Human Gene ECHS1 (ENST00000368547.4_7) from GENCODE V47lift37
  Description: enoyl-CoA hydratase, short chain 1 (from RefSeq NM_004092.4)
Gencode Transcript: ENST00000368547.4_7
Gencode Gene: ENSG00000127884.5_9
Transcript (Including UTRs)
   Position: hg19 chr10:135,175,989-135,186,858 Size: 10,870 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr10:135,176,372-135,186,837 Size: 10,466 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:135,175,989-135,186,858)mRNA (may differ from genome)Protein (290 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ECHM_HUMAN
DESCRIPTION: RecName: Full=Enoyl-CoA hydratase, mitochondrial; EC=4.2.1.17; AltName: Full=Enoyl-CoA hydratase 1; AltName: Full=Short-chain enoyl-CoA hydratase; Short=SCEH; Flags: Precursor;
FUNCTION: Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although with decreasing catalytic rate.
CATALYTIC ACTIVITY: (3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl- CoA + H(2)O.
PATHWAY: Lipid metabolism; fatty acid beta-oxidation.
SUBUNIT: Homohexamer; dimer of trimers.
SUBCELLULAR LOCATION: Mitochondrion matrix.
TISSUE SPECIFICITY: Liver, fibroblast, muscle. Barely detectable in spleen and kidney.
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


-  MalaCards Disease Associations
  MalaCards Gene Search: ECHS1
Diseases sorted by gene-association score: mitochondrial short-chain enoyl-coa hydratase 1 deficiency* (1344), leigh syndrome with leukodystrophy* (78), human monocytic ehrlichiosis (6), leigh syndrome (2), mitochondrial metabolism disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 393.90 RPKM in Liver
Total median expression: 3414.45 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 -5.6021-0.267 Picture PostScript Text
3' UTR -136.90383-0.357 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
IPR014748 - Crontonase_C
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
2HW5 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P30084
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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 Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  Ensembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004300 enoyl-CoA hydratase activity
GO:0005515 protein binding
GO:0016829 lyase activity

Biological Process:
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:0005759 mitochondrial matrix


-  Descriptions from all associated GenBank mRNAs
  BC008906 - Homo sapiens enoyl Coenzyme A hydratase, short chain, 1, mitochondrial, mRNA (cDNA clone MGC:1513 IMAGE:2907059), complete cds.
GQ900889 - Homo sapiens clone HEL-T-1 epididymis secretory sperm binding protein mRNA, complete cds.
BC013264 - Homo sapiens enoyl Coenzyme A hydratase, short chain, 1, mitochondrial, mRNA (cDNA clone IMAGE:3875751).
D13900 - Homo sapiens mRNA for mitochondrial short-chain enoyl-CoA hydratase, complete cds.
JD219678 - Sequence 200702 from Patent EP1572962.
JD194006 - Sequence 175030 from Patent EP1572962.
JD025122 - Sequence 6146 from Patent EP1572962.
JD033396 - Sequence 14420 from Patent EP1572962.
JD133221 - Sequence 114245 from Patent EP1572962.
JD125101 - Sequence 106125 from Patent EP1572962.
JD389336 - Sequence 370360 from Patent EP1572962.
JD133963 - Sequence 114987 from Patent EP1572962.
JD257456 - Sequence 238480 from Patent EP1572962.
JD164417 - Sequence 145441 from Patent EP1572962.
JD232535 - Sequence 213559 from Patent EP1572962.
JD506961 - Sequence 487985 from Patent EP1572962.
JD099647 - Sequence 80671 from Patent EP1572962.
JD346826 - Sequence 327850 from Patent EP1572962.
JD167826 - Sequence 148850 from Patent EP1572962.
KJ896742 - Synthetic construct Homo sapiens clone ccsbBroadEn_06136 ECHS1 gene, encodes complete protein.
BT007123 - Homo sapiens enoyl Coenzyme A hydratase, short chain, 1, mitochondrial mRNA, complete cds.
JD477939 - Sequence 458963 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
FAO-PWY - fatty acid β-oxidation
ILEUDEG-PWY - L-isoleucine degradation
PWY-5177 - glutaryl-CoA degradation
PWY-7036 - very long chain fatty acid biosynthesis II
PWY-7606 - docosahexaenoate biosynthesis III (6-desaturase, mammals)
PWY-8182 - valproate β-oxidation
PWY66-391 - fatty acid β-oxidation (peroxisome)
PWY66-401 - superpathway of L-tryptophan utilization
TRYPTOPHAN-DEGRADATION-1 - L-tryptophan degradation (kynurenine pathway)
VALDEG-PWY - L-valine degradation

Reactome (by CSHL, EBI, and GO)

Protein P30084 (Reactome details) participates in the following event(s):

R-HSA-77256 2-trans-Dodecenoyl-CoA+H2O<=>(S)-3-Hydroxydodecanoyl-CoA
R-HSA-77314 Crotonoyl-CoA+H2O<=>(S)-3-Hydroxybutanoyl-CoA
R-HSA-77325 trans-Hex-2-enoyl-CoA+H2O<=>(S)-Hydroxyhexanoyl-CoA
R-HSA-77333 trans-Oct-2-enoyl-CoA+H2O<=>(S)-Hydroxyoctanoyl-CoA
R-HSA-77344 trans-Dec-2-enoyl-CoA+H2O<=>(S)-Hydroxydecanoyl-CoA
R-HSA-77310 Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
R-HSA-77352 Beta oxidation of butanoyl-CoA to acetyl-CoA
R-HSA-77350 Beta oxidation of hexanoyl-CoA to butanoyl-CoA
R-HSA-77348 Beta oxidation of octanoyl-CoA to hexanoyl-CoA
R-HSA-77346 Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA
R-HSA-77286 mitochondrial fatty acid beta-oxidation of saturated fatty acids
R-HSA-77289 Mitochondrial Fatty Acid Beta-Oxidation
R-HSA-8978868 Fatty acid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ECHM_HUMAN, ECHS1 , ENST00000368547.1, ENST00000368547.2, ENST00000368547.3, NM_004092, O00739, P30084, Q5VWY1, Q96H54, uc318gvq.1, uc318gvq.2
UCSC ID: ENST00000368547.4_7
RefSeq Accession: NM_004092.4
Protein: P30084 (aka ECHM_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ECHS1:
echs1-def (Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency)

-  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.