Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

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

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 3-hydroxyacyl-coenzyme a dehydrogenase deficiency, and among its related super-pathways are Metabolic pathways and Fatty Acid Beta Oxidation. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for HADH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: HCDH_HUMAN, Q16836 (See protein sequence)
Recommended Name: Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial precursor  
Size: 314 amino acids; 34294 Da
Subunit: Homodimer
Subcellular location: Mitochondrion matrix
6/12 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q16836

  • 4/7 DME Specific Peptides for HADH (Q16836) (see all 7)
     ASNTSSL  HFFNPVP  PVMKLVEV  DLVVEAIVEN 

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

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

    ENSEMBL proteins: 
     ENSP00000385638   ENSP00000312288   ENSP00000425254   ENSP00000425952   ENSP00000474560  
     ENSP00000395167  
    Reactome Protein details: Q16836
    Human Recombinant Protein Products for HADH: 
    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
    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 

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

    HADH for ontologies           About GeneDecksing



    HADH Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for HADH
    OriGene Custom Antibody Services for HADH
    GenScript Custom Superior Antibodies Services for HADH
    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 

    Assay Products for HADH: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HADH
    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


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 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


    HADH 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: 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): 5/6 molecular function terms (GO ID links to tree view) (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 ----
         
    HADH for ontologies           About GeneDecksing


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

    HADH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hadhtm1Csta for HADH

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HADH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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-124 (MIRT004893)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HADH
    3 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HADH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HADH

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

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HADH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HADH
    Sirion Biotech Customized lentivirus for stable overexpression of HADH 
                         Customized lentivirus expression plasmids for stable overexpression of HADH 

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HADH


    (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 HADH About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    2Fatty Acid Beta Oxidation
    Fatty Acid Beta Oxidation0.35
    Fatty acid degradation0.32
    Mitochondrial LC-Fatty Acid Beta-Oxidation0.35
    3Tryptophan metabolism
    Tryptophan metabolism0.46
    Tryptophan metabolism0.46
    4Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
    Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA0.67
    mitochondrial fatty acid beta-oxidation of saturated fatty acids0.62
    Beta oxidation of hexanoyl-CoA to butanoyl-CoA0.67
    Beta oxidation of butanoyl-CoA to acetyl-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
    5Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Fatty acid, triacylglycerol, and ketone body metabolism0.52

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/6 BioSystems Pathways for HADH (see all 6)
        Fatty Acid Beta Oxidation
    fatty acid beta-oxidation I
    FOXA2 and FOXA3 transcription factor networks
    Mitochondrial LC-Fatty Acid Beta-Oxidation
    Tryptophan metabolism

    5/10        Reactome Pathways for HADH (see all 10)
        mitochondrial fatty acid beta-oxidation of saturated fatty acids
    Metabolism
    Beta oxidation of hexanoyl-CoA to butanoyl-CoA
    Beta oxidation of butanoyl-CoA to acetyl-CoA
    Fatty acid, triacylglycerol, and ketone body metabolism


    5/7         Kegg Pathways  (Kegg details for HADH) (see all 7):
        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


    HADH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HADH

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

    5/38 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): 5/10 biological process terms (GO ID links to tree view) (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 stimulus ----
    GO:0014823response to activity ----
    GO:0032868response to insulin stimulus ----

    HADH 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

    HADH for compounds           About GeneDecksing

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

    Browse Tocris compounds for HADH (HCDH)

    10/26 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)

    Search CenterWatch for drugs/clinical trials and news about HADH / HCDH

    (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 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
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HADH
    3 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HADH
    QIAGEN FlexiTube/FlexiPlate 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
    Sirion Biotech Customized lentivirus for stable overexpression of HADH 
                         Customized lentivirus expression plasmids for stable overexpression of HADH 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for HADH
    OriGene qSTAR qPCR primer pairs in human, mouse for HADH
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HADH
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HADH
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat 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 

    24/340 AceView cDNA sequences (see all 340):

    BG166962 CR590438 AI355081 AI095852 CR618120 BM311918 BM672086 BM312222 
    BQ009194 BM510048 BM905927 W77974 AI346992 T87911 BM797221 AI089645 
    W72096 BQ182966 AA857901 BG740540 AA902383 BM512492 CA393734 BQ225930 

    GeneLoc Exon Structure

    5/6 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™, 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

    HADH expression in normal human tissues (normalized intensities)      HADH embryonic expression: see
    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 
     5/40 selected tissues (see all 40) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Nose (Sensory Organs)    fully expand to see all 3 entries
             nasopharynx ; respiratory epithelial cells   
             sensory organ/nose/nasal cavity   

