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Aliases for ECH1 Gene

Aliases for ECH1 Gene

  • Enoyl-CoA Hydratase 1, Peroxisomal 2 3 5
  • Delta3,5-Delta2,4-Dienoyl-Coenzyme A Isomerase 2 3
  • Enoyl Coenzyme A Hydratase 1, Peroxisomal 2 3
  • Delta3,5-Delta2,4-Dienoyl-CoA Isomerase 3
  • Enoyl CoA Hydratase 1, Peroxisomal 3
  • Peroxisomal Enoyl-CoA Hydratase 1 3
  • Dienoyl-CoA Isomerase 3
  • EC 5.3.3.- 4
  • HPXEL 3

External Ids for ECH1 Gene

Previous GeneCards Identifiers for ECH1 Gene

  • GC19M039918
  • GC19M039697
  • GC19M043982
  • GC19M043997
  • GC19M039306
  • GC19M035752

Summaries for ECH1 Gene

Entrez Gene Summary for ECH1 Gene

  • 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 encoded protein, which contains a C-terminal peroxisomal targeting sequence, localizes to the peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators. [provided by RefSeq, Jul 2008]

GeneCards Summary for ECH1 Gene

ECH1 (Enoyl-CoA Hydratase 1, Peroxisomal) is a Protein Coding gene. Among its related pathways are Peroxisome and Valproic Acid Pathway, Pharmacokinetics. GO annotations related to this gene include receptor binding and isomerase activity. An important paralog of this gene is CDY1B.

UniProtKB/Swiss-Prot for ECH1 Gene

  • Isomerization of 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA.

Gene Wiki entry for ECH1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ECH1 Gene

Genomics for ECH1 Gene

Regulatory Elements for ECH1 Gene

Enhancers for ECH1 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 ECH1 on UCSC Golden Path with GeneCards custom track

Promoters for ECH1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ECH1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ECH1 Gene

Chromosome:
19
Start:
38,815,422 bp from pter
End:
38,832,005 bp from pter
Size:
16,584 bases
Orientation:
Minus strand

Genomic View for ECH1 Gene

Genes around ECH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ECH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ECH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ECH1 Gene

Proteins for ECH1 Gene

  • Protein details for ECH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13011-ECH1_HUMAN
    Recommended name:
    Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial
    Protein Accession:
    Q13011
    Secondary Accessions:
    • A8K745
    • Q8WVX0
    • Q96EZ9

    Protein attributes for ECH1 Gene

    Size:
    328 amino acids
    Molecular mass:
    35816 Da
    Quaternary structure:
    • Homohexamer.

    Three dimensional structures from OCA and Proteopedia for ECH1 Gene

neXtProt entry for ECH1 Gene

Proteomics data for ECH1 Gene at MOPED

Post-translational modifications for ECH1 Gene

  • Ubiquitination at Lys 214, Lys 231, and Lys 276
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for ECH1 Gene

Domains & Families for ECH1 Gene

Suggested Antigen Peptide Sequences for ECH1 Gene

Graphical View of Domain Structure for InterPro Entry

Q13011

UniProtKB/Swiss-Prot:

ECH1_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 ECH1: view

No data available for Gene Families for ECH1 Gene

Function for ECH1 Gene

Molecular function for ECH1 Gene

GENATLAS Biochemistry:
peroxisomal matrix protein,enoyl-CoA hydratase-like
UniProtKB/Swiss-Prot Function:
Isomerization of 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA.

Enzyme Numbers (IUBMB) for ECH1 Gene

Gene Ontology (GO) - Molecular Function for ECH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IPI 20178365
genes like me logo Genes that share ontologies with ECH1: view
genes like me logo Genes that share phenotypes with ECH1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ECH1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ECH1 Gene

Localization for ECH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ECH1 Gene

Mitochondrion. Peroxisome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ECH1 Gene COMPARTMENTS Subcellular localization image for ECH1 gene
Compartment Confidence
extracellular 5
mitochondrion 5
peroxisome 5
cytosol 1

Gene Ontology (GO) - Cellular Components for ECH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with ECH1: view

Pathways & Interactions for ECH1 Gene

genes like me logo Genes that share pathways with ECH1: view

Pathways by source for ECH1 Gene

1 BioSystems pathway for ECH1 Gene
1 PharmGKB pathway for ECH1 Gene
1 KEGG pathway for ECH1 Gene

UniProtKB/Swiss-Prot Q13011-ECH1_HUMAN

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

Gene Ontology (GO) - Biological Process for ECH1 Gene

None

No data available for SIGNOR curated interactions for ECH1 Gene

Drugs & Compounds for ECH1 Gene

(1) Additional Compounds for ECH1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-trans,5-cis-Octadienoyl-CoA
  • S-[(3E,5Z)-3,5-Octadienoate
  • S-[(3E,5Z)-3,5-Octadienoate CoA
  • S-[(3E,5Z)-3,5-Octadienoate Coenzyme A
  • S-[(3E,5Z)-3,5-Octadienoic acid
214769-63-8
genes like me logo Genes that share compounds with ECH1: view

Transcripts for ECH1 Gene

Unigene Clusters for ECH1 Gene

Enoyl CoA hydratase 1, peroxisomal:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ECH1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - - - - - - -
SP4: - - - -
SP5: - - -
SP6: - - - -
SP7: - - - -
SP8: - -
SP9: - - - -
SP10: - - -
SP11: - -
SP12: - - -

Relevant External Links for ECH1 Gene

GeneLoc Exon Structure for
ECH1
ECgene alternative splicing isoforms for
ECH1

Expression for ECH1 Gene

mRNA expression in normal human tissues for ECH1 Gene

mRNA differential expression in normal tissues according to GTEx for ECH1 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.8).

