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Aliases for ECHS1 Gene

Aliases for ECHS1 Gene

  • Enoyl-CoA Hydratase, Short Chain, 1, Mitochondrial 2 3 5
  • Enoyl Coenzyme A Hydratase, Short Chain, 1, Mitochondrial 2 3
  • EC 4.2.1.17 4 63
  • SCEH 3 4
  • Enoyl CoA Hydratase, Short Chain, 1, Mitochondrial 3
  • Short-Chain Enoyl-CoA Hydratase 4
  • Enoyl-CoA Hydratase 1 4
  • EC 4.2.1 63
  • ECHS1D 3

External Ids for ECHS1 Gene

Previous GeneCards Identifiers for ECHS1 Gene

  • GC10M134090
  • GC10M134305
  • GC10M135092
  • GC10M134649
  • GC10M135064
  • GC10M135025
  • GC10M135175
  • GC10M128720

Summaries for ECHS1 Gene

Entrez Gene Summary for ECHS1 Gene

  • 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 hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008]

GeneCards Summary for ECHS1 Gene

ECHS1 (Enoyl-CoA Hydratase, Short Chain, 1, Mitochondrial) is a Protein Coding gene. Diseases associated with ECHS1 include Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency and Leigh Syndrome With Leukodystrophy. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Tryptophan metabolism. GO annotations related to this gene include enoyl-CoA hydratase activity. An important paralog of this gene is CDY1B.

UniProtKB/Swiss-Prot for ECHS1 Gene

  • Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although with decreasing catalytic rate.

Gene Wiki entry for ECHS1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ECHS1 Gene

Genomics for ECHS1 Gene

Regulatory Elements for ECHS1 Gene

Enhancers for ECHS1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ECHS1 on UCSC Golden Path with GeneCards custom track

Promoters for ECHS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ECHS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ECHS1 Gene

Chromosome:
10
Start:
133,362,480 bp from pter
End:
133,373,689 bp from pter
Size:
11,210 bases
Orientation:
Minus strand

Genomic View for ECHS1 Gene

Genes around ECHS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ECHS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ECHS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ECHS1 Gene

Proteins for ECHS1 Gene

  • Protein details for ECHS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30084-ECHM_HUMAN
    Recommended name:
    Enoyl-CoA hydratase, mitochondrial
    Protein Accession:
    P30084
    Secondary Accessions:
    • O00739
    • Q5VWY1
    • Q96H54

    Protein attributes for ECHS1 Gene

    Size:
    290 amino acids
    Molecular mass:
    31387 Da
    Quaternary structure:
    • Homohexamer; dimer of trimers.

    Three dimensional structures from OCA and Proteopedia for ECHS1 Gene

neXtProt entry for ECHS1 Gene

Proteomics data for ECHS1 Gene at MOPED

Post-translational modifications for ECHS1 Gene

  • Ubiquitination at Lys 261
  • Modification sites at PhosphoSitePlus

Other Protein References for ECHS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ECHS1 Gene

Suggested Antigen Peptide Sequences for ECHS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P30084

UniProtKB/Swiss-Prot:

ECHM_HUMAN :
  • Belongs to the enoyl-CoA hydratase/isomerase family.
Family:
  • Belongs to the enoyl-CoA hydratase/isomerase family.
genes like me logo Genes that share domains with ECHS1: view

No data available for Gene Families for ECHS1 Gene

Function for ECHS1 Gene

Molecular function for ECHS1 Gene

GENATLAS Biochemistry:
mitochondrial short chain enoyl-CoA hydratase,fatty acid beta-oxidation
UniProtKB/Swiss-Prot CatalyticActivity:
(3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl-CoA + H(2)O.
UniProtKB/Swiss-Prot Function:
Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although with decreasing catalytic rate.

Enzyme Numbers (IUBMB) for ECHS1 Gene

genes like me logo Genes that share phenotypes with ECHS1: view

Human Phenotype Ontology for ECHS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for ECHS1

miRNA for ECHS1 Gene

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for ECHS1 Gene

Localization for ECHS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ECHS1 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ECHS1 Gene COMPARTMENTS Subcellular localization image for ECHS1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 2
peroxisome 2

No data available for Gene Ontology (GO) - Cellular Components for ECHS1 Gene

Pathways & Interactions for ECHS1 Gene

genes like me logo Genes that share pathways with ECHS1: view

UniProtKB/Swiss-Prot P30084-ECHM_HUMAN

  • Pathway: Lipid metabolism; fatty acid beta-oxidation.

