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

ADHFE1 Gene

protein-coding   GIFtS: 59
GCID: GC08P067344

Alcohol Dehydrogenase, Iron Containing, 1

  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
Alcohol Dehydrogenase, Iron Containing, 11 2     Alcohol Dehydrogenase 82
HOT2 3 5     Fe-Containing Alcohol Dehydrogenase 12
Alcohol Dehydrogenase Iron-Containing Protein 12 3     Hydroxyacid-Oxoacid Transhydrogenase, Mitochondrial2
EC 1.1.99.243 8     ADHFe13
ADH82 5     Fe-Containing Alcohol Dehydrogenase3
Hydroxyacid-Oxoacid Transhydrogenase1     

External Ids:    HGNC: 163541   Entrez Gene: 1378722   Ensembl: ENSG000001475767   OMIM: 6110835   UniProtKB: Q8IWW83   

Export aliases for ADHFE1 gene to outside databases

Previous GC identifers: GC08P067067 GC08P067394 GC08P067507 GC08P062834


(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 ADHFE1 Gene:
The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the
oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 (PubMed 16616524)).(supplied by OMIM,
Mar 2008)

GeneCards Summary for ADHFE1 Gene: 
ADHFE1 (alcohol dehydrogenase, iron containing, 1) is a protein-coding gene. Diseases associated with ADHFE1 include pontiac fever, and patellar tendinitis, and among its related super-pathways are Retinol metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include hydroxyacid-oxoacid transhydrogenase activity and metal ion binding.

UniProtKB/Swiss-Prot: HOT_HUMAN, Q8IWW8
Function: Catalyzes the cofactor-independent reversible oxidation of gamma-hydroxybutyrate (GHB) to succinic
semialdehyde (SSA) coupled to reduction of 2-ketoglutarate (2-KG) to D-2-hydroxyglutarate (D-2-HG).
D,L-3-hydroxyisobutyrate and L-3-hydroxybutyrate (L-3-OHB) are also substrates for HOT with 10-fold lower
activities




(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_000008.10  NT_008183.19  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ADHFE1 gene promoter:
         GR   NRF-2   AML1a   GR-beta   Nkx2-5   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADHFE1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ADHFE1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ADHFE1


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

Entrez Gene cytogenetic band: 8q13.1   Ensembl cytogenetic band:  8q13.1   HGNC cytogenetic band: 8q12.3

ADHFE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADHFE1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P067344:  view genomic region     (about GC identifiers)

Start:
67,342,420 bp from pter      End:
67,383,836 bp from pter
Size:
41,417 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: HOT_HUMAN, Q8IWW8 (See protein sequence)
Recommended Name: Hydroxyacid-oxoacid transhydrogenase, mitochondrial precursor  
Size: 467 amino acids; 50308 Da
Subcellular location: Mitochondrion (By similarity)
Secondary accessions: B4DTJ8 Q49A19 Q68CI7 Q6P2B6 Q96MF9
Alternative splicing: 4 isoforms:  Q8IWW8-1   Q8IWW8-2   Q8IWW8-3   Q8IWW8-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ADHFE1: NX_Q8IWW8

Explore proteomics data for ADHFE1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IWW8

  • 4/9 DME Specific Peptides for ADHFE1 (Q8IWW8) (see all 9)
     GTLPQER  PLIAVPTT  YQGSNPISD  LADTLRKFL 

    ADHFE1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ADHFE1 Protein Expression
    REFSEQ proteins: NP_653251.2  
    ENSEMBL proteins: 
     ENSP00000428055   ENSP00000379865   ENSP00000407115   ENSP00000410883   ENSP00000276576  
     ENSP00000379864   ENSP00000406905   ENSP00000392925   ENSP00000416450   ENSP00000387956  
     ENSP00000409714   ENSP00000392040   ENSP00000368695  
    Reactome Protein details: Q8IWW8
    Human Recombinant Protein Products for ADHFE1: 
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    Novus Biologicals ADHFE1 Lysate
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ADHFE1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ISS--
    GO:0005759mitochondrial matrix TAS--

