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HADH Gene

protein-coding   GIFtS: 65
GCID: GC04P108910

Hydroxyacyl-CoA Dehydrogenase

(Previous names: L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain, hydroxyacyl-Coenzyme...)
(Previous symbol: HADHSC)
  See HADH-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)
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Aliases
Hydroxyacyl-CoA Dehydrogenase1 2     EC 1.1.1.353 8
HADHSC1 2 3 5     HHF42 5
SCHAD2 3 5     Hydroxyacyl-Coenzyme A Dehydrogenase1
L-3-Hydroxyacyl-Coenzyme A Dehydrogenase, Short Chain1 2     HADH12
Medium And Short-Chain L-3-Hydroxyacyl-Coenzyme A Dehydrogenase2 3     MSCHAD2
Short-Chain 3-Hydroxyacyl-CoA Dehydrogenase2 3     Hydroxyacyl-Coenzyme A Dehydrogenase, Mitochondrial2
HAD2 3     EC 1.1.18
HCDH2 3     

External Ids:    HGNC: 47991   Entrez Gene: 30332   Ensembl: ENSG000001387967   OMIM: 6016095   UniProtKB: Q168363   

Export aliases for HADH gene to outside databases

Previous GC identifers: GC07U990046 GC04P109130 GC04P104642


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HADH Gene:
This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the
mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation
pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one
form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on
chromosome 15. (provided by RefSeq, May 2010)

GeneCards Summary for HADH Gene:
HADH (hydroxyacyl-CoA dehydrogenase) is a protein-coding gene. Diseases associated with HADH include 3-hydroxyacyl-coa dehydrogenase deficiency, and hyperinsulinemic hypoglycemia, familial, 4. GO annotations related to this gene include NAD+ binding and 3-hydroxyacyl-CoA dehydrogenase activity. An important paralog of this gene is EHHADH.

UniProtKB/Swiss-Prot: HCDH_HUMAN, Q16836
Function: Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it
highest activity toward 3-hydroxybutyryl-CoA

Gene Wiki entry for HADH (Hydroxyacyl-Coenzyme A dehydrogenase) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HADH gene promoter:
         SREBP-1a   p300   c-Myb   SREBP-1b   YY1   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHADH promoter sequence
   Search Chromatin IP Primers for HADH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HADH


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

Entrez Gene cytogenetic band: 4q22-q26   Ensembl cytogenetic band:  4q25   HGNC cytogenetic band: 4q22-q26

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P108910:  view genomic region     (about GC identifiers)

Start:
108,910,870 bp from pter      End:
108,956,331 bp from pter
Size:
45,462 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HCDH_HUMAN, Q16836 (See protein sequence)
Recommended Name: Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial precursor  
Size: 314 amino acids; 34294 Da
Subunit: Homodimer
Selected PDB 3D structures from and Proteopedia for HADH (see all 12):
1F0Y (3D)        1F12 (3D)        1F14 (3D)        1F17 (3D)        1IL0 (3D)        1LSJ (3D)    
Secondary accessions: J3KQ17 O00324 O00397 O00753 Q4W5B4
Alternative splicing: 3 isoforms:  Q16836-1   Q16836-2   Q16836-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HADH: NX_Q16836

Explore proteomics data for HADH at MOPED

Post-translational modifications: 

  • Succinylation at Lys-81, adjacent to a coenzyme A binding site. Desuccinylated by SIRT5 (By similarity)1
  • Ubiquitination2 at Lys202
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for HADH (Q16836) (see all 7)
     ASNTSSL  HFFNPVP  PVMKLVEV  DLVVEAIVEN 


    See HADH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001171634.2  NP_005318.3  

    ENSEMBL proteins: 
     ENSP00000385638   ENSP00000312288   ENSP00000425254   ENSP00000425952   ENSP00000474560  
     ENSP00000395167  
    Reactome Protein details: Q16836

    HADH Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for HADH
    OriGene Protein Over-expression Lysate for HADH
    OriGene MassSpec for HADH
    OriGene Custom Protein Services for HADH
    GenScript Custom Purified and Recombinant Proteins Services for HADH
    Novus Biologicals HADH Proteins
    Novus Biologicals HADH Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for HADH
    Cloud-Clone Corp. Proteins for HADH

