core
IPR018376 - Enoyl-CoA_hyd/isom_CS

Pfam Domains:
PF00378 - Enoyl-CoA hydratase/isomerase
PF16113 - Enoyl-CoA hydratase/isomerase

SCOP Domains:
52096 - ClpP/crotonase

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2VRE - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q13011
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0016853 isomerase activity

Biological Process:
GO:0006625 protein targeting to peroxisome
GO:0006629 lipid metabolic process
GO:0006631 fatty acid metabolic process
GO:0006635 fatty acid beta-oxidation
GO:0008152 metabolic process

Cellular Component:
GO:0005739 mitochondrion
GO:0005777 peroxisome
GO:0005782 peroxisomal matrix
GO:0005829 cytosol
GO:0016020 membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC011792 - Homo sapiens enoyl Coenzyme A hydratase 1, peroxisomal, mRNA (cDNA clone MGC:19561 IMAGE:4300082), complete cds.
GQ900954 - Homo sapiens clone HEL-T-66 epididymis secretory sperm binding protein mRNA, complete cds.
AK291860 - Homo sapiens cDNA FLJ75741 complete cds, highly similar to Homo sapiens enoyl Coenzyme A hydratase 1, peroxisomal (ECH1),mRNA.
BC017408 - Homo sapiens enoyl Coenzyme A hydratase 1, peroxisomal, mRNA (cDNA clone MGC:27221 IMAGE:4306900), complete cds.
U16660 - Homo sapiens peroxisomal enoyl-CoA hydratase-like protein (HPXEL) mRNA, complete cds.
KJ896740 - Synthetic construct Homo sapiens clone ccsbBroadEn_06134 ECH1 gene, encodes complete protein.
KJ896741 - Synthetic construct Homo sapiens clone ccsbBroadEn_06135 ECH1 gene, encodes complete protein.
DQ892926 - Synthetic construct clone IMAGE:100005556; FLH190912.01X; RZPDo839F0476D enoyl Coenzyme A hydratase 1, peroxisomal (ECH1) gene, encodes complete protein.
DQ896175 - Synthetic construct Homo sapiens clone IMAGE:100010635; FLH190908.01L; RZPDo839F0466D enoyl Coenzyme A hydratase 1, peroxisomal (ECH1) gene, encodes complete protein.
CU680054 - Synthetic construct Homo sapiens gateway clone IMAGE:100018114 5' read ECH1 mRNA.
AK301211 - Homo sapiens cDNA FLJ57619 complete cds, highly similar to Delta 3,5-delta 2,4-dienoyl-CoA isomerase, mitochondrial precursor (EC 5.3.3.-).
AK126566 - Homo sapiens cDNA FLJ44603 fis, clone BRACE1000475.
JD510662 - Sequence 491686 from Patent EP1572962.
JD362005 - Sequence 343029 from Patent EP1572962.
JD196290 - Sequence 177314 from Patent EP1572962.
JD402668 - Sequence 383692 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q13011 (Reactome details) participates in the following event(s):

R-HSA-9033233 PEX5S,L binds cargo proteins containing PTS1
R-HSA-9033236 PEX5S,L:Cargo binds PEX13:PEX14 of PEX13:PEX14:PEX2:PEX10:PEX12 (Docking and Translocation Complex)
R-HSA-9033241 Peroxisomal protein import
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A8K745, ECH1 , ECH1_HUMAN, ENST00000221418.1, ENST00000221418.2, ENST00000221418.3, ENST00000221418.4, ENST00000221418.5, ENST00000221418.6, ENST00000221418.7, ENST00000221418.8, NM_001398, Q13011, Q8WVX0, Q96EZ9, uc317daz.1, uc317daz.2
UCSC ID: ENST00000221418.9_7
RefSeq Accession: NM_001398.3
Protein: Q13011 (aka ECH1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.