    ADHFE1 for ontologies           About GeneDecksing



    ADHFE1 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for ADHFE1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ADH: Alcohol dehydrogenases

    1 InterPro protein domain:
     IPR001670 ADH_Fe

    Graphical View of Domain Structure for InterPro Entry Q8IWW8

    ProtoNet protein and cluster: Q8IWW8

    1 Blocks protein domain: IPB001670 Iron-containing alcohol dehydrogenase

    UniProtKB/Swiss-Prot: HOT_HUMAN, Q8IWW8
    Similarity: Belongs to the iron-containing alcohol dehydrogenase family. Hydroxyacid-oxoacid transhydrogenase
    subfamily


    ADHFE1 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: HOT_HUMAN, Q8IWW8
    Function: Catalyzes the cofactor-independent reversible oxidation of gamma-hydroxybutyrate (GHB) to succinic
    semialdehyde (SSA) coupled to reduction of 2-ketoglutarate (2-KG) to D-2-hydroxyglutarate (D-2-HG).
    D,L-3-hydroxyisobutyrate and L-3-hydroxybutyrate (L-3-OHB) are also substrates for HOT with 10-fold lower
    activities
    Catalytic activity: (S)-3-hydroxybutanoate + 2-oxoglutarate = acetoacetate + (R)-2-hydroxyglutarate
    Catalytic activity: 4-hydroxybutanoate + 2-oxoglutarate = succinic semialdehyde + (R)-2-hydroxyglutarate
    Biophysicochemical properties: Kinetic parameters: KM=0.17 mM for GHB; KM=1.2 mM for 2-KG; KM=0.12 mM for D-2-HG;
    KM=0.04 mM for SSA; KM=0.8 mM for L-3-OHB; Vmax=16 nmol/h/mg enzyme with GHB and 2-KG as substrates; Vmax=0.5
    nmol/h/mg enzyme with SSA and D-2-HG as substrates; Vmax=1.8 nmol/h/mg enzyme with L-3-OHB and 2-KG as
    substrates; pH dependence: Optimum pH is 7.5;

         Enzyme Number (IUBMB): EC 1.1.99.241 2

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016491oxidoreductase activity ----
    GO:0046872metal ion binding IEA--
    GO:0047988hydroxyacid-oxoacid transhydrogenase activity IDA16435184
         
    ADHFE1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ADHFE1:
     Decreased TP53 protein express 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ADHFE1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ADHFE1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ADHFE1 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ADHFE1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Retinol metabolism
    Retinol metabolism0.95
    2Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.72
    3Pyruvate metabolism
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    4Metabolism
    Metabolism0.40
    5Interconversion of 2-oxoglutarate and 2-hydroxyglutarate
    Interconversion of 2-oxoglutarate and 2-hydroxyglutarate

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for ADHFE1
        Retinol metabolism


    1 GeneGo (Thomson Reuters) Pathway for ADHFE1
        Retinol metabolism

    4        Reactome Pathways for ADHFE1
        Interconversion of 2-oxoglutarate and 2-hydroxyglutarate
    Pyruvate metabolism and Citric Acid (TCA) cycle
    Metabolism
    The citric acid (TCA) cycle and respiratory electron transport



    ADHFE1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ADHFE1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for ADHFE1 (ENSP000003798654) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GNAQENSP000002865484STRING: ENSP00000286548
    LIPCENSP000002990224STRING: ENSP00000299022
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:00061032-oxoglutarate metabolic process TAS--
    GO:0015993molecular hydrogen transport IDA16435184
    GO:0044237cellular metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0055114oxidation-reduction process ----

    ADHFE1 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ADHFE1 (HOT)