     
    Search eBioscience for Proteins for HADH 

    HADH Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for HADH
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    Novus Biologicals HADH Antibodies
    Abcam antibodies for HADH
    Cloud-Clone Corp. Antibodies for HADH
    ThermoFisher Antibody for HADH
    LSBio Antibodies in human, mouse, rat for HADH

    HADH Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HADH
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HADH
    Cloud-Clone Corp. CLIAs for HADH
    Search eBioscience for ELISAs for HADH 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR008927 6-PGluconate_DH_C-like
     IPR006108 3HC_DH_C
     IPR013328 DH_multihelical
     IPR006176 3-OHacyl-CoA_DH_NAD-bd
     IPR006180 3-OHacyl-CoA_DH_CS

    Graphical View of Domain Structure for InterPro Entry Q16836

    ProtoNet protein and cluster: Q16836

    2 Blocks protein domains:
    IPB006176 3-hydroxyacyl-CoA dehydrogenase
    IPB006180 3-hydroxyacyl-CoA dehydrogenase


    UniProtKB/Swiss-Prot: HCDH_HUMAN, Q16836
    Similarity: Belongs to the 3-hydroxyacyl-CoA dehydrogenase family


    Find genes that share domains with HADH           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HCDH_HUMAN, Q16836
    Function: Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it
    highest activity toward 3-hydroxybutyryl-CoA
    Catalytic activity: (S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH

         Enzyme Numbers (IUBMB): EC 1.1.1.351 2 EC 1.1.12

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038573-hydroxyacyl-CoA dehydrogenase activity TAS--
    GO:0016491oxidoreductase activity ----
    GO:0016616oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor ----
    GO:0050660flavin adenine dinucleotide binding ----
    GO:0051287NAD binding ----
         
    Find genes that share ontologies with HADH           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Hadh):
     adipose tissue  cellular  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 
     renal/urinary system 

    Find genes that share phenotypes with HADH           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Hadhtm1Csta for HADH

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HADH
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HADH

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target HADH:
    hsa-mir-26b-5p (MIRT029744), hsa-mir-192-5p (MIRT026706), hsa-mir-1 (MIRT023932), hsa-mir-215-5p (MIRT024384), hsa-mir-151a-3p (MIRT043605), hsa-mir-877-5p (MIRT037367), hsa-mir-124-3p (MIRT004893)

    Block miRNA regulation of human, mouse, rat HADH using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate HADH:
    hsa-miR-124 hsa-miR-593* hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidHADH 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HADH
    Predesigned siRNA for gene silencing in human, mouse, rat HADH

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HADH

    Clone
    Products:
         
    OriGene clones in human, mouse for HADH (see all 12)
    OriGene ORF clones in mouse, rat for HADH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): HADH (NM_001966)
    Sino Biological Human cDNA Clone for HADH
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HADH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HADH

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for HADH
    Browse ESI BIO Cell Lines and PureStem Progenitors for HADH 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HADH

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-12106) for HADH 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HCDH_HUMAN, Q16836: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus4
    peroxisome2
    endoplasmic reticulum1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane IEA--

    Find genes that share ontologies with HADH           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for HADH About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    2Tryptophan metabolism
    Tryptophan metabolism0.46
    Tryptophan metabolism0.46
    3Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    Beta oxidation of hexanoyl-CoA to butanoyl-CoA0.00
    mitochondrial fatty acid beta-oxidation of saturated fatty acids0.00
    Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA0.00
    Mitochondrial Fatty Acid Beta-Oxidation0.00
    Beta oxidation of butanoyl-CoA to acetyl-CoA0.00
    4Fatty acid metabolism
    Fatty acid metabolism0.42
    Fatty acid degradation0.42
    5Mitochondrial LC-Fatty Acid Beta-Oxidation
    Mitochondrial LC-Fatty Acid Beta-Oxidation0.35
    Fatty Acid Beta Oxidation0.35


    Find genes that share SuperPaths with HADH           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected BioSystems Pathways for HADH (see all 6)
        Fatty Acid Beta Oxidation
    FOXA2 and FOXA3 transcription factor networks
    fatty acid beta-oxidation I
    Mitochondrial LC-Fatty Acid Beta-Oxidation
    Tryptophan metabolism


    5 Reactome Pathways for HADH
        Beta oxidation of hexanoyl-CoA to butanoyl-CoA
    Beta oxidation of octanoyl-CoA to hexanoyl-CoA
    Beta oxidation of butanoyl-CoA to acetyl-CoA
    Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA
    Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA


    Selected Kegg Pathways  (Kegg details for HADH) (see all 8):
        Fatty acid elongation
    Fatty acid degradation
    Valine, leucine and isoleucine degradation
    Lysine degradation
    Tryptophan metabolism

    UniProtKB/Swiss-Prot: HCDH_HUMAN, Q16836
    Pathway: Lipid metabolism; fatty acid beta-oxidation

        Pathway & Disease-focused RT2 Profiler PCR Array including HADH: 

              Amino Acid Metabolism II in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HADH

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

    Selected Interacting proteins for HADH (Q168363 ENSP000003122884) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBA5Q9GZZ93, ENSP000003485654I2D: score=3 STRING: ENSP00000348565
    SLC2A4P146723, ENSP000003209354I2D: score=2 STRING: ENSP00000320935
    GBASO753233, ENSP000003130504I2D: score=1 STRING: ENSP00000313050
    DDA1Q9BW613, ENSP000003529284I2D: score=1 STRING: ENSP00000352928
    PRKAG2Q9UGJ03I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006631fatty acid metabolic process ----
    GO:0006635fatty acid beta-oxidation TAS--
    GO:0009725response to hormone ----
    GO:0014823response to activity IEA--
    GO:0032868response to insulin IEA--

    Find genes that share ontologies with HADH           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HADH (HCDH)

    Selected HMDB Compounds for HADH (see all 26)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (3S)-3-Hydroxyadipyl-CoA(3S)-3-Hydroxyadipyl-CoEnzyme A ----
    (S)-3-Hydroxydodecanoyl-CoA(S)-3-hydroxydodecanoyl-coenzyme A 72059-49-5--
    (S)-3-Hydroxyhexadecanoyl-CoA(S)-3-hydroxyhexadecanoyl-coenzyme A (see all 14)35106-50-4--
    (S)-3-Hydroxytetradecanoyl-CoA(S)-3-Hydroxytetradecanoyl-Coenzyme A. (see all 2)----
    (S)-3-hydroxypalmitoleoyl-CoA(S)-3-hydroxyhexadeca-9Z-enoyl-CoA (see all 4)----
    (S)-Hydroxydecanoyl-CoAS-(3-hydroxydecanoate) Coenzyme A (see all 16)6245-70-1--
    (S)-Hydroxyhexanoyl-CoA[R,S]-Lactyl CoA (see all 8)74875-70-0--
    (S)-Hydroxyoctanoyl-CoA(S)-3-Hydroxyoctanoyl-CoA (see all 2)79171-48-5--
    (S)-Methylmalonic acid semialdehyde(S)-Methylmalonate semialdehyde (see all 3)99043-16-0--
    16,18-Oxo-18-CoA-dinor-LTE4CoA-18-COOH-16-oxo-dinor-LTE(,4) (see all 2)----

    4 DrugBank Compounds for HADH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--17139284 17016423 10592235
    3-Hydroxybutyryl-Coenzyme A-- --target--17139284 17016423
    Acetoacetyl-Coenzyme A-- 1420-36-6target--17139284 17016423
    NADHbeta-DPNH (see all 18)606-68-8target--17202348

    10 Novoseek inferred chemical compound relationships for HADH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fatty acid 60.9 10 9716664 (1), 14641012 (1), 17065362 (1), 17491019 (1) (see all 7)
    acyl-coa 58 2 15347768 (1), 17442290 (1)
    katp 55.3 2 17185391 (1)
    diazoxide 51.1 1 17185391 (1)
    nad+ 44.6 4 10231530 (3), 10548046 (1)
    glutamate 36.8 4 18156285 (1), 14981344 (1), 15640549 (1), 19411227 (1)
    carnitine 35.7 1 17442290 (1)
    nadh 26.1 2 10231530 (2)
    glucose 24.3 3 17491019 (2)
    leucine 18.5 1 11489939 (1)



    Find genes that share compounds with HADH           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HADH gene (2 alternative transcripts): 
    NM_001184705.2  NM_005327.4  

    Unigene Cluster for HADH:

    Hydroxyacyl-CoA dehydrogenase
    Hs.438289  [show with all ESTs]
    Unigene Representative Sequence: NM_001184705
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000403312(uc010ilx.3 uc003hyq.3) ENST00000309522 ENST00000511742
    ENST00000505878 ENST00000507260 ENST00000510728 ENST00000515462 ENST00000514776
    ENST00000603302 ENST00000454409(uc003hyr.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat HADH using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate HADH:
    hsa-miR-124 hsa-miR-593* hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidHADH 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HADH
    Predesigned siRNA for gene silencing in human, mouse, rat HADH
    Clone
    Products:
         
