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Aliases for EHHADH Gene

Aliases for EHHADH Gene

  • Enoyl-CoA, Hydratase/3-Hydroxyacyl CoA Dehydrogenase 2 3
  • Enoyl-Coenzyme A, Hydratase/3-Hydroxyacyl Coenzyme A Dehydrogenase 2 3
  • ECHD 3 4
  • PBFE 3 4
  • PBE 3 4
  • L-Bifunctional Protein, Peroxisomal 3
  • L-3-Hydroxyacyl-CoA Dehydrogenase 3
  • Peroxisomal Enoyl-CoA Hydratase 3
  • 3,2-Trans-Enoyl-CoA Isomerase 3
  • FRTS3 3
  • L-PBE 3
  • LBFP 3
  • LBP 3

External Ids for EHHADH Gene

Previous HGNC Symbols for EHHADH Gene

  • ECHD

Previous GeneCards Identifiers for EHHADH Gene

  • GC03M181831
  • GC03M186092
  • GC03M186310
  • GC03M186229
  • GC03M186391
  • GC03M184908
  • GC03M182318

Summaries for EHHADH Gene

Entrez Gene Summary for EHHADH Gene

  • The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

GeneCards Summary for EHHADH Gene

EHHADH (Enoyl-CoA, Hydratase/3-Hydroxyacyl CoA Dehydrogenase) is a Protein Coding gene. Diseases associated with EHHADH include fanconi renotubular syndrome 3 and primary fanconi syndrome. Among its related pathways are Immune System and IL6-mediated signaling events. GO annotations related to this gene include receptor binding and oxidoreductase activity. An important paralog of this gene is HADHA.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EHHADH Gene

Genomics for EHHADH Gene

Regulatory Elements for EHHADH Gene

Genomic Location for EHHADH Gene

Chromosome:
3
Start:
185,190,624 bp from pter
End:
185,282,886 bp from pter
Size:
92,263 bases
Orientation:
Minus strand

Genomic View for EHHADH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EHHADH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EHHADH Gene

Proteins for EHHADH Gene

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

    Protein Symbol:
    Q08426-ECHP_HUMAN
    Recommended name:
    Peroxisomal bifunctional enzyme
    Protein Accession:
    Q08426
    Secondary Accessions:
    • A8K6Y3
    • B4DWG3
    • D3DNU0
    • Q58EZ5

    Protein attributes for EHHADH Gene

    Size:
    723 amino acids
    Molecular mass:
    79495 Da
    Quaternary structure:
    • Monomer
    Miscellaneous:
    • Absent in patients suffering with peroxisomal disorders such as Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease

    Alternative splice isoforms for EHHADH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EHHADH Gene

Proteomics data for EHHADH Gene at MOPED

Post-translational modifications for EHHADH Gene

  • Acetylated, leading to enhanced enzyme activity. Acetylation is enhanced by up to 80% after treatment either with trichostin A (TSA) or with nicotinamide (NAM) with highest increase on Lys-346. Acetylation and enzyme activity increased by about 1.5% on addition of fatty acids.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EHHADH Gene

Antibody Products

No data available for DME Specific Peptides for EHHADH Gene

Domains & Families for EHHADH Gene

Graphical View of Domain Structure for InterPro Entry

Q08426

UniProtKB/Swiss-Prot:

ECHP_HUMAN :
  • In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family.
Family:
  • In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family.
  • In the C-terminal section; belongs to the 3-hydroxyacyl-CoA dehydrogenase family.
genes like me logo Genes that share domains with EHHADH: view

No data available for Gene Families for EHHADH Gene

Function for EHHADH Gene

Molecular function for EHHADH Gene

GENATLAS Biochemistry:
peroxisomal bifunctional enzyme (matrix),including enoyl-CoA hydratase (3-hydroxyacyl-CoA-dehydratase) and 3-hydroxyacyl-CoA dehydrogenase,catalyzing the second and third step of peroxisomal fatty acid beta-oxidation of very long chain fatty acids,branched chain FA and bile intermediates
UniProtKB/Swiss-Prot CatalyticActivity:
(3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl-CoA + H(2)O
UniProtKB/Swiss-Prot CatalyticActivity:
(3Z)-dodec-3-enoyl-CoA = (2E)-dodec-2-enoyl-CoA
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH
UniProtKB/Swiss-Prot EnzymeRegulation:
Enzyme activity enhanced by acetylation.