    10/13 HMDB Compounds for ADHFE1 (see all 13)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (S)-3-Hydroxybutyric acid(S)-3-hydroxy-Butanoic acid (see all 25)6168-83-8--
    1-Butanol1-Butanol (see all 10)71-36-3--
    1-Hexanol1-Hexyl alcohol (see all 30)111-27-3--
    1-Pentanol1-Pentol (see all 34)71-41-0--
    Acetoacetic acid3-Ketobutyrate (see all 9)541-50-4--
    D-2-Hydroxyglutaric acid(R)-2-Hydroxyglutarate (see all 20)2889-31-8--
    Ethanol1-Hydroxyethane (see all 57)64-17-5--
    IronArmco iron (see all 19)7439-89-6--
    Isobutanol1-Hydroxymethylpropane (see all 18)78-83-1--
    Isopropyl alcohol2-Propanol (see all 12)67-63-0--

    Search CenterWatch for drugs/clinical trials and news about ADHFE1 / HOT

    (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 ADHFE1 gene: 
    NM_144650.2  

    Unigene Cluster for ADHFE1:

    Alcohol dehydrogenase, iron containing, 1
    Hs.720023  [show with all ESTs]
    Unigene Representative Sequence: BC047492
    18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000523113 ENST00000396623(uc003xwb.4 uc003xwc.4 uc011les.2)
    ENST00000415254 ENST00000424777(uc011leq.1 uc011ler.1 uc003xwd.4 uc003xwe.4 uc003xwf.4)
    ENST00000276576 ENST00000396621 ENST00000426810 ENST00000496501 ENST00000466920
    ENST00000431959 ENST00000449512 ENST00000422166 ENST00000443372 ENST00000463261
    ENST00000419955 ENST00000518781 ENST00000480040 ENST00000466739
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    hsa-miR-362-5p
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    Additional mRNA sequence: 

    AB075879.1 AK056992.1 AK293530.1 AK294114.1 AK300243.1 AK300881.1 AY033237.1 BC047492.1 
    BC110290.1 

    21 DOTS entries:

    DT.117087  DT.95375772  DT.99986379  DT.121477807  DT.95375755  DT.40108038  DT.121477817  DT.100023434 
    DT.97843425  DT.121477764  DT.121477907  DT.91868069  DT.92426763  DT.100023433  DT.121477827  DT.121477828 
    DT.429341  DT.92426760  DT.95375753  DT.95375773  DT.75155155 

    24/215 AceView cDNA sequences (see all 215):

    AI755255 AV727160 Z38145 AK096336 AI625744 CD723300 BQ182872 NM_152765 
    BI599368 AI084473 AI205885 AA854763 BM919559 BI761002 CB992374 AI421311 
    N70632 AI937051 BG150536 AA706249 AI185882 BC028400 BI762361 BX099895 

    GeneLoc Exon Structure

    5/15 Alternative Splicing Database (ASD) splice patterns (SP) for ADHFE1 (see all 15)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ·
    SP1:                                                                                                                    -           -                           
    SP2:                                                                                      -     -                       -           -                           
    SP3:                    -                                                                                               -           -                           
    SP4:                    -                                                                 -     -                       -           -                           
    SP5:              -                       -     -     -                                                                                                         

    ExUns: 16c ^ 17
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for ADHFE1

    (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

    ADHFE1 expression in normal human tissues (normalized intensities)      ADHFE1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAAGGATGT
    ADHFE1 Expression
    About this image


    ADHFE1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Thalamus
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Zeugopod Growth Plate
     
     Kidney (Urinary System)
             Metanephros
     
     Lower Urinary Tract (Urinary System)
             visceral organ   

    See ADHFE1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ADHFE1

    SOURCE GeneReport for Unigene cluster: Hs.720023

    UniProtKB/Swiss-Prot: HOT_HUMAN, Q8IWW8
    Tissue specificity: Only expressed in adult liver

