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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EHHADH Gene

protein-coding   GIFtS: 61
GCID: GC03M184908

Enoyl-CoA, Hydratase/3-Hydroxyacyl CoA Dehydrogenase

(Previous names: enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase)
(Previous symbol: ECHD)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Enoyl-CoA, Hydratase/3-Hydroxyacyl CoA Dehydrogenase1 2     L-PBE2
ECHD1 2 3     LBP2
PBFE2 3 5     L-3-Hydroxyacyl-CoA Dehydrogenase2
Enoyl-Coenzyme A, Hydratase/3-Hydroxyacyl Coenzyme A Dehydrogenase1 2     L-Bifunctional Protein, Peroxisomal2
PBE2 3     Peroxisomal Bifunctional Enzyme2
LBFP2 5     Peroxisomal Enoyl-CoA Hydratase2
3,2-Trans-Enoyl-CoA Isomerase2     

External Ids:    HGNC: 32471   Entrez Gene: 19622   Ensembl: ENSG000001137907   OMIM: 6070375   UniProtKB: Q084263   

Export aliases for EHHADH gene to outside databases

Previous GC identifers: GC03M181831 GC03M186092 GC03M186310 GC03M186229 GC03M186391 GC03M182318


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 mitochondrial trifunctional protein deficiency, and 3-hydroxyacyl-coenzyme a dehydrogenase deficiency, and among its related super-pathways are Fatty Acid Beta Oxidation and Valine, leucine and isoleucine degradation. GO annotations related to this gene include enzyme binding and nucleotide binding. An important paralog of this gene is HADH.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EHHADH gene promoter:
         TBP   MEF-2   GCNF   HSF1 (long)   PPAR-alpha   MEF-2A   GCNF-1   HSF1short   aMEF-2   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): EHHADH promoter sequence
   Search SABiosciences Chromatin IP Primers for EHHADH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EHHADH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q26.3-q28   Ensembl cytogenetic band:  3q27.2   HGNC cytogenetic band: 3q26.3-q28

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M184908:  view genomic region     (about GC identifiers)

Start:
184,908,412 bp from pter      End:
184,999,778 bp from pter
Size:
91,367 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ECHP_HUMAN, Q08426 (See protein sequence)
Recommended Name: Peroxisomal bifunctional enzyme  
Size: 723 amino acids; 79495 Da
Subunit: Monomer
Subcellular location: Peroxisome
Miscellaneous: Absent in patients suffering with peroxisomal disorders such as Zellweger syndrome, neonatal
adrenoleukodystrophy and infantile Refsum disease
Secondary accessions: A8K6Y3 B4DWG3 D3DNU0 Q58EZ5
Alternative splicing: 2 isoforms:  Q08426-1   Q08426-2   

Explore the universe of human proteins at neXtProt for EHHADH: NX_Q08426

Explore proteomics data for EHHADH at MOPED 

Post-translational modifications:

  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q08426

  • EHHADH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EHHADH Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001159887.1  NP_001957.2  

    ENSEMBL proteins: 
     ENSP00000231887   ENSP00000387746   ENSP00000396798  

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    Cloud-Clone Corp. Proteins for EHHADH 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IEA--
    GO:0005777peroxisome NAS8188243

    EHHADH for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 InterPro protein domains (see all 8):
     IPR018376 Enoyl-CoA_hyd/isom_CS
     IPR008927 6-PGluconate_DH_C-like
     IPR013328 DH_multihelical
     IPR006176 3-OHacyl-CoA_DH_NAD-bd
     IPR006108 3HC_DH_C

    Graphical View of Domain Structure for InterPro Entry Q08426

    ProtoNet protein and cluster: Q08426

    3 Blocks protein domains:
    IPB001753 Enoyl-CoA hydratase/isomerase
    IPB006176 3-hydroxyacyl-CoA dehydrogenase
    IPB006180 3-hydroxyacyl-CoA dehydrogenase


    UniProtKB/Swiss-Prot: ECHP_HUMAN, Q08426
    Similarity: In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family
    Similarity: In the C-terminal section; belongs to the 3-hydroxyacyl-CoA dehydrogenase family