Gene Ontology (GO) - Molecular Function for EHHADH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity NAS 8188243
GO:0004165 dodecenoyl-CoA delta-isomerase activity IEA --
GO:0004300 enoyl-CoA hydratase activity NAS 8188243
GO:0005102 receptor binding IPI 20178365
genes like me logo Genes that share ontologies with EHHADH: view
genes like me logo Genes that share phenotypes with EHHADH: view

Animal Models for EHHADH Gene

MGI Knock Outs for EHHADH:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EHHADH Gene

Localization for EHHADH Gene

Subcellular locations from UniProtKB/Swiss-Prot for EHHADH Gene

Peroxisome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EHHADH Gene COMPARTMENTS Subcellular localization image for EHHADH gene
Compartment Confidence
cytoskeleton 5
peroxisome 5
cytosol 2
mitochondrion 2
nucleus 1

Gene Ontology (GO) - Cellular Components for EHHADH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005777 peroxisome NAS 8188243
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with EHHADH: view

Pathways & Interactions for EHHADH Gene

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

PCR Array Products

UniProtKB/Swiss-Prot Q08426-ECHP_HUMAN

  • Pathway: Lipid metabolism; fatty acid beta-oxidation

Gene Ontology (GO) - Biological Process for EHHADH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006475 internal protein amino acid acetylation IDA 20167786
GO:0006631 fatty acid metabolic process --
GO:0006635 fatty acid beta-oxidation NAS 8188243
GO:0008152 metabolic process --
GO:0055114 oxidation-reduction process --
genes like me logo Genes that share ontologies with EHHADH: view

No data available for SIGNOR curated interactions for EHHADH Gene

Drugs & Compounds for EHHADH Gene

(8) Drugs for EHHADH Gene - From: HMDB, DrugBank, and NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clofibrate Approved Pharma Agonist 2
Acetoacetyl-CoA Experimental Pharma 0
Methacrylyl-CoA Experimental Pharma 0
cholesterol Experimental Pharma Agonist 0
NADH Nutra Target 0

(53) Additional Compounds for EHHADH Gene - From: HMDB and NovoSeek

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 EHHADH: view

Transcripts for EHHADH Gene

Unigene Clusters for EHHADH Gene

Enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EHHADH

Flow Cytometry Products

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

No ASD Table

Relevant External Links for EHHADH Gene

GeneLoc Exon Structure for
EHHADH
ECgene alternative splicing isoforms for
EHHADH

Expression for EHHADH Gene

mRNA expression in normal human tissues for EHHADH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x22.4) and Kidney - Cortex (x6.4).

Protein differential expression in normal tissues from HIPED for EHHADH Gene

This gene is overexpressed in Liver (37.1) and Kidney (16.0).

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



SOURCE GeneReport for Unigene cluster for EHHADH Gene Hs.429879

mRNA Expression by UniProt/SwissProt for EHHADH Gene

Q08426-ECHP_HUMAN
Tissue specificity: Liver and kidney. Strongly expressed in the terminal segments of the proximal tubule. Lower amounts seen in the brain.
genes like me logo Genes that share expression patterns with EHHADH: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for EHHADH Gene

Orthologs for EHHADH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EHHADH Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EHHADH 35
  • 85.71 (n)
  • 82.99 (a)
EHHADH 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EHHADH 35
  • 88.06 (n)
  • 86.03 (a)
EHHADH 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ehhadh 35
  • 80.73 (n)
  • 78.27 (a)
Ehhadh 16
Ehhadh 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EHHADH 35
  • 99.54 (n)
  • 99.31 (a)
EHHADH 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ehhadh 35
  • 79.96 (n)
  • 77.84 (a)
oppossum
(Monodelphis domestica)
Mammalia EHHADH 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EHHADH 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves EHHADH 35
  • 66.67 (n)
  • 63.21 (a)
EHHADH 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EHHADH 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ehhadh 35
  • 58.88 (n)
  • 54.36 (a)
zebrafish
(Danio rerio)
Actinopterygii ehhadh 35
  • 57.38 (n)
  • 55.15 (a)
ehhadh 36
  • 55 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F01G10.2 37
  • 29 (a)
F01G10.3 37
  • 32 (a)
ech-8 36
  • 30 (a)
OneToMany
ech-9 36
  • 32 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AIM1 35
  • 46.52 (n)
  • 37.31 (a)
rice
(Oryza sativa)
Liliopsida Os02g0274100 35
  • 47.15 (n)
  • 36.4 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToMany
-- 36
  • 46 (a)
OneToMany
Species with no ortholog for EHHADH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • bread mold (Neurospora crassa)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 EHHADH Gene

