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Aliases for ECH1 Gene

Aliases for ECH1 Gene

  • Enoyl-CoA Hydratase 1 2 3 5
  • Delta(3,5)-Delta(2,4)-Dienoyl-CoA Isomerase, Mitochondrial 3 4
  • Delta3,5-Delta2,4-Dienoyl-Coenzyme A Isomerase 2 3
  • Enoyl Coenzyme A Hydratase 1, Peroxisomal 2 3
  • Enoyl-CoA Hydratase 1, Peroxisomal 2 3
  • Peroxisomal Enoyl-CoA Hydratase 1 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Delta3,5-Delta2,4-Dienoyl-CoA Isomerase 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) is a Protein Coding gene. Among its related pathways are Peroxisome and Valproic Acid Pathway, Pharmacokinetics. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and isomerase activity. An important paralog of this gene is ECHDC2.

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

Additional gene information for ECH1 Gene

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

Genomics for ECH1 Gene

GeneHancer (GH) Regulatory Elements for ECH1 Gene

Promoters and enhancers for ECH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J038829 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 600.7 +0.5 532 4.6 SP1 ZNF652 CC2D1A ZFX ELF3 MNT SIX5 ZNF148 NKRF POLR2A ECH1 HNRNPL RN7SL566P PLEKHG2 ENSG00000268756 ENSG00000269688 RPS16 ENSG00000225868 LGALS7 LGALS7B
GH19J038810 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 5.7 +15.7 15702 11.1 SP1 CBFA2T2 ZNF148 ZNF121 TRIM24 SP7 PPARG KLF14 PRDM1 EGR1 LGALS4 ZNF573 HNRNPL ENSG00000269688 LGALS7 SUPT5H RN7SL566P ENSG00000225868 RINL PLEKHG2
GH19J038806 Enhancer 1.1 Ensembl ENCODE dbSUPER 5.7 +23.8 23779 2.2 ZNF652 CBFA2T2 MLLT1 MTA1 IKZF1 ZNF512 ZNF24 MTA2 YBX3 ZBTB5 LGALS7B LGALS7 ZFP36 RPS16 ECH1 GC19P038813 LGALS4 GC19M039190 RNU6-140P
GH19J038514 Enhancer 0.9 ENCODE 5.9 +316.6 316611 0.2 ZFX CTCF ZNF121 SP7 KLF14 MLLT1 RAD21 GLIS2 ZBTB33 ARID2 ECH1 LGALS7 ENSG00000269445 GC19P038502 RYR1
GH19J038784 Enhancer 0.9 Ensembl ENCODE 5.3 +47.3 47321 1.1 ZNF121 CEBPG TRIM24 SP1 HNF1A ZNF384 SMARCA4 DPF2 CEBPA GATAD2A LGALS7 ECH1 LGALS7B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ECH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ECH1 gene promoter:
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB
  • MZF-1
  • p300
  • Pax-5
  • PPAR-gamma1
  • PPAR-gamma2
  • TBP

Genomic Locations for ECH1 Gene

Genomic Locations for ECH1 Gene
chr19:38,815,422-38,831,857
(GRCh38/hg38)
Size:
16,436 bases
Orientation:
Minus strand
chr19:39,306,062-39,322,645
(GRCh37/hg19)
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

Post-translational modifications for ECH1 Gene

  • Ubiquitination at posLast=214214, posLast=231231, and isoforms=276
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ECH1 Gene

Domains & Families for ECH1 Gene

Gene Families for ECH1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ECH1 Gene

GenScript: Design optimal peptide antigens:
  • Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial (ECH1_HUMAN)

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

Function for ECH1 Gene

Molecular function for ECH1 Gene

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

Enzyme Numbers (IUBMB) for ECH1 Gene

Phenotypes From GWAS Catalog for ECH1 Gene

Gene Ontology (GO) - Molecular Function for ECH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IPI 20178365
GO:0005515 protein binding IPI 15383276
GO:0016853 isomerase activity IEA --
GO:0051750 delta3,5-delta2,4-dienoyl-CoA isomerase activity IBA 21873635
genes like me logo Genes that share ontologies with ECH1: view
genes like me logo Genes that share phenotypes with ECH1: view

Animal Models for ECH1 Gene

MGI Knock Outs for ECH1:
  • Ech1 Ech1<tm1b(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for ECH1

