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Aliases for EHHADH Gene

Aliases for EHHADH Gene

  • Enoyl-CoA Hydratase And 3-Hydroxyacyl CoA Dehydrogenase 2 3 5
  • Enoyl-Coenzyme A, Hydratase/3-Hydroxyacyl Coenzyme A Dehydrogenase 2 3
  • ECHD 3 4
  • PBFE 3 4
  • PBE 3 4
  • Enoyl-CoA, Hydratase/3-Hydroxyacyl CoA Dehydrogenase 3
  • 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
  • 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 And 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 Metabolism and superpathway of tryptophan utilization. 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

Enhancers for EHHADH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F185325 1.6 FANTOM5 Ensembl ENCODE 11.3 -46.6 -46578 7.6 ARID4B DMAP1 YY1 SP5 TBX21 KAT8 MIER3 RCOR2 STAT3 NBN MAP3K13 EHHADH RPL4P4
GH03F185316 1.5 FANTOM5 Ensembl ENCODE 11.9 -34.6 -34572 2.3 TBP ZBTB40 RARA YY1 CEBPB NR2F2 MAFF SMARCA4 CEBPA SOX13 MAP3K13 EHHADH C3orf70 RPL4P4
GH03F185354 0.8 ENCODE 10.9 -71.4 -71442 0.2 CTCF TEAD4 ZNF644 RAD21 ZBTB48 POLR2A SCRT2 ZNF143 SMC3 ZSCAN29 MAP3K13 EHHADH C3orf70 RPL4P4
GH03F185308 0.7 ENCODE 11.7 -26.6 -26585 1.6 SOX13 GATAD2A SOX5 SAP130 NR2F1 ARID4B ZNF384 HMG20A ZNF48 RARA MAP3K13 EHHADH C3orf70 RPL4P4
GH03F185309 0.7 ENCODE 11.7 -25.4 -25412 0.2 CTCF ZNF654 TEAD4 CEBPB TRIM22 CEBPG REST RAD21 CEBPA SMC3 MAP3K13 EHHADH C3orf70 RPL4P4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EHHADH on UCSC Golden Path with GeneCards custom track

Promoters for EHHADH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001381492 -314 2000 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF48 BRCA1 ETS1 YY1

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

Genes around EHHADH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EHHADH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 & 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:0003857 3-hydroxyacyl-CoA dehydrogenase activity TAS --
GO:0004165 dodecenoyl-CoA delta-isomerase activity IEA --
GO:0004300 enoyl-CoA hydratase activity NAS 8188243
GO:0005102 receptor binding IPI 20178365
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with EHHADH: view
genes like me logo Genes that share phenotypes with EHHADH: view

Human Phenotype Ontology for EHHADH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EHHADH Gene

MGI Knock Outs for EHHADH:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry 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
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 EHHADH gene
Compartment Confidence
peroxisome 5
mitochondrion 4
cytosol 3
nucleus 2

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:0005782 peroxisomal matrix TAS --
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

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:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation NAS 8188243
GO:0008152 metabolic process IEA --
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

(9) Drugs for EHHADH Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Acetoacetyl-CoA Experimental Pharma 0
Methacrylyl-CoA Experimental Pharma 0
NADH Nutra Target 0
NAD Pharma Full agonist, Agonist 0

(52) 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

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for EHHADH Gene



NURSA nuclear receptor signaling pathways regulating expression of EHHADH Gene:

EHHADH

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

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
chimpanzee
(Pan troglodytes)
Mammalia EHHADH 34 35
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia EHHADH 34 35
  • 88.06 (n)
cow
(Bos Taurus)
Mammalia EHHADH 34 35
  • 85.71 (n)
mouse
(Mus musculus)
Mammalia Ehhadh 34 16 35
  • 80.73 (n)
rat
(Rattus norvegicus)
Mammalia Ehhadh 34
  • 79.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EHHADH 35
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EHHADH 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves EHHADH 34 35
  • 66.67 (n)
lizard
(Anolis carolinensis)
Reptilia EHHADH 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ehhadh 34
  • 58.88 (n)
zebrafish
(Danio rerio)
Actinopterygii ehhadh 34 35
  • 57.38 (n)
worm
(Caenorhabditis elegans)
Secernentea F01G10.3 36
  • 32 (a)
ech-9 35
  • 32 (a)
OneToMany
ech-8 35
  • 30 (a)
OneToMany
F01G10.2 36
  • 29 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AIM1 34
  • 46.52 (n)
rice
(Oryza sativa)
Liliopsida Os02g0274100 34
  • 47.15 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
OneToMany
-- 35
  • 45 (a)
OneToMany
Species where no ortholog for EHHADH was found in the sources mined by GeneCards:
  • 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
rs398124646 Fanconi renotubular syndrome 3 (FRTS3) [MIM:615605], Pathogenic 185,254,016(-) TGGCC(A/G)AGTAT intron-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs1017185 -- 185,267,508(-) atctt(C/T)gggga intron-variant
rs1042437 -- 185,192,605(-) TTCCA(A/C)ATTCC reference, missense
rs1042438 -- 185,192,582(-) GAAAA(A/C)CCCAT reference, missense
rs10433360 -- 185,239,078(+) ttatt(A/G)aagat intron-variant

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

Variant ID Type Subtype PubMed ID
dgv5002n100 CNV gain 25217958
esv1007727 CNV deletion 20482838
esv1439528 CNV deletion 17803354
esv1781161 CNV deletion 17803354
esv2389688 CNV deletion 18987734
esv2603028 CNV deletion 19546169
esv2726321 CNV deletion 23290073
esv2726322 CNV deletion 23290073
esv2726323 CNV deletion 23290073
esv2726324 CNV deletion 23290073
esv3598965 CNV gain 21293372
nsv1074112 CNV deletion 25765185
nsv829817 CNV gain 17160897
nsv955593 CNV deletion 24416366
nsv967099 CNV duplication 23825009

Variation tolerance for EHHADH Gene

Residual Variation Intolerance Score: 98.7% 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

Human Gene Mutation Database (HGMD)
EHHADH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
d-bifunctional protein deficiency
  • 17-beta-hydroxysteroid dehydrogenase iv deficiency
adrenoleukodystrophy
  • adrenomyeloneuropathy, adult
trifunctional protein deficiency
  • abetalipoproteinemia
- elite association - COSMIC cancer census association via MalaCards

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 3 4 22 64
  2. Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. (PMID: 24401050) Klootwijk E.D. … Kleta R. (N. Engl. J. Med. 2014) 3 4 64
  3. Regulation of cellular metabolism by protein lysine acetylation. (PMID: 20167786) Zhao S. … Guan K.L. (Science 2010) 3 4 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 46 64

Products for EHHADH Gene

Sources for EHHADH Gene

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