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

Paralogs for EHHADH Gene

Paralogs for EHHADH Gene

(2) SIMAP similar genes for EHHADH Gene using alignment to 3 proteins:

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

Variants for EHHADH Gene

Sequence variations from dbSNP and Humsavar for EHHADH Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs719393 -- 185,229,634(-) TGCTT(C/T)TGAGA intron-variant
rs721814 -- 185,207,596(+) gatcc(C/T)acaat intron-variant
rs995417 -- 185,215,584(-) gttgt(A/G/T)taacc intron-variant
rs1017185 -- 185,267,508(-) atctt(C/T)gggga intron-variant
rs1042437 - 185,192,605(-) TTCCA(A/C)ATTCC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv829817 CNV Gain 17160897
esv2603028 CNV Deletion 19546169
esv2726321 CNV Deletion 23290073
esv2726322 CNV Deletion 23290073
esv1781161 CNV Deletion 17803354
esv2726323 CNV Deletion 23290073
esv2726324 CNV Deletion 23290073
esv2389688 CNV Deletion 18987734
esv1007727 CNV Deletion 20482838
esv1439528 CNV Deletion 17803354

Variation tolerance for EHHADH Gene

Residual Variation Intolerance Score: 98.74% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.29; 90.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EHHADH Gene

HapMap Linkage Disequilibrium report
EHHADH
Human Gene Mutation Database (HGMD)
EHHADH

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

Disorders for EHHADH Gene

MalaCards: The human disease database

(12) MalaCards diseases for EHHADH Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
fanconi renotubular syndrome 3
  • frts3
primary fanconi syndrome
  • primary fanconi renotubular syndrome
bifunctional enzyme deficiency
  • d-bifunctional protein deficiency
d-bifunctional protein deficiency
  • 17-beta-hydroxysteroid dehydrogenase iv deficiency
trifunctional protein deficiency
  • mtp deficiency
- elite association

UniProtKB/Swiss-Prot

ECHP_HUMAN
  • Fanconi renotubular syndrome 3 (FRTS3) [MIM:615605]: A disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. {ECO:0000269 PubMed:24401050}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EHHADH

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

No data available for Genatlas for EHHADH Gene

Publications for EHHADH Gene

  1. cDNA cloning of the human peroxisomal enoyl-CoA hydratase: 3- hydroxyacyl-CoA dehydrogenase bifunctional enzyme and localization to chromosome 3q26.3-3q28: a free left Alu Arm is inserted in the 3' noncoding region. (PMID: 8188243) Hoefler G. … Chen G.L. (Genomics 1994) 2 23 67
  2. Transcriptional regulation and molecular characterization of the manA gene encoding the biofilm dispersing enzyme mannan endo-1,4-beta-mannosidase in Xanthomonas campestris. (PMID: 20073482) Hsiao Y.M. … Tseng Y.H. (J. Agric. Food Chem. 2010) 23 67
  3. Anti-cancer effect of Betulin on a human lung cancer cell line: a pharmacoproteomic approach using 2 D SDS PAGE coupled with nano-HPLC tandem Mass Spectrometry. (PMID: 19085751) Pyo J.S. … Park J.H. (Planta Med. 2009) 23 67
  4. Application of the SILAC (stable isotope labelling with amino acids in cell culture) technique in quantitative comparisons for tissue proteome expression. (PMID: 19250064) Xu Y. … Wei Y. (Biotechnol. Appl. Biochem. 2009) 23 67
  5. Clp and RpfF up-regulate transcription of pelA1 gene encoding the major pectate lyase in Xanthomonas campestris pv. campestris. (PMID: 19601664) Hsiao Y.M. … Tseng Y.H. (J. Agric. Food Chem. 2009) 23 67

Products for EHHADH Gene

Sources for EHHADH Gene

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