    EHHADH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ECHP_HUMAN, Q08426
    Catalytic activity: (3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl-CoA + H(2)O
    Catalytic activity: (3Z)-dodec-3-enoyl-CoA = (2E)-dodec-2-enoyl-CoA
    Catalytic activity: (S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH
    Enzyme regulation: Enzyme activity enhanced by acetylation

         Genatlas biochemistry entry for EHHADH:
    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

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:00038573-hydroxyacyl-CoA dehydrogenase activity NAS8188243
    GO:0004165dodecenoyl-CoA delta-isomerase activity IEA--
    GO:0004300enoyl-CoA hydratase activity NAS8188243
    GO:0005102receptor binding IPI--
         
    EHHADH for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ehhadh):
     behavior/neurological  cellular  growth/size  homeostasis/metabolism  liver/biliary system 
     mortality/aging  muscle  nervous system 

    EHHADH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ehhadhtm1Jkr for EHHADH

       inGenious Targeting Laboratory - Custom generated mouse model solutions for EHHADH 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EHHADH 
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    SwitchGear 3'UTR luciferase reporter plasmidEHHADH 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for EHHADH About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Fatty Acid Beta Oxidation
    Mitochondrial LC-Fatty Acid Beta-Oxidation0.35
    Fatty acid degradation0.32
    2Branched-chain amino acid catabolism
    Valine, leucine and isoleucine degradation0.39
    Propanoate metabolism0.31
    3fatty acid activation
    fatty acid beta-oxidation VI (peroxisome)0.46
    4Tryptophan metabolism
    Tryptophan metabolism0.46
    5Metabolism
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for EHHADH
        fatty acid beta-oxidation VI (peroxisome)
    Mitochondrial LC-Fatty Acid Beta-Oxidation
    fatty acid beta-oxidation III (unsaturated, odd number)



    5/10         Kegg Pathways  (Kegg details for EHHADH) (see all 10):
        Fatty acid degradation
    Valine, leucine and isoleucine degradation
    Lysine degradation
    Tryptophan metabolism
    beta-Alanine metabolism

    UniProtKB/Swiss-Prot: ECHP_HUMAN, Q08426
    Pathway: Lipid metabolism; fatty acid beta-oxidation


    EHHADH for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for EHHADH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/41 Interacting proteins for EHHADH (Q084263 ENSP000002318874) via UniProtKB, MINT, STRING, and/or I2D (see all 41)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    SCP2P223073, ENSP000003605694I2D: score=1 STRING: ENSP00000360569
    TSG101Q998163, ENSP000002519684I2D: score=1 STRING: ENSP00000251968
    AACSENSP000003248424STRING: ENSP00000324842
    ACAA1ENSP000003336644STRING: ENSP00000333664
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006475internal protein amino acid acetylation IDA--
    GO:0006631fatty acid metabolic process ----
    GO:0006635fatty acid beta-oxidation NAS8188243
    GO:0008152metabolic process ----
    GO:0055114oxidation-reduction process ----

    EHHADH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    EHHADH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for EHHADH (ECHP)

    10/63 HMDB Compounds for EHHADH (see all 63)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    (2S,6R,10R)-Trimethyl-2E-hendecenoyl-CoA(2E,6R)-2,6,10-trimethylhendecenoyl-CoA (see all 8)----
    (3E,5Z,8Z)-Tetradecatrienoyl-CoAtrans-3-cis,cis-5,8-tetradecatrienoyl-CoA (see all 6)----
    (3S)-3-Hydroxy-cis,cis-palmito-7,10-dienoyl-CoA(3S)-3-hydroxy-cis,cis-hexadeca-7,10-dienoyl-CoA (see all 9)----
    (3S)-3-Hydroxy-cis-8-tetradecenoyl-CoA(3S)-hydroxy-(8Z)-tetradecenoyl-CoA (see all 4)----
    (3S)-3-Hydroxyadipyl-CoA(3S)-3-Hydroxyadipyl-CoEnzyme A ----

