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

HADHA Gene

protein-coding   GIFtS: 67
GCID: GC02M026413

Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA...

(Previous names: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme...)
  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
Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA
Hydratase (Trifunctional Protein), Alpha Subunit1 2
     ECHA2
Hydroxyacyl-Coenzyme A Dehydrogenase/3-Ketoacyl-Coenzyme A
Thiolase/Enoyl-Coenzyme A Hydratase (Trifunctional Protein), Alpha
Subunit1 2
     GBP2
Gastrin-Binding Protein1 2     LCEH2
Long-Chain 2-Enoyl-CoA Hydratase1 2     LCHAD2
Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase1 2     TP-ALPHA2
78 KDa Gastrin-Binding Protein2 3     Mitochondrial Long-Chain 2-Enoyl-Coenzyme A (CoA) Hydratase, Alpha Subunit2
HADH2 3     Mitochondrial Long-Chain L-3-Hydroxyacyl-Coenzyme A (CoA) Dehydrogenase,
Alpha Subunit2
MTPA2 5     Mitochondrial Trifunctional Enzyme, Alpha Subunit2
Alpha Subunit1     Mitochondrial Trifunctional Protein, Alpha Subunit2
Mitochondrial Trifunctional Protein1     Trifunctional Enzyme Subunit Alpha, Mitochondrial2
3-Ketoacyl-Coenzyme A (CoA) Thiolase, Alpha Subunit2     TP-alpha3
3-Oxoacyl-CoA Thiolase2     

External Ids:    HGNC: 48011   Entrez Gene: 30302   Ensembl: ENSG000000847547   OMIM: 6008905   UniProtKB: P409393   

Export aliases for HADHA gene to outside databases

Previous GC identifers: GC02M026334 GC02M026506 GC02M026388 GC02M026325 GC02M026267 GC02M026150


(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 HADHA Gene:
This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three
steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex
is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA
dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein
deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional
protein are located adjacent to each other in the human genome in a head-to-head orientation. (provided by
RefSeq, Jul 2008)

GeneCards Summary for HADHA Gene: 
HADHA (hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit) is a protein-coding gene. Diseases associated with HADHA include lchad deficiency, and acute fatty liver of pregnancy, and among its related super-pathways are Valine, leucine and isoleucine degradation and Metabolic pathways. GO annotations related to this gene include protein complex binding and fatty-acyl-CoA binding. An important paralog of this gene is EHHADH.

UniProtKB/Swiss-Prot: ECHA_HUMAN, P40939
Function: Bifunctional subunit




(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_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HADHA gene promoter:
         GR   AML1a   STAT5A   GATA-2   Egr-4   HNF-1A   POU2F1   POU2F1a   HNF-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHADHA promoter sequence
   Search SABiosciences Chromatin IP Primers for HADHA

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


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

Entrez Gene cytogenetic band: 2p23   Ensembl cytogenetic band:  2p23.3   HGNC cytogenetic band: 2p23

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M026413:  view genomic region     (about GC identifiers)

Start:
26,413,504 bp from pter      End:
26,467,594 bp from pter
Size:
54,091 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: ECHA_HUMAN, P40939 (See protein sequence)
Recommended Name: Trifunctional enzyme subunit alpha, mitochondrial precursor  
Size: 763 amino acids; 83000 Da
Subunit: Octamer of 4 alpha (HADHA) and 4 beta (HADHB) subunits
Subcellular location: Mitochondrion
Secondary accessions: B2R7L4 Q16679 Q53T69 Q53TA2 Q96GT7

Explore the universe of human proteins at neXtProt for HADHA: NX_P40939

Explore proteomics data for HADHA at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P40939

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

    HADHA Protein Expression
    REFSEQ proteins: NP_000173.2  
    ENSEMBL proteins: 
     ENSP00000370023   ENSP00000438039   ENSP00000405344  
    Reactome Protein details: P40939
    Human Recombinant Protein Products for HADHA: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for HADHA
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for HADHA
    GenScript Custom Purified and Recombinant Proteins Services for HADHA
    Novus Biologicals HADHA Protein
    Novus Biologicals HADHA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane TAS--
    GO:0016507mitochondrial fatty acid beta-oxidation multienzyme complex IEA--

    HADHA for ontologies           About GeneDecksing



    HADHA Antibody Products: 
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    Novus Biologicals HADHA Antibodies
    Abcam antibodies for HADHA
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibody for HADHA
    LSBio Antibodies in human, mouse, rat for HADHA 

