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

ADHFE1 Gene

protein-coding   GIFtS: 57
GCID: GC08P067344

alcohol dehydrogenase, iron containing, 1
 Explore 10 diseases affiliated with
ADHFE1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ADHFE1    

Aliases
for ADHFE1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Alcohol Dehydrogenase, Iron Containing, 11 2     FLJ324301
HOT2 3 5     Alcohol Dehydrogenase 82
ADHFe11 3     Fe-Containing Alcohol Dehydrogenase 12
Alcohol Dehydrogenase Iron-Containing Protein 12 3     Hydroxyacid-Oxoacid Transhydrogenase, Mitochondrial2
EC 1.1.99.243 8     Fe-Containing Alcohol Dehydrogenase3
ADH82 5     

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


Summaries
for ADHFE1 gene

(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:
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)

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




Genomic Views
for ADHFE1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_008183.19  
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 plasmid: ADHFE1 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

Proteins
for ADHFE1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom Protein Services for ADHFE1 
    GenScript Custom Purified and Recombinant Proteins Services for ADHFE1
    Novus Biologicals ADHFE1 Proteins
    Novus Biologicals ADHFE1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for ADHFE1 
    GenScript Custom Superior Antibodies Services for ADHFE1
    Novus Biologicals ADHFE1 Antibodies
    Search for Antibodies for ADHFE1 at Abcam  
    Uscn Antibodies for ADHFE1
    ThermoFisher Antibodies for ADHFE1

    Assay Products for ADHFE1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ADHFE1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ADHFE1

    Protein Domains /
    Families
    for ADHFE1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ADHFE1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001670 ADH_Fe

    Graphical View of Domain Structure for InterPro Entry Q8IWW8

    ProtoNet protein and cluster: Q8IWW8

    1 Blocks protein family: IPB001670 Iron-containing alcohol dehydrogenase

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


    Function
    for ADHFE1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: ADHFE1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ADHFE1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate ADHFE1:
    hsa-miR-362-5p
    SwitchGear 3'UTR luciferase reporter plasmid: ADHFE1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ADHFE1 (see all 7)
    OriGene shRNA RFP: ADHFE1
    OriGene siRNA: ADHFE1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ADHFE1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ADHFE1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ADHFE1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ADHFE1 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: ADHFE1 (NM_144650)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ADHFE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADHFE1 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for ADHFE1
    Search LifeMap BioReagents cell lines for ADHFE1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADHFE1

    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


    1 GenomeRNAi human phenotype for ADHFE1:
     Decreased TP53 protein express 


    Pathways & Interactions
    for ADHFE1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Retinol metabolism
    		Retinol metabolism1.00
    		Retinol metabolism0.95
    2Interconversion of 2-oxoglutarate and 2-hydroxyglutarate
    		Interconversion of 2-oxoglutarate and 2-hydroxyglutarate1.00
    3Metabolism
    		Metabolism1.00
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    		The citric acid (TCA) cycle and respiratory electron transport0.72
    5TCA Cycle
    		Pyruvate metabolism and Citric Acid (TCA) cycle0.64

    Pathway sources
    See GeneCards unified pathways
    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): 3 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:0044281small molecule metabolic process TAS--


    ADHFE1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ADHFE1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 

    Transcripts
    for ADHFE1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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

    miRNA
    Products:             		 OriGene 3'-UTR Clone: ADHFE1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ADHFE1
    1 QIAGEN miScript miRNA Assays for microRNA that regulate ADHFE1:
    hsa-miR-362-5p
    SwitchGear 3'UTR luciferase reporter plasmid: ADHFE1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ADHFE1 (see all 7)
    OriGene shRNA RFP: ADHFE1
    OriGene siRNA: ADHFE1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ADHFE1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ADHFE1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ADHFE1 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: ADHFE1 (NM_144650)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ADHFE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADHFE1 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ADHFE1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ADHFE1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ADHFE1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ADHFE1

    Additional cDNA 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):

    AI421311 N70632 AI625744 F12668 BX099895 AK055047 CD723300 AK096336 
    BM919559 AI185882 BQ182872 AI755255 AI376826 BI488962 BC028400 BI599368 
    CA430928 R63499 Z38145 BI764499 F10279 BG150536 CB992374 AA854763 

    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

    Expression
    for ADHFE1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCAAGGATGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ADHFE1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSertoli cellsTestis
    BoneZeugopod Epiphyseal EndBone
    BoneZeugopod Growth PlateBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)

    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

        SABiosciences Custom PCR Arrays for ADHFE1
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ADHFE1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ADHFE1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ADHFE1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ADHFE1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADHFE1

    Orthologs
    for ADHFE1 gene

    (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 last universal common ancestor (LUCA).