    1 DrugBank Compound for EHHADH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423

    10/12 Novoseek inferred chemical compound relationships for EHHADH gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cetaben 90.8 2 8620053 (1)
    3-methylglutaconyl-coa 85.5 1 12655555 (1)
    pristanic acid 76.8 1 9482850 (1)
    acyl-coa 76 8 11356171 (1), 11455451 (1), 1690188 (1), 1351742 (1) (see all 7)
    3-oxoacyl-coa 75 2 1690188 (1), 8620053 (1)
    clofibrate 54.1 1 7656903 (1)
    fatty acid 52.8 4 11356171 (1), 15299399 (1), 10190314 (1), 10727085 (1)
    sterol 28.9 2 15060085 (1)
    leucine 14.7 1 15810013 (1)
    glutamate 1.85 3 10727085 (1), 15810013 (1), 10413528 (1)

    Search CenterWatch for drugs/clinical trials and news about EHHADH / ECHP

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for EHHADH gene (2 alternative transcripts): 
    NM_001166415.1  NM_001966.3  

    Unigene Cluster for EHHADH:

    Enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
    Hs.429879  [show with all ESTs]
    Unigene Representative Sequence: NM_001166415
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000231887(uc011brs.2 uc003fpf.3) ENST00000456310 ENST00000483104
    ENST00000475987 ENST00000440662 ENST00000465178
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    Additional mRNA sequence: 

    AK223460.1 AK291798.1 AK301521.1 BC011030.1 BC030982.1 BC038948.1 BC110460.2 L07077.1 
    S50245.1 

    6 DOTS entries:

    DT.452704  DT.91759101  DT.120846417  DT.91759098  DT.92038091  DT.97804791 

    24/74 AceView cDNA sequences (see all 74):

    BC030982 BC038948 BU735221 BP356568 BM974427 T80863 AL691622 BF510336 
    AV687221 L07077 AK057732 AW235485 CB127908 H54197 W88658 BX474868 
    BM716448 AV682617 H47825 AV682557 BE789139 NM_001966 BM844973 R01826 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EHHADH expression in normal human tissues (normalized intensities)      EHHADH embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAATGGTCT
    EHHADH Expression
    About this image


    EHHADH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Midbrain tegmentum
             brain/midbrain   
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Inner Cell Mass (Early Embryonic Tissues)
             Line H9 (WA09)
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Kidney (Urinary System)

    See EHHADH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EHHADH

    SOURCE GeneReport for Unigene cluster: Hs.429879

    UniProtKB/Swiss-Prot: ECHP_HUMAN, Q08426
    Tissue specificity: Liver and kidney. Lower amounts seen in the brain

        SABiosciences Expression via Pathway-Focused PCR Arrays including EHHADH: 
              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism I in human mouse rat
              PPAR Targets in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for EHHADH gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ehhadh1 , 5 enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme more1, 5 80.73(n)1
    78.27(a)1
      16 (12.86 cM)5
    741471  NM_023737.31  NP_076226.21 
     217612875 
    chicken
    (Gallus gallus)
    Aves EHHADH1 enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 66.67(n)
    63.21(a)
      424877  XM_422690.3  XP_422690.2 
    lizard
    (Anolis carolinensis)
    Reptilia EHHADH6
    Uncharacterized protein
    60(a)
    1 ↔ 1
    3(34518297-34539405)
    zebrafish
    (Danio rerio)
    Actinopterygii ehhadh1 enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme more 57.47(n)
    55.15(a)
      100000859  NM_207068.1  NP_996951.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F01G10.33 enoyl-CoA hydratase 32(a)
    (best of 2)
      IV(10233810-10235293)   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MFP21 enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase 44.87(n)
    34.6(a)
      819870  NM_111566.3  NP_187342.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g01550001 hypothetical protein 45.98(n)
    35.11(a)
      4337848  NM_001061222.1  NP_001054687.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EHHADH gene
    HADH2  HADHA2  
    2 SIMAP similar genes for EHHADH using alignment to 3 protein entries:     ECHP_HUMAN (see all proteins):
    ECHS1    HADHA