    Assay Products for HADHA: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HADHA
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    GenScript Custom Assay Services for HADHA
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/9 InterPro protein domains (see all 9):
     IPR008927 6-PGluconate_DH_C-like
     IPR006108 3HC_DH_C
     IPR012803 Fa_ox_alpha_mit
     IPR018376 Enoyl-CoA_hyd/isom_CS
     IPR013328 DH_multihelical

    Graphical View of Domain Structure for InterPro Entry P40939

    ProtoNet protein and cluster: P40939

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


    UniProtKB/Swiss-Prot: ECHA_HUMAN, P40939
    Similarity: In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family
    Similarity: In the central section; belongs to the 3-hydroxyacyl-CoA dehydrogenase family


    HADHA 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: ECHA_HUMAN, P40939
    Function: Bifunctional subunit
    Catalytic activity: (3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl-CoA + H(2)O
    Catalytic activity: A long-chain (S)-3-hydroxyacyl-CoA + NAD(+) = a long-chain 3-oxoacyl-CoA + NADH

         Genatlas biochemistry entry for HADHA:
    mitochondrial,membrane bound,fatty acid beta-oxidation trifunctional enzyme,alpha subunit harboring the long chain
    2-enoyl-CoA hydratase and the long chain 3-hydroxyacyl-CoA dehydrogenase domains,linked to HADHB in head to head
    arrangement on opposite strand with a common 350bp flanking region

         Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000062fatty-acyl-CoA binding IEA--
    GO:0003824catalytic activity ----
    GO:00038573-hydroxyacyl-CoA dehydrogenase activity IEA--
    GO:0003985acetyl-CoA C-acetyltransferase activity TAS8135828
    GO:0003988acetyl-CoA C-acyltransferase activity ----
         
    HADHA for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HADHA:
     Decreased POU5F1-GFP protein e 

         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hadha):
     cardiovascular system  embryogenesis  growth/size  homeostasis/metabolism  liver/biliary system 
     mortality/aging  muscle  renal/urinary system 

    HADHA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hadhatm1Jib for HADHA

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HADHA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HADHA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HADHA 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HADHA 

    miRNA
    Products:
        
    miRTarBase miRNAs that target HADHA:
    hsa-mir-124 (MIRT004893)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HADHA
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate HADHA:
    hsa-miR-3158-3p hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidHADHA 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HADHA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HADHA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HADHA
    Sirion Biotech Customized adenovirus for overexpression of HADHA

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for HADHA (see all 7)
    OriGene ORF clones in mouse, rat for HADHA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HADHA (NM_000182)
    Sino Biological Human cDNA Clone for HADHA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HADHA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HADHA
    Sirion Biotech Customized lentivirus for stable overexpression of HADHA 
                         Customized lentivirus expression plasmids for stable overexpression of HADHA 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for HADHA
    Search LifeMap BioReagents cell lines for HADHA
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HADHA


    (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 HADHA About   (see all 14)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Branched-chain amino acid catabolism
    valine degradation I0.53
    Valine, leucine and isoleucine degradation0.39
    isoleucine degradation I0.53
    Propanoate metabolism0.31
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3Fatty Acid Beta Oxidation
    Fatty Acid Beta Oxidation0.35
    Fatty acid degradation0.32
    Mitochondrial LC-Fatty Acid Beta-Oxidation0.35
    4Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
    Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA0.67
    Beta oxidation of myristoyl-CoA to lauroyl-CoA0.60
    Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA0.67
    Mitochondrial Fatty Acid Beta-Oxidation0.53
    Beta oxidation of octanoyl-CoA to hexanoyl-CoA0.67
    mitochondrial fatty acid beta-oxidation of unsaturated fatty acids0.50
    Beta oxidation of hexanoyl-CoA to butanoyl-CoA0.67
    Beta oxidation of palmitoyl-CoA to myristoyl-CoA0.50
    5Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Phospholipid metabolism0.64

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/6 BioSystems Pathways for HADHA (see all 6)
        SIDS Susceptibility Pathways
    isoleucine degradation I
    Fatty Acid Beta Oxidation
    valine degradation I
    fatty acid beta-oxidation I


    5/15        Reactome Pathways for HADHA (see all 15)
        mitochondrial fatty acid beta-oxidation of saturated fatty acids
    Metabolism
    Beta oxidation of hexanoyl-CoA to butanoyl-CoA
    Phospholipid metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism


    5/10         Kegg Pathways  (Kegg details for HADHA) (see all 10):
        Fatty acid elongation
    Fatty acid degradation
    Valine, leucine and isoleucine degradation
    Lysine degradation
    Tryptophan metabolism

    UniProtKB/Swiss-Prot: ECHA_HUMAN, P40939
    Pathway: Lipid metabolism; fatty acid beta-oxidation