    OriGene clones in human, mouse for HADH (see all 12)
    OriGene ORF clones in mouse, rat for HADH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): HADH (NM_001966)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HADH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HADH
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for HADH
    OriGene qSTAR qPCR primer pairs in human, mouse for HADH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HADH
      QuantiTect SYBR Green Assays in human, mouse, rat HADH
      QuantiFast Probe-based Assays in human, mouse, rat HADH
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-12106) for HADH 

    Additional mRNA sequence: 

    AF001902.1 AF001903.1 AK096018.1 AK314444.1 BC000306.2 X96752.1 

    12 DOTS entries:

    DT.454550  DT.97770815  DT.95127733  DT.217941  DT.100817974  DT.95127731  DT.100817977  DT.121276237 
    DT.121276268  DT.100817983  DT.121276253  DT.97803912 

    Selected AceView cDNA sequences (see all 340):

    BM783903 BM770185 BQ267850 CA435629 BM783994 BM510048 AA738035 AI355081 
    BQ182966 CR591982 BM676252 AA359010 AI123379 AA939317 BI711330 AL572990 
    BM512492 AI625958 W77974 AW874642 BG740540 BX281709 BM756258 BF340259 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HADH (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b
    SP1:                          -     -     -                                               -                           
    SP2:                                      -                                               -     -                     
    SP3:                          -     -     -                                               -     -                     
    SP4:                          -           -                                                                           
    SP5:                                                                                                                  


    ECgene alternative splicing isoforms for HADH

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HADH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAAATCACT
    HADH Expression
    About this image


    HADH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             nGnG Amacrine Cells Inner Nuclear Layer
             Lens
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Kidney (Urinary System)
             Metanephros
    HADH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HADH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.438289

    UniProtKB/Swiss-Prot: HCDH_HUMAN, Q16836
    Tissue specificity: Expressed in liver, kidney, pancreas, heart and skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Array including HADH: 
              Amino Acid Metabolism II 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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HADH gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hadh1 , 5 hydroxyacyl-Coenzyme A dehydrogenase1, 5 84.93(n)1
    90.13(a)1
      3 (60.86 cM)5
    151071  NM_008212.41  NP_032238.21 
     1312334195 
    chicken
    (Gallus gallus)
    Aves HADH1 hydroxyacyl-CoA dehydrogenase 75.93(n)
    78.27(a)
      420290  NM_001277897.1  NP_001264826.1 
    lizard
    (Anolis carolinensis)
    Reptilia HADH6
    hydroxyacyl-CoA dehydrogenase
    80(a)
    1 ↔ 1
    GL343384.1(296036-314140)
    African clawed frog
    (Xenopus laevis)
    Amphibia hadhsc-prov2 L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain 77.67(n)    BC056108.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb66a112 wufb66a11 73.81(n)   322574  CK024612.1 
    worm
    (Caenorhabditis elegans)
    Secernentea B0272.31 B0272.3 56.6(n)
    56.25(a)
      181169  NM_077183.5  NP_509584.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G152901 AT3G15290 48.04(n)
    41.64(a)
      820760  NM_112392.3  NP_188147.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g07964001 Os01g0796400 49.64(n)
    45.62(a)
      4325632  NM_001051050.1  NP_001044515.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HADH gene
    EHHADH2  HADHA2  

    Find genes that share paralogs with HADH           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for HADH
    PGOHUM00000246794


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HADH (see all 1001)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0240804
    3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency)4--see VAR_0240802 D E mis40--------
    VAR_0240794
    3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency)4--see VAR_0240792 A T mis40--------
    VAR_0240814
    Familial hyperinsulinemic hypoglycemia 4 (HHF4)4--see VAR_0240812 P L mis40--------
    rs38367221,2
    C,F--104641109(+) TTGTTG/-TCCCC 2 -- us2k12Minor allele frequency- -:0.50NA CSA 4
    rs112807581,2
    C--104648118(+) AAGAT-/AATCTC
            