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for ECH1 - Now 50% OFF >
  • * ECH1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * ECH1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for ECH1

No data available for Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ECH1 gene
Compartment Confidence
peroxisome 5
mitochondrion 4
cytosol 4

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ECH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA 21873635
GO:0005777 peroxisome NAS 7558027
GO:0005782 peroxisomal matrix TAS --
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006625 protein targeting to peroxisome TAS --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation IEA --
genes like me logo Genes that share ontologies with ECH1: view

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

mRNA/cDNA for ECH1 Gene

Unigene Clusters for ECH1 Gene

Enoyl CoA hydratase 1, peroxisomal:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for ECH1 - Now 50% OFF >
  • * ECH1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * ECH1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for ECH1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ECH1 Gene



Protein tissue co-expression partners for ECH1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ECH1 Gene:

ECH1

SOURCE GeneReport for Unigene cluster for ECH1 Gene:

Hs.196176

Evidence on tissue expression from TISSUES for ECH1 Gene

  • Nervous system(4.8)
  • Liver(4.7)
  • Muscle(4.7)
  • Blood(4.4)
  • Eye(4.4)
  • Pancreas(3.8)
  • Kidney(3.6)
  • Intestine(3.3)
  • Lung(3.3)
  • Heart(3.1)
  • Skin(2.5)
  • Lymph node(2.3)
  • Adrenal gland(2.1)
  • Spleen(2)
  • Stomach(2)
genes like me logo Genes that share expression patterns with ECH1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia ECH1 35 34
  • 97.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ECH1 35 34
  • 84.22 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ECH1 35 34
  • 83.02 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ech1 17 35 34
  • 79.92 (n)
rat
(Rattus norvegicus)
Mammalia Ech1 34
  • 79.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ECH1 35
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ECH1 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ECH1 35 34
  • 67.91 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ECH1 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ech1 34
  • 67.02 (n)
Str.16617 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.24814 34
zebrafish
(Danio rerio)
Actinopterygii ech1 35 34
  • 66.67 (n)
OneToMany
ECH1 (2 of 2) 35
  • 51 (a)
OneToMany
Dr.14998 34
fruit fly
(Drosophila melanogaster)
Insecta CG9577 35 36 34
  • 61.15 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002661 34
  • 58.21 (n)
worm
(Caenorhabditis elegans)
Secernentea F58A6.1 35 36 34
  • 51.04 (n)
OneToMany
Y25C1A.13 35 36
  • 42 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons DCI1 34
  • 47.3 (n)
rice
(Oryza sativa)
Liliopsida Os01g0925200 34
  • 53.55 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2191 35
  • 63 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU06647 34
  • 54.17 (n)
Species where no ortholog for ECH1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ECH1: view image

Paralogs for ECH1 Gene

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

  • ECH1_HUMAN
  • M0QXS7_HUMAN
  • M0QZF6_HUMAN
  • M0QZW4_HUMAN
  • M0QZX8_HUMAN
  • M0R1A2_HUMAN
  • M0R248_HUMAN
  • M0R280_HUMAN
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 Variation AA Info Type
rs2229259 benign, not provided, - 38,816,463(-) C/T coding_sequence_variant, missense_variant
rs9419 benign, not provided, - 38,831,447(-) T/G 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs201526955 uncertain-significance, not provided 38,831,069(-) G/A/C intron_variant
rs117820732 benign, not provided 38,831,774(-) G/T 5_prime_UTR_variant
rs15570 benign, not provided 38,817,550(-) C/T coding_sequence_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
nsv175 OTHER inversion 15895083
nsv7307 OTHER inversion 18451855
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)

Additional Variant Information for ECH1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ECH1

SNP Genotyping and Copy Number Assay Products

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

Disorders for ECH1 Gene

Additional Disease Information for ECH1

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

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 DR … Valle D (Genomics 1995) 2 3 4 23 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis. (PMID: 30575818) Tiemann K … Kani K (Oncogene 2019) 3 58
  5. Deubiquitinating enzyme PSMD14 promotes tumor metastasis through stabilizing SNAIL in human esophageal squamous cell carcinoma. (PMID: 29331416) Zhu R … Liu Z (Cancer letters 2018) 3 58

Products for ECH1 Gene

Sources for ECH1 Gene

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