    HADHA for pathways           About GeneDecksing

    Interactions:

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

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

    5/422 Interacting proteins for HADHA (P409391, 2, 3 ENSP000003700234) via UniProtKB, MINT, STRING, and/or I2D (see all 422)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAQP273482, 3, ENSP000002380814MINT-8395092 I2D: score=1 STRING: ENSP00000238081
    GABARAPL1Q9H0R81, 3EBI-356720,EBI-746969 I2D: score=3 
    GABARAPL2P605201, 3EBI-356720,EBI-720116 I2D: score=3 
    MAP1LC3BQ9GZQ81, 3EBI-356720,EBI-373144 I2D: score=3 
    TRAF6Q9Y4K32, 3MINT-49591 I2D: score=3 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006631fatty acid metabolic process ----
    GO:0006635fatty acid beta-oxidation TAS--
    GO:0006644phospholipid metabolic process TAS--
    GO:0008152metabolic process ----
    GO:0032868response to insulin stimulus IEA--

    HADHA 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

    HADHA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HADHA (ECHA)

    10/71 HMDB Compounds for HADHA (see all 71)    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)----
    (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 ----
    (3S)-3-Hydroxydodec-cis-6-enoyl-CoA(3S)-3-hydroxy-6Z-dodecenoyl-CoA (see all 7)----

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

    10/44 Novoseek inferred chemical compound relationships for HADHA gene (see all 44)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    i-bop 82.3 3 11055976 (3)
    3-ketopalmitoyl-coa 82.2 1 7936829 (1)
    17-phenyl-trinor-pge2 78.7 5 11015313 (3), 15100160 (1)
    thromboxane a2 78.5 27 17630727 (2), 11901221 (2), 10506165 (2), 10827090 (1) (see all 18)
    gastrin 17 77.6 3 7851540 (2)
    benzotript 77.1 1 7851540 (1)
    fatty acid 75.7 50 15858960 (3), 10682306 (2), 7811722 (1), 12487544 (1) (see all 34)
    3-oxoacyl-coa 73.6 5 1401059 (2), 1445348 (1), 1438378 (1)
    acyl-coa 73.1 28 7822275 (1), 12487544 (1), 16617370 (1), 9762600 (1) (see all 14)
    3-hydroxydecanoic acid 72.2 3 20399795 (1), 20381565 (1)

    Search CenterWatch for drugs/clinical trials and news about HADHA / ECHA

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HADHA gene: 
    NM_000182.4  

    Unigene Cluster for HADHA:

    Hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
    Hs.516032  [show with all ESTs]
    Unigene Representative Sequence: NM_000182
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380649(uc002rgy.3 uc010yks.2) ENST00000492433 ENST00000471743
    ENST00000461025 ENST00000457468(uc010ykt.1)
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HADHA
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate HADHA:
    hsa-miR-3158-3p hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidHADHA 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HADHA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HADHA
    Clone
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    OriGene clones in human, mouse for HADHA (see all 7)
    OriGene ORF clones in mouse, rat for HADHA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HADHA (NM_000182)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HADHA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HADHA
    Sirion Biotech Customized lentivirus for stable overexpression of HADHA 
                         Customized lentivirus expression plasmids for stable overexpression of HADHA 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for HADHA
    OriGene qSTAR qPCR primer pairs in human, mouse for HADHA
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HADHA
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HADHA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HADHA

    Additional mRNA sequence: 

    AK124989.1 AK293398.1 AK299258.1 AK302532.1 AK313027.1 BC009235.2 D16480.1 FJ626228.1 
    GU727642.1 U04627.1 

    24/46 DOTS entries (see all 46):

    DT.100736320  DT.120986734  DT.100736337  DT.451939  DT.91881656  DT.100736359  DT.100736304  DT.120986853 
    DT.100704840  DT.120987067  DT.91714501  DT.120986828  DT.99926546  DT.100736334  DT.121176814  DT.120986780 
    DT.408288  DT.100746276  DT.100802728  DT.91684649  DT.120986758  DT.91921667  DT.91782316  DT.102839310 

    24/1063 AceView cDNA sequences (see all 1063):

    CF552319 BM128685 AA386372 CF141781 BQ422169 BM810524 AL542977 BG756727 
    BE313427 BG283717 BM558024 BG761626 BI825497 BQ431778 BQ673828 CR626125 
    BC009235 BF432396 AA386364 BM817803 BM563576 F07114 AA062818 BQ063126 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for HADHA    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b
    SP1:                          -                                                                                                                     
    SP2:                                                                                                                                                
    SP3:                                                                                                                                                