Protein differential expression in normal tissues from HIPED for ECH1 Gene

This gene is overexpressed in Liver, secretome (13.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ECH1 Gene



SOURCE GeneReport for Unigene cluster for ECH1 Gene Hs.196176

genes like me logo Genes that share expression patterns with ECH1: view

Protein tissue co-expression partners for ECH1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ECH1 Gene

Orthologs for ECH1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ECH1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ECH1 35
  • 83.02 (n)
  • 78.93 (a)
ECH1 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ECH1 35
  • 84.22 (n)
  • 80.37 (a)
ECH1 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ech1 35
  • 79.92 (n)
  • 74.31 (a)
Ech1 16
Ech1 36
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ECH1 35
  • 97.56 (n)
  • 96.95 (a)
ECH1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ech1 35
  • 79.92 (n)
  • 75.84 (a)
oppossum
(Monodelphis domestica)
Mammalia ECH1 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ECH1 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ECH1 35
  • 67.91 (n)
  • 64.18 (a)
ECH1 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ECH1 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ech1 35
  • 67.02 (n)
  • 71.89 (a)
Str.16617 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.24814 35
zebrafish
(Danio rerio)
Actinopterygii Dr.14998 35
ech1 35
  • 66.67 (n)
  • 70.91 (a)
ech1 36
  • 65 (a)
OneToMany
ECH1 (2 of 2) 36
  • 51 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG9577 37
  • 49 (a)
CG9577 35
  • 61.15 (n)
  • 53.6 (a)
CG9577 36
  • 47 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002661 35
  • 58.21 (n)
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea F58A6.1 37
  • 43 (a)
Y25C1A.13 37
  • 42 (a)
F58A6.1 35
  • 51.04 (n)
  • 45.79 (a)
F58A6.1 36
  • 46 (a)
OneToMany
Y25C1A.13 36
  • 42 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons DCI1 35
  • 47.3 (n)
  • 45.22 (a)
rice
(Oryza sativa)
Liliopsida Os01g0925200 35
  • 53.55 (n)
  • 43.75 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06647 35
  • 54.17 (n)
  • 47.43 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2191 36
  • 63 (a)
OneToOne
Species with no ortholog for ECH1:
  • 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ECH1 Gene

ENSEMBL:
Gene Tree for ECH1 (if available)
TreeFam:
Gene Tree for ECH1 (if available)

Paralogs for ECH1 Gene

Paralogs for ECH1 Gene

(1) SIMAP similar genes for ECH1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with ECH1: view

Variants for ECH1 Gene

Sequence variations from dbSNP and Humsavar for ECH1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs9419 - 38,831,447(-) AGAGG(A/C)GGCTT reference, missense
rs2229259 - 38,816,463(-) TCATC(A/G)GGAAC reference, missense
rs7257284 -- 38,829,649(+) cgttt(A/C)tacta intron-variant
rs7351057 -- 38,832,397(+) CTATA(C/T)GCAGA upstream-variant-2KB
rs8100689 -- 38,823,338(+) ctatc(G/T)ccaag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ECH1 Gene

Variant ID Type Subtype PubMed ID
nsv7307 OTHER Inversion 18451855
nsv911670 CNV Gain 21882294
dgv3859n71 CNV Loss 21882294
nsv175 OTHER Inversion 15895083
nsv9722 CNV Gain 18304495

Variation tolerance for ECH1 Gene

Residual Variation Intolerance Score: 50.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.68; 89.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ECH1 Gene

HapMap Linkage Disequilibrium report
ECH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ECH1 Gene

Disorders for ECH1 Gene

Relevant External Links for ECH1

Genetic Association Database (GAD)
ECH1
Human Genome Epidemiology (HuGE) Navigator
ECH1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ECH1

No disorders were found for ECH1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ECH1 Gene

Publications for ECH1 Gene

  1. Isolation and characterization of rat and human cDNAs encoding a novel putative peroxisomal enoyl-CoA hydratase. (PMID: 7558027) Fitzpatrick D.R. … Valle D. (Genomics 1995) 2 3 4 23 67
  2. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for ECH1 Gene

  • Cloud-Clone Corp. Antibodies for ECH1
  • Cloud-Clone Corp. Proteins for ECH1
  • Cloud-Clone Corp Assay Kits for ECH1

Sources for ECH1 Gene

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