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

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ADHFE1 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 Adhfe11 , 5 alcohol dehydrogenase, iron containing, 11, 5 86.74(n)1
    89.68(a)1
      1 (2.08 cM)5
    761871  NM_175236.41  NP_780445.11 
     95479485 
    chicken
    (Gallus gallus)
    Aves ADHFE11 alcohol dehydrogenase, iron containing, 1 77.75(n)
    83.61(a)
      426446  XM_424090.3  XP_424090.2 
    lizard
    (Anolis carolinensis)
    Reptilia ADHFE16
    Uncharacterized protein
    78(a)
    1 ↔ 1
    4(30816785-30836489)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.158642 Xenopus laevis transcribed sequence with weak similarity more 77.02(n)    BJ069360.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.168672 Transcribed sequence with weak similarity to protein more 75.4(n)    CA470887.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta T3dh1 Type III alcohol dehydrogenase 59.24(n)
    58.87(a)
      37551  NM_057861.2  NP_477209.2 
    worm
    (Caenorhabditis elegans)
    Secernentea Y38F1A.61 Protein Y38F1A.6 50.64(n)
    48.54(a)
      174942  NM_064363.3  NP_496764.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ADH4(YGL256W)4 Alcohol dehydrogenase isoenzyme type IV, dimeric enzyme more   --   7(15159-16307) 852636  NP_011258.1 


    ENSEMBL Gene Tree for ADHFE1 (if available)
    TreeFam Gene Tree for ADHFE1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/805 SNPs in ADHFE1 are shown (see all 805)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0394704
    A breast cancer sample4--see VAR_0394702 D V mis40--------
    rs578504871,2
    --67343478(+) TTATGC/GCTTTC 1 -- us2k10--------
    rs1886987281,2
    --67343594(+) ATATCC/GCCAGT 1 -- us2k10--------
    rs1811725131,2
    --67343680(+) ATAAGA/GTCCTT 1 -- us2k10--------
    rs1138183411,2
    F--67343718(+) GTTCCG/AGAGTA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1860236801,2
    --67343854(+) AATGTA/GTGTTG 1 -- us2k10--------
    rs353520311,2
    C,F,H--67344005(+) TGATCG/TCAGTA 1 -- us2k126Minor allele frequency- T:0.33NS EA NA WA CSA 2776
    rs1149355831,2
    F--67344261(+) TTCATC/AAAAAG 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs756702581,2
    C,F--67344422(+) TATCCC/TTGTTC 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1911731801,2
    --67344441(+) TCCCCC/TAAGTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ADHFE1 (67342420 - 67383836 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ADHFE1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv6237CNV Insertion18451855
    nsv465702CNV Loss19166990
    nsv6236CNV Loss18451855

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611083    OMIM disorders: --

    9 diseases for ADHFE1:    About MalaCards
    pontiac fever    patellar tendinitis    erythromelalgia    alcohol-related neurodevelopmental disorder
    alcoholism    legionnaires' disease    hepatoblastoma    intrahepatic cholangiocarcinoma
    cholangiocarcinoma


    ADHFE1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ADHFE1
    Human Genome Epidemiology (HuGE) Navigator: ADHFE1 (1 document)

    Export disorders for ADHFE1 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 ADHFE1 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with ADHFE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of a novel human alcohol dehydrogenase gene (ADHFe1). (PubMed id 12592711)1, 2, 3, 9 Deng Y.... Mao Y. (2002)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma- hydroxybutyric acidurias. (PubMed id 16435184)1, 2 Struys E.A.... Jakobs C. (2005)
    4. Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas. (PubMed id 15221005)1, 2 Yamada S....Nakagawara A. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Alcohol dehydrogenase, iron containing, 1 promoter hyp ermethylation associated with colorectal cancer differentiation. (PubMed id 23517143)1 Tae C.H....Kim Y.H. (2013)
    7. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    8. Enzymes involved in the metabolism of gamma-hydroxybutyrate in SH-SY5Y cells: identification of an iron-dependent alcohol dehydrogenase ADHFe1. (PubMed id 19013439)1 Lyon R.C....Ellis E.M. (2009)
    9. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)1 Wang A.G....Kim N.S. (2006)
    10. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)

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

      Query String
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    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: 137872 HGNC: 16354 AceView: ADHFE1andMGC33510 Ensembl:ENSG00000147576 euGenes: HUgn137872
    ECgene: ADHFE1 H-InvDB: ADHFE1

    (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 ADHFE1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ADHFE1 gene:
    Search GeneIP for patents involving ADHFE1

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



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