    ECgene alternative splicing isoforms for HADHA

    (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

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


    HADHA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/41 selected tissues (see all 41) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Cerebral Cortex
             ganglion/cranial   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             Stem Bronchi
             bronchus ; respiratory epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart muscle ; myocytes   
             heart/atrium   

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

    SOURCE GeneReport for Unigene cluster: Hs.516032
        SABiosciences Expression via Pathway-Focused PCR Arrays including HADHA: 
              Fatty Acid Metabolism in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HADHA

    (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 HADHA gene from 9/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hadha1 , 5 hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme more1, 5 85.54(n)1
    86.5(a)1
      5 (15.95 cM)5
    972121  NM_178878.21  NP_849209.11 
     301183015 
    chicken
    (Gallus gallus)
    Aves HADHA1 hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA more 74.81(n)
    79.35(a)
      395929  NM_205056.1  NP_990387.1 
    lizard
    (Anolis carolinensis)
    Reptilia HADHA6
    Uncharacterized protein
    78(a)
    1 ↔ 1
    GL344254.1(32809-67294)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.255522 Xenopus laevis transcribed sequence with moderate similarity more 74.94(n)    BX845168.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CA473355.12   -- 77.48(n)    CA473355.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:GH125583
    CG43891
    long-chain enoyl-CoA hydratase3
    CG43891
    56(a)3
    58.46(n)1
    57.28(a)1
      30B123
    342761  NM_135455.21  NP_609299.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T08B2.7a3
    T08B2.71
    3-hydroxyacyl-CoA dehydrogenase3
    Protein T08B2.71
    53(a)
    (best of 5)3
    56.83(n)1
    54.1(a)1
      I(6215273-6219172)3
    1723101  NM_059388.51  NP_491789.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AIM11 enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase 46.13(n)
    35.01(a)
      829022  NM_119045.4  NP_194630.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g02741001 hypothetical protein 45.02(n)
    34.78(a)
      4328997  NM_001053071.1  NP_001046536.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HADHA gene
    EHHADH2  HADH2  
    1 SIMAP similar gene for HADHA using alignment to 4 protein entries:     ECHA_HUMAN (see all proteins):
    EHHADH

    HADHA for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for HADHA
    PGOHUM00000239651 PGOHUM00000245761


    (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

    10/1139 SNPs in HADHA are shown (see all 1139)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0211274
    Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency)4--see VAR_0211272 L P mis40--------
    VAR_0211264
    Trifunctional protein deficiency (TFP deficiency)4--see VAR_0211262 I N mis40--------
    VAR_0211254
    Trifunctional protein deficiency (TFP deficiency)4--see VAR_0211252 V D mis40--------
    rs1378527691,2,4
    C,FMaternal acute fatty liver of pregnancy (AFLP)4 pathogenic126337369(-) TGCTGG/CAGATT 2 /Q /E mis12Minor allele frequency- C:0.00NA EU 5875
    VAR_0489084
    ----see VAR_0489082 Q K mis40--------
    rs114020591,2
    C--26157313(+) AAAAAA/-GGAAA 1 -- int1 trp32Minor allele frequency- -:0.25NA CSA 4
    rs713993731,2
    C--26186162(+) GTCTC-/AAAAAA 1 -- int12Minor allele frequency- A:0.25NA CSA 4
    rs799867301,2
    C--26186162(+) GTCTCA/CAAAAA 1 -- int10--------
    rs58300041,2
    C--26187998(+) GCGCG-/CACA  
     
    /CACACA
    cacac
    2 -- int1 cds10--------
    rs1415555321,2
    C--26195009(+) GTGTG-/TATATAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for HADHA (26413504 - 26467594 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for HADHA:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv2648CNV Loss18451855
    esv33316CNV Loss17666407
    nsv873748CNV Loss21882294
    nsv524918CNV Gain19592680
    nsv873747CNV Gain21882294


    Human Gene Mutation Database (HGMD): HADHA
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HADHA
    DNA2.0 Custom Variant and Variant Library Synthesis for HADHA