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

    SOURCE GeneReport for Unigene cluster: Hs.438289

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

        SABiosciences Expression via Pathway-Focused PCR Array including HADH: 
              Amino Acid Metabolism II in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for HADH
    OriGene qSTAR qPCR primer pairs in human, mouse for HADH
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HADH
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HADH
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HADH
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HADH

    (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 HADH gene from 8/19 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_008212.31  NP_032238.21 
     1312334195 
    chicken
    (Gallus gallus)
    Aves HADH1 hydroxyacyl-CoA dehydrogenase 75.93(n)
    78.27(a)
      420290  XM_418403.3  XP_418403.2 
    lizard
    (Anolis carolinensis)
    Reptilia HADH6
    Uncharacterized protein
    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 Protein B0272.3 56.22(n)
    55.45(a)
      181169  NM_077183.4  NP_509584.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G152901 3-hydroxybutyryl-CoA dehydrogenase 47.21(n)
    41.28(a)
      820760  NM_112392.3  NP_188147.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g07964001 hypothetical protein 48.24(n)
    44.37(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)
    About This Section
    Paralogs for HADH gene
    EHHADH2  HADHA2  

    HADH for paralogs           About GeneDecksing


    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) 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

    10/1001 SNPs in HADH are shown (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--------
    VAR_0267644
    ----see VAR_0267642 L P 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--------

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 18 diseases for HADH:    About MalaCards
    3-hydroxyacyl-coa dehydrogenase deficiency    3-hydroxyacyl-coenzyme a dehydrogenase deficiency    hyperinsulinemic hypoglycemia, familial, 4    hadh-related hyperinsulinism
    hyperinsulinism    hypoglycemia    hyperinsulinemic hypoglycemia    familial hyperinsulinism
    hellp syndrome    zellweger syndrome    adrenoleukodystrophy    alcohol dependence
    protein s deficiency    metabolic disorders    myopathy    alcoholism
    tuberculosis    hepatitis

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

    HADH for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for HADH gene, integrated from 9 sources (see all 71):
    (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. (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. (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. (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. (2001)
    5. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    6. A systematic gene-based screen of chr4q22-q32 identif ies association of a novel susceptibility gene, DKK2, with the quantitative tra it of alcohol dependence symptom counts. (PubMed id 20332099)1, 4 Kalsi G....Riley B.P. (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. (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. (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. (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. (2006)

    (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: 3033 HGNC: 4799 AceView: HADHSC Ensembl:ENSG00000138796 euGenes: HUgn3033
    ECgene: HADH Kegg: 3033 H-InvDB: HADH

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for HADH   OriGene RNAi products in human, mouse, rat for HADH  
     OriGene qPCR primer pairs and template standards for HADH   OriGene Protein Over-expression Lysate for HADH  
     OriGene MassSpec something-or-other for HADH   OriGene clones in human, mouse for HADH  
     OriGene qSTAR qPCR primer pairs in human, mouse for HADH   OriGene Purified Protein for HADH  
     OriGene ORF clones in mouse, rat for HADH   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for HADH   OriGene Custom Protein Services for HADH  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HADH
     QIAGEN SeqTarget long-range PCR primers for resequencing HADH
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HADH
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HADH
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HADH
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HADH
     GenScript Custom Purified and Recombinant Proteins Services for HADH GenScript cDNA clones with any tag delivered in your preferred vector for HADH
     GenScript Custom Assay Services for HADH GenScript Custom Superior Antibodies Services for HADH
     GenScript Custom overexpressing Cell Line Services for HADH CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in HADH promoter
     Search Chromatin IP Primers for HADH
     RT2 qPCR Primer Assay in human, mouse, rat HADH
     GNC Network for HADH
     SABiosciences PCR Arrays including human, mouse, rat HADH
     Search Tocris compounds for HADH (HCDH)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     HADH antibodies
     HADH proteins
     HADH lysates
     Antibodies for HADH
     See all of Abcam's Antibodies, Kits and Proteins for HADH
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for HADH




     Proteins for HADH
     Antibodies for HADH
     ELISAs for HADH
     CLIAs for HADH
     Search LifeMap BioReagents cell lines for HADH
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HADH
     SwitchGear 3'UTR luciferase reporter plasmids for HADH
     SwitchGear Promoter luciferase reporter plasmids for HADH
     ThermoFisher Antibody for HADH
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HADH
     inGenious Targeting Laboratory - Custom generated mouse model solutions for HADH
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HADH
    Customized:
     lentivirus for stable overexpression of HADH
     lentivirus expression plasmids for stable overexpression of HADH
     adenovirus for overexpression of HADH
     LSBio Antibodies in human, mouse, rat for HADH
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      HADH gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4