Gene Ontology (GO) - Biological Process for ECHS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with ECHS1: view

No data available for SIGNOR curated interactions for ECHS1 Gene

Drugs & Compounds for ECHS1 Gene

(5) Drugs for ECHS1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
4-(N,N-Dimethylamino)Cinnamoyl-Coa Experimental Pharma Target 0
Acetoacetyl-CoA Experimental Pharma Target 0
Hexanoyl-Coenzyme A Experimental Pharma Target 0
Octanoyl-Coenzyme A Experimental Pharma Target 0
Methacrylyl-CoA Experimental Pharma 0

(33) Additional Compounds for ECHS1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
38795-33-4
genes like me logo Genes that share compounds with ECHS1: view

Transcripts for ECHS1 Gene

mRNA/cDNA for ECHS1 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(648) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ECHS1 Gene

Enoyl CoA hydratase, short chain, 1, mitochondrial:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ECHS1 Gene

No ASD Table

Relevant External Links for ECHS1 Gene

GeneLoc Exon Structure for
ECHS1
ECgene alternative splicing isoforms for
ECHS1

Expression for ECHS1 Gene

mRNA expression in normal human tissues for ECHS1 Gene

mRNA differential expression in normal tissues according to GTEx for ECHS1 Gene

This gene is overexpressed in Liver (x8.1) and Kidney - Cortex (x4.2).

Protein differential expression in normal tissues from HIPED for ECHS1 Gene

This gene is overexpressed in Liver (12.6), Liver, secretome (9.5), and Kidney (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ECHS1 Gene



SOURCE GeneReport for Unigene cluster for ECHS1 Gene Hs.76394

mRNA Expression by UniProt/SwissProt for ECHS1 Gene

P30084-ECHM_HUMAN
Tissue specificity: Liver, fibroblast, muscle. Barely detectable in spleen and kidney.
genes like me logo Genes that share expression patterns with ECHS1: view

Protein tissue co-expression partners for ECHS1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ECHS1 Gene

Orthologs for ECHS1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ECHS1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ECHS1 35
  • 85.75 (n)
  • 85.86 (a)
ECHS1 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ECHS1 35
  • 82.23 (n)
  • 85.02 (a)
ECHS1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Echs1 35
  • 85.06 (n)
  • 87.59 (a)
Echs1 16
Echs1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ECHS1 35
  • 91.46 (n)
  • 90.22 (a)
ECHS1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Echs1 35
  • 84.71 (n)
  • 86.9 (a)
oppossum
(Monodelphis domestica)
Mammalia ECHS1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ECHS1 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ECHS1 35
  • 70.21 (n)
  • 72.53 (a)
ECHS1 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia echs1 35
  • 69.45 (n)
  • 73.09 (a)
Str.11027 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.29004 35
zebrafish
(Danio rerio)
Actinopterygii echs1 35
  • 70.33 (n)
  • 73.26 (a)
wufj55e05 35
echs1 36
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6543 37
  • 57 (a)
CG6543 35
  • 62.3 (n)
  • 57.09 (a)
CG6543 36
  • 55 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011833 35
  • 62.27 (n)
  • 59.3 (a)
worm
(Caenorhabditis elegans)
Secernentea T05G5.6 37
  • 61 (a)
Y105E8A.4 37
  • 57 (a)
ech-6 35
  • 59.92 (n)
  • 61.48 (a)
ech-6 36
  • 56 (a)
OneToMany
ech-7 36
  • 55 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7713 35
bread mold
(Neurospora crassa)
Ascomycetes NCU06448 35
  • 55.72 (n)
  • 50.18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4297 36
  • 62 (a)
OneToOne
Species with no ortholog for ECHS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ECHS1 Gene

ENSEMBL:
Gene Tree for ECHS1 (if available)
TreeFam:
Gene Tree for ECHS1 (if available)

Paralogs for ECHS1 Gene

Paralogs for ECHS1 Gene

(4) SIMAP similar genes for ECHS1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ECHS1: view