    (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: 600890   
    OMIM disorders: 609016  609015  
    UniProtKB/Swiss-Prot: ECHA_HUMAN, P40939
  • Trifunctional protein deficiency (TFP deficiency) [MIM:609015]: The clinical manifestations are very
    variable and include hypoglycemia, cardiomyopathy and sudden death. Phenotypes with mainly hepatic and
    neuromyopathic involvement can also be distinguished. Biochemically, TFP deficiency is defined by the loss of all
    three enzyme activities of the TFP complex. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016]: The clinical features
    are very similar to TFP deficiency. Biochemically, LCHAD deficiency is characterized by reduced long-chain
    3-hydroxyl-CoA dehydrogenase activity, while the other enzyme activities of the TFP complex are normal or only
    slightly reduced. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Maternal acute fatty liver of pregnancy (AFLP) [MIM:609016]: Severe maternal illness occurring during
    pregnancies with affected fetuses. This disease is associated with LCHAD deficiency and characterized by sudden
    unexplained infant death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome). Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 20/51 diseases for HADHA (see all 51):    About MalaCards
    lchad deficiency    acute fatty liver of pregnancy    mitochondrial trifunctional protein deficiency    hellp syndrome
    hellp syndrome, maternal, of pregnancy    3-hydroxyacyl-coa dehydrogenase deficiency    3-hydroxyacyl-coenzyme a dehydrogenase deficiency    protein s deficiency
    fatty acid oxidation disorders    bannayan-riley-ruvalcaba syndrome    ruvalcaba syndrome    thiolase deficiency
    abetalipoproteinemia    maple syrup urine disease    reye syndrome    developmental disabilities
    phenylketonuria    homocystinuria    sudden infant death syndrome    hypoparathyroidism

    1 disease from the University of Copenhagen DISEASES database for HADHA:
    Hypoglycemia

    HADHA for disorders           About GeneDecksing

    10/36 Novoseek inferred disease relationships for HADHA gene (see all 36)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    reye-like syndrome 86.8 5 7846063 (1), 10518281 (1), 8809345 (1)
    protein deficiency 83.9 9 12487544 (1), 16040264 (1), 17143551 (1), 16297647 (1) (see all 7)
    abetalipoproteinemia 82.9 16 20381565 (3), 16423905 (2), 15896654 (2), 19880769 (1) (see all 9)
    hellp syndrome 74.7 16 10926288 (5), 17313315 (1), 15858960 (1), 8827903 (1) (see all 9)
    fatty liver 72.8 16 7846063 (2), 18408953 (2), 8777838 (1), 10352164 (1) (see all 11)
    mcad deficiency 72.3 3 12487544 (1), 19255872 (1)
    cardiomyopathy 67.4 9 17143551 (1), 12971423 (1), 10518281 (1), 16163656 (1) (see all 7)
    hypoglycemia 66.7 11 7846063 (1), 17143551 (1), 10638050 (1), 10352164 (1) (see all 9)
    metabolic disorder 57.8 6 12487544 (1), 10229030 (1), 18162058 (1), 10789927 (1)
    pregnancy complications 55.7 6 20363656 (2), 10229030 (1), 15858960 (1), 11295727 (1) (see all 5)

    Genetic Association Database (GAD): HADHA
    Human Genome Epidemiology (HuGE) Navigator: HADHA (13 documents)

    Export disorders for HADHA 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 HADHA gene, integrated from 9 sources (see all 263):
    (articles sorted by number of sources associating them with HADHA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structures of the human cDNA and gene encoding the 78 kDa gastrin- binding protein and of a related pseudogene. (PubMed id 7918661)1, 2, 3, 9 Zhang Q.X. and Baldwin G.S. (1994)
    2. Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. (PubMed id 8770876)1, 2, 9 Ijlst L.... Wanders R.J.A. (1996)
    3. The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. (PubMed id 7846063)1, 2, 9 Sims H.F.... Strauss A.W. (1995)
    4. Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein. (PubMed id 7811722)1, 2, 9 Ijlst L.... Hashimoto T. (1994)
    5. Neither maternal nor fetal mutation (E474Q) in the alpha-subunit of the trifunctional protein is frequent in pregnancies complicated by HELLP syndrome. (PubMed id 17313315)1, 4, 9 Mutze S....Zerres K. (2007)
    6. Fluorescence in situ hybridization mapping of the alpha and beta subunits (HADHA and HADHB) of human mitochondrial fatty acid beta-oxidation multienzyme complex to 2p23 and their evolution. (PubMed id 9605857)1, 3, 9 Aoyama T....Fukushima Y. (1997)
    7. Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients. (PubMed id 8163672)1, 2, 9 Kamijo T....Hashimoto T. (1994)
    8. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (2010)
    9. Use of genome-wide expression data to mine the ' Gray Zone' of GWA studies leads to novel candidate obesity genes. (PubMed id 20532202)1, 4 Naukkarinen J....Peltonen L. (2010)
    10. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (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: 3030 HGNC: 4801 AceView: HADHA Ensembl:ENSG00000084754 euGenes: HUgn3030
    ECgene: HADHA Kegg: 3030 H-InvDB: HADHA

    (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 HADHA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HADHA

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

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



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    About This Section

     
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