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Aliases for EHHADH Gene

Aliases for EHHADH Gene

  • Enoyl-CoA, Hydratase/3-Hydroxyacyl CoA Dehydrogenase 2 3
  • PBFE 3 4 6
  • Enoyl-Coenzyme A, Hydratase/3-Hydroxyacyl Coenzyme A Dehydrogenase 2 3
  • FRTS3 3 6
  • ECHD 3 4
  • LBFP 3 6
  • PBE 3 4
  • L-Bifunctional Protein, Peroxisomal 3
  • L-3-Hydroxyacyl-CoA Dehydrogenase 3
  • Peroxisomal Bifunctional Enzyme 3
  • Peroxisomal Enoyl-CoA Hydratase 3
  • 3,2-Trans-Enoyl-CoA Isomerase 3
  • L-PBE 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 IL6-mediated signaling events and Metabolism. GO annotations related to this gene include receptor binding and coenzyme binding. 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

Start:
185,190,624 bp from pter
End:
185,281,990 bp from pter
Size:
91,367 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

No data available for DME Specific Peptides for EHHADH Gene

Domains for EHHADH Gene

Graphical View of Domain Structure for InterPro Entry

Q08426

UniProtKB/Swiss-Prot:

ECHP_HUMAN :
  • Q08426
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:

miRNA for EHHADH Gene

miRTarBase miRNAs that target EHHADH

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
nucleus 4
cytosol 3
mitochondrion 2

Gene Ontology (GO) - Cellular Components for EHHADH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005737 cytoplasm --
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 for EHHADH Gene

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

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

Compounds for EHHADH Gene

(63) HMDB Compounds for EHHADH Gene

Compound Synonyms Cas Number PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate Coenzyme A
10018-95-8
(2E)-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-CoA
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate Coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
38795-33-4

(1) Drugbank Compounds for EHHADH Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target

(12) Novoseek inferred chemical compound relationships for EHHADH Gene

Compound -log(P) Hits PubMed IDs
cetaben 90.8 1
3-methylglutaconyl-coa 85.5 1
pristanic acid 76.8 1
acyl-coa 76 7
3-oxoacyl-coa 75 2
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:

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 (22.4) and Kidney - Cortex (6.4).

Integrated Proteomics: protein expression 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 expressions with EHHADH: view

Orthologs for EHHADH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EHHADH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EHHADH 35
  • 99.54 (n)
  • 99.31 (a)
EHHADH 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia EHHADH 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EHHADH 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ehhadh 35
  • 79.96 (n)
  • 77.84 (a)
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 ech-8 36
  • 30 (a)
OneToMany
ech-9 36
  • 32 (a)
OneToMany
F01G10.2 37
  • 29 (a)
F01G10.3 37
  • 32 (a)
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

Selected 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)taacc intron-variant
rs1042437 - 185,192,605(-) TTCCA(A/C)ATTCC reference, missense
rs1042438 - 185,192,582(-) GAAAA(A/C)CCCAT 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

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

(1) OMIM Diseases for EHHADH Gene (607037)

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.

(1) University of Copenhagen DISEASES for EHHADH Gene

(6) Novoseek inferred disease relationships for EHHADH Gene

Disease -log(P) Hits PubMed IDs
d-bifunctional protein deficiency 96 8
zellweger syndrome 63.4 2
adrenoleukodystrophy 55 2
hepatomegaly 23.5 1
hepatocellular carcinoma 1.72 2

Relevant External Links for EHHADH

Genetic Association Database (GAD)
EHHADH
Human Genome Epidemiology (HuGE) Navigator
EHHADH
genes like me logo Genes that share disorders with EHHADH: view

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 3 4 23
  2. Import of human bifunctional enzyme into peroxisomes of human hepatoma cells in vitro. (PMID: 1651711) Chen G.L. … Chen W.W. (Biochem. Biophys. Res. Commun. 1991) 3 4
  3. Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. (PMID: 24401050) Klootwijk E.D. … Kleta R. (N. Engl. J. Med. 2014) 3 4
  4. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y. … Boer J.M. (J. Lipid Res. 2008) 3 48
  5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 48

Products for EHHADH Gene

Sources for EHHADH Gene

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