Variants for ECHS1 Gene

Sequence variations from dbSNP and Humsavar for ECHS1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_022273 -
rs1049951 - 133,370,622(-) GAAGA(C/T)CTTCG reference, missense
VAR_073373 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D)
VAR_073374 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D)
rs4604 -- 133,362,587(-) GCCTG(C/T)GGGTC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ECHS1 Gene

Variant ID Type Subtype PubMed ID
nsv528260 CNV Loss 19592680
dgv328e1 CNV Complex 17122850
nsv896258 CNV Loss 21882294
nsv832036 CNV Loss 17160897
dgv879n71 CNV Loss 21882294
dgv880n71 CNV Loss 21882294
nsv470980 CNV Loss 18288195
dgv2e196 CNV Duplication 17116639
dgv882n71 CNV Loss 21882294
essv9566 CNV CNV 17122850
dgv887n71 CNV Gain 21882294
essv20368 CNV CNV 17122850
nsv428243 CNV Gain 18775914
dgv3e196 CNV Duplication 17116639
esv2750853 CNV Gain 17911159
dgv889n71 CNV Loss 21882294
nsv896314 CNV Gain 21882294
nsv832040 CNV Loss 17160897
nsv467509 CNV Loss 19166990
nsv896316 CNV Gain 21882294
nsv527785 CNV Loss 19592680
nsv470981 CNV Gain 18288195
nsv896317 CNV Loss 21882294
esv4876 CNV Deletion 18987735
esv1004331 CNV Deletion 20482838
esv2662790 CNV Deletion 23128226
esv1281382 CNV Deletion 17803354
dgv35e55 CNV Gain 17911159

Variation tolerance for ECHS1 Gene

Residual Variation Intolerance Score: 36% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.42; 9.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ECHS1 Gene

Human Gene Mutation Database (HGMD)
ECHS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ECHS1 Gene

Disorders for ECHS1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ECHS1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial short-chain enoyl-coa hydratase 1 deficiency
  • enoyl-coa hydratase, short-chain, 1, mitochondrial
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
pyruvate dehydrogenase e1-alpha deficiency
  • pyruvate decarboxylase deficiency
human monocytic ehrlichiosis
  • ehrlichiosis chafeensis
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- elite association - COSMIC cancer census association via MalaCards
Search ECHS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ECHM_HUMAN
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) [MIM:616277]: A severe, autosomal recessive inborn error affecting valine metabolism. Disease features include brain lesions in the basal ganglia, neurodegeneration, delayed psychomotor development, hypotonia, spasticity, and increased lactic acid in serum and cerebral serum fluid. {ECO:0000269 PubMed:25125611, ECO:0000269 PubMed:25393721}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ECHS1

Genetic Association Database (GAD)
ECHS1
Human Genome Epidemiology (HuGE) Navigator
ECHS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ECHS1
genes like me logo Genes that share disorders with ECHS1: view

No data available for Genatlas for ECHS1 Gene

Publications for ECHS1 Gene

  1. Molecular cloning and sequence analysis of the cDNA for human mitochondrial short-chain enoyl-CoA hydratase. (PMID: 8012501) Kanazawa M. … Hashimoto T. (Enzyme Protein 1993) 2 3 4 23 67
  2. ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome. (PMID: 25393721) Sakai C. … Goto Y. (Hum. Mutat. 2015) 2 3
  3. Suppression of virus replication via down-modulation of mitochondrial short chain enoyl-CoA hydratase in human glioblastoma cells. (PMID: 17395278) Takahashi M. … Takahashi H. (Antiviral Res. 2007) 3 23
  4. Human mitochondrial enoyl-CoA hydratase gene (ECHS1): structural organization and assignment to chromosome 10q26.2-q26.3. (PMID: 9073515) Janssen U. … Stoffel W. (Genomics 1997) 3 23
  5. Attenuation of enoyl coenzyme A hydratase 1 expression in colorectal cancer cells using small interfering RNA inhibits cell proliferation and migration. (PMID: 25739098) Zhao Q.M. … Zhang Y.H. (Mol Med Rep 2015) 3

Products for ECHS1 Gene

Sources for ECHS1 Gene

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