    Orthologs for ADHFE1 gene from 8/26 species (see all 26)    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
    		 --
    		 79(a)
    		 1 ↔ 1
    		 4(30817197-30836489)
    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 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria eutE6
    yqhD6
    		 aldehyde reductase, NADPH-dependent
    		 5(a)
    20(a)
    		 possible ortholog
    1 ↔ 1
    		 Chromosome(2568370-2569773)
    Chromosome(3153377-3154540)


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

    Paralogs
    for ADHFE1 gene

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

    Genomic Variants
    for ADHFE1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/676 NCBI SNPs in ADHFE1 are shown (see all 676)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs578504871,2
    		--67343478(+) TTATGC/GCTTTC 1 -- us2k10--------
    rs1886987281,2
    		--67343594(+) ATATCC/GCCAGT 1 -- us2k10--------
    rs1811725131,2
    		--67343680(+) ATAAGA/GTCCTT 1 -- us2k10--------
    rs1138183411,2
    		--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--------
    rs1824886161,2
    		--67344471(+) AGTTGA/GTAAGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ADHFE1 (67342420 - 67383836 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ADHFE1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ADHFE1
    DNA2.0 Custom Variant and Variant Library Synthesis for ADHFE1

    Disorders / Diseases
    for ADHFE1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ADHFE1 for disorders           About GeneDecksing

    OMIM gene information: 611083    OMIM disorders: --

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

    1 disease from the University of Copenhagen DISEASES database for ADHFE1:
    Erythromelalgia
    Human Genome Epidemiology (HuGE) Navigator: ADHFE1 (1 document)

    Export disorders for ADHFE1 gene to outside databases

    Publications
    for ADHFE1 gene

    (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 12):
    (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. 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)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    6. 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)
    7. 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)
    8. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    9. Identification of the gene encoding hydroxyacid-oxoacid transhydrogenase, an enzyme that metabolizes 4-hydroxybutyrate. (PubMed id 16616524)1 Kardon T....Schaftingen E.V. (2006)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)

    External Searches for ADHFE1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ADHFE1 gene

    (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

    Other Databases showing ADHFE1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ADHFE1 gene

    (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

    Intellectual Property
    for ADHFE1 gene

    (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



    Products
    for ADHFE1 gene

    (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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    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 Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for ADHFE1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ADHFE1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ADHFE1  
     Browse OriGene Protein Over-expression Lysates   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for ADHFE1   OriGene 3'-UTR Clone for ADHFE1  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ADHFE1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ADHFE1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ADHFE1   OriGene Custom Protein Services for ADHFE1  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ADHFE1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ADHFE1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ADHFE1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ADHFE1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ADHFE1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ADHFE1
     GenScript Custom Purified and Recombinant Proteins Services for ADHFE1 GenScript cDNA clones with any tag delivered in your preferred vector for ADHFE1
     GenScript Custom Assay Services for ADHFE1 GenScript Custom Superior Antibodies Services for ADHFE1
     GenScript Custom overexpressing Cell Line Services for ADHFE1 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 ADHFE1 promoter
     Search Chromatin IP Primers for ADHFE1
     RT2 qPCR Primer Assay in human, mouse, rat ADHFE1
     Search GNC Networks for ADHFE1
     SABiosciences Custom PCR Arrays for ADHFE1
     Search Tocris compounds for ADHFE1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     ADHFE1 antibodies
     ADHFE1 proteins
     ADHFE1 lysates
     Search for Antibodies for ADHFE1 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for ADHFE1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     ADHFE1 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for ADHFE1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADHFE1
     SwitchGear 3'UTR luciferase reporter plasmids for ADHFE1
     SwitchGear Promoter luciferase reporter plasmids for ADHFE1
     ThermoFisher Antibodies for ADHFE1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADHFE1
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    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

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      ADHFE1 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4