    EHHADH for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1241 SNPs in EHHADH are shown (see all 1241)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1136802871,2
    C,F--184776838(+) CTCACG/CCCTGT 2 -- ds50012Minor allele frequency- C:0.50WA CSA 4
    rs1424338571,2
    --184776847(+) GTAATC/GCCAGC 2 -- ds50010--------
    rs1834101691,2
    --184776928(+) CCCTGC/TCTCTA 2 -- ds50010--------
    rs1493105671,2
    --184776961(+) CAGGCA/GTGGTG 2 -- ds50010--------
    rs1445506781,2
    --184776971(+) GGCGGA/GCACCT 2 -- ds50010--------
    rs1162350421,2
    F--184777035(+) GCAGAG/TCTTTC 2 -- ds50011Minor allele frequency- T:0.03WA 118
    rs73494941,2
    C--184777071(+) ctccaG/Tcctgg 2 -- ds50010--------
    rs2022120921,2
    --184777128(+) AAAAC-/AAAAAA 2 -- ds50010--------
    rs569667861,2
    C,F--184777137(+) AAAAAC/ACCCCT 2 -- ds50017Minor allele frequency- A:0.14WA NA CSA EA 366
    rs1864722471,2
    --184777138(+) AAAACA/CCCCTT 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for EHHADH (184908412 - 184999778 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for EHHADH:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1439528CNV Deletion17803354
    esv2389688CNV Deletion18987734
    esv1007727CNV Deletion20482838
    esv2726323CNV Deletion23290073
    esv2726322CNV Deletion23290073
    esv1781161CNV Deletion17803354
    esv2726321CNV Deletion23290073
    esv2603028CNV Deletion19546169
    esv2726324CNV Deletion23290073
    nsv829817CNV Gain17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607037    OMIM disorders: --

    20/23 diseases for EHHADH (see all 23):    About MalaCards
    mitochondrial trifunctional protein deficiency    3-hydroxyacyl-coenzyme a dehydrogenase deficiency    d-bifunctional protein deficiency    3-methylglutaconic aciduria
    clonorchiasis    neonatal adrenoleukodystrophy    zellweger syndrome    peroxisome disorders
    infantile refsum disease    refsum disease    protein s deficiency    adrenoleukodystrophy
    mouth disease    hepatoblastoma    hepatocellular carcinoma    renal cell carcinoma
    hepatitis c    hypertension    retinitis    colorectal cancer

    1 disease from the University of Copenhagen DISEASES database for EHHADH:
    Zellweger syndrome

    EHHADH for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for EHHADH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    d-bifunctional protein deficiency 96 11 9228246 (2), 9187482 (2), 7629669 (1), 10400999 (1) (see all 6)
    zellweger syndrome 63.4 3 8967760 (1), 9501266 (1)
    adrenoleukodystrophy 55 4 11356171 (1), 15060085 (1)
    hepatomegaly 23.5 2 9501266 (1)
    hepatocellular carcinoma 1.72 2 10190314 (1), 7955115 (1)
    carcinoma 0 1 1359694 (1)

    Genetic Association Database (GAD): EHHADH
    Human Genome Epidemiology (HuGE) Navigator: EHHADH (3 documents)

    Export disorders for EHHADH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for EHHADH gene, integrated from 9 sources (see all 110):
    (articles sorted by number of sources associating them with EHHADH)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 8188243)1, 2, 3, 9 Hoefler G....Chen G.L. (1994)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. A genome-wide study of common SNPs and CNVs in cognit ive performance in the CANTAB. (PubMed id 19734545)1, 4 Need A.C....Goldstein D.B. (2009)
    4. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (2009)
    5. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (2008)
    6. Import of human bifunctional enzyme into peroxisomes of human hepatoma cells in vitro. (PubMed id 1651711)1, 2 Chen G.L....Chen W.W. (1991)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Two proteases, trypsin domain-containing 1 (Tysnd1) and peroxisomal lon protease (PsLon), cooperatively regulate fatty acid beta-oxidation in peroxisomal matrix. (PubMed id 22002062)1 Okumoto K.... Fujiki Y. (2011)
    9. Genome-wide association study of major depressive dis order: new results, meta-analysis, and lessons learned. (PubMed id 21042317)1 Wray N.R....Sullivan P.F. (2010)
    10. A proteome-wide perspective on peroxisome targeting s ignal 1(PTS1)-Pex5p affinities. (PubMed id 20178365)1 Ghosh D. and Berg J.M. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1962 HGNC: 3247 AceView: EHHADH Ensembl:ENSG00000113790 euGenes: HUgn1962
    ECgene: EHHADH Kegg: 1962 H-InvDB: EHHADH

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for EHHADH Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for EHHADH gene:
    Search GeneIP for patents involving EHHADH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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