    AGTGT
    2 -- cds10--------
    rs1999423461,2
    C--104662543(+) TCTTTC/TTTTTT 2 -- int10--------
    rs1160457551,2
    C,F--108703979(+) GTAGAG/AGTTCC 2 -- us2k11Minor allele frequency- A:0.01NA 120
    rs68349241,2
    C--108704100(+) aagaaA/Gtcaat 2 -- us2k10--------
    rs1842000621,2
    --108704159(+) GCATGC/TTTATA 2 -- us2k10--------
    rs1460706501,2
    --108704213(+) ATTTAC/GAGGTG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for HADH (108910870 - 108956331 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for HADH:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1658e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): HADH
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HADH
    DNA2.0 Custom Variant and Variant Library Synthesis for HADH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601609   
    OMIM disorders: 231530  609975  
    UniProtKB/Swiss-Prot: HCDH_HUMAN, Q16836
  • 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]: A metabolic disorder
    with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and
    in some cases sudden death. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Familial hyperinsulinemic hypoglycemia 4 (HHF4) [MIM:609975]: Most common cause of persistent
    hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent
    episodes of hypoglycemia may occur. HHF4 should be easily recognizable by analysis of acylcarnitine species and
    that this disorder responds well to treatment with diazoxide. It provides the first 'experiment of nature' that
    links impaired fatty acid oxidation to hyperinsulinism and that provides support for the concept that a lipid
    signaling pathway is implicated in the control of insulin secretion. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 8 diseases for HADH:    
    About MalaCards
    3-hydroxyacyl-coa dehydrogenase deficiency    hyperinsulinemic hypoglycemia, familial, 4    hadh-related hyperinsulinism    3-hydroxyacyl-coenzyme a dehydrogenase deficiency
    hyperinsulinemic hypoglycemia    familial hyperinsulinism    hypoglycemia    hyperinsulinism

    3 diseases from the University of Copenhagen DISEASES database for HADH:
    Hyperinsulinism     Hyperinsulinemic hypoglycemia     Hypoglycemia

    Find genes that share disorders with HADH           About GenesLikeMe

    3 Novoseek inferred disease relationships for HADH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperinsulinism 87 8 14641012 (1), 18156285 (1), 17065362 (1), 17185391 (1) (see all 7)
    hypoglycemia 65.9 3 17491019 (2), 14693719 (1)
    enzyme deficiency 55.2 1 8795843 (1)

    GeneTests: HADH
    GeneReviews: HADH
    Genetic Association Database (GAD): HADH
    Human Genome Epidemiology (HuGE) Navigator: HADH (3 documents)

    Export disorders for HADH 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)
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    PubMed articles for HADH gene, integrated from 10 sources (see all 70):
    (articles sorted by number of sources associating them with HADH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 3-hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease. (PubMed id 16176262)1, 2, 3, 9 Yang S.-Y.... Schulz H. (FEBS J. 2005)
    2. Biochemical characterization and crystal structure determination of human heart short chain L-3-hydroxyacyl-CoA dehydrogenase provide insights into catalytic mechanism. (PubMed id 10231530)1, 2, 9 Barycki J.J.... Banaszak L.J. (Biochemistry 1999)
    3. Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence. (PubMed id 8687463)1, 2, 9 Vredendaal P.J.C.M.... Berger R. (Biochem. Biophys. Res. Commun. 1996)
    4. Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. (PubMed id 11489939)1, 2, 9 Clayton P.T....van den Berg I.E.T. (J. Clin. Invest. 2001)
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    6. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PubMed id 20332099)1, 4 Kalsi G....Riley B.P. (Hum. Mol. Genet. 2010)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Sequestration of the active site by interdomain shifting. Crystallographic and spectroscopic evidence for distinct conformations of L-3-hydroxyacyl-CoA dehydrogenase. (PubMed id 10840044)1, 2 Barycki J.J.... Banaszak L.J. (J. Biol. Chem. 2000)
    9. A preliminary analysis of the segregation of human hydroxyacyl coenzyme A dehydrogenase in human-mouse somatic cell hybrids. (PubMed id 975867)1, 3 Craig I....Bobrow M. (Cytogenet. Cell Genet. 1976)
    10. The HADHSC gene encoding short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) and type 2 diabetes susceptibility: the DAMAGE study. (PubMed id 17065362)1, 9 van Hove E.C....'t Hart L.M. (Diabetes 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 3033 HGNC: 4799 AceView: HADHSC Ensembl:ENSG00000138796 euGenes: HUgn3033
    ECgene: HADH Kegg: 3033 H-InvDB: HADH

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HADH Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HADH[genesymbol]

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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