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AUH Gene

protein-coding   GIFtS: 63
GCID: GC09M093976

AU RNA Binding Protein/Enoyl-CoA Hydratase

(Previous names: AU RNA-binding protein/enoyl-Coenzyme A hydratase, AU RNA...)
  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)
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Aliases
AU RNA Binding Protein/Enoyl-CoA Hydratase1 2     AU-Specific RNA-Binding Enoyl-CoA Hydratase2 3
AU RNA Binding Protein/Enoyl-Coenzyme A Hydratase1 2     3-Methylglutaconyl-CoA Hydratase2
AU RNA-Binding Protein/Enoyl-Coenzyme A Hydratase1 2     Methylglutaconyl-CoA Hydratase, Mitochondrial2
AU-Binding Protein/Enoyl-CoA Hydratase2 3     EC 4.2.1.183

External Ids:    HGNC: 8901   Entrez Gene: 5492   Ensembl: ENSG000001480907   OMIM: 6005295   UniProtKB: Q138253   

Export aliases for AUH gene to outside databases

Previous GC identifers: GC09M084815 GC09M085704 GC09M087275 GC09M089317 GC09M091055 GC09M093015 GC09M063656


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AUH Gene:
The methylglutaconyl-CoA hydratase, mitochondrial protein binds to the AU-rich element (ARE), a common element
found in the 3' UTR of rapidly decaying mRNA such as c-fos, c-myc and granulocyte/ macrophage colony stimulating
factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. AUH is also homologous
to enol-CoA hydratase, an enzyme involved in fatty acid degradation, and has been shown to have intrinsic
hydratase enzymatic activity. AUH is thus a bifunctional chimera between RNA binding and metabolic enzyme
activity. A possible subcellular localization in the mitochondria has been demonstrated for the mouse homolog of
this protein which shares 92% identity with the human protein. It has been suggested that AUH may have a novel
role as a mitochondrial located AU-binding protein. Human AUH is expressed as a single mRNA species of 1.8 kb,
and translated as a 40-kDa precursor protein which is subsequently processed to a 32-kDa mature form. (provided
by RefSeq, May 2010)

GeneCards Summary for AUH Gene:
AUH (AU RNA binding protein/enoyl-CoA hydratase) is a protein-coding gene. Diseases associated with AUH include 3 methylglutaconic aciduria type i, and 3-methylglutaconic aciduria. GO annotations related to this gene include mRNA 3'-UTR binding and enoyl-CoA hydratase activity. An important paralog of this gene is CDY2A.

UniProtKB/Swiss-Prot: AUHM_HUMAN, Q13825
Function: Catalyzes the conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA. Has very low
enoyl-CoA hydratase activity. Was originally identified as RNA-binding protein that binds in vitro to clustered
5'-AUUUA-3' motifs




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AUH gene promoter:
         ISGF-3   AML1a   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   RelA   POU3F2   NF-kappaB   FOXJ2 (long isoform)   FOXJ2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAUH promoter sequence
   Search Chromatin IP Primers for AUH

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


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

Entrez Gene cytogenetic band: 9q22.31   Ensembl cytogenetic band:  9q22.31   HGNC cytogenetic band: 9q22

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M093976:  view genomic region     (about GC identifiers)

Start:
93,976,097 bp from pter      End:
94,124,206 bp from pter
Size:
148,110 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AUHM_HUMAN, Q13825 (See protein sequence)
Recommended Name: Methylglutaconyl-CoA hydratase, mitochondrial precursor  
Size: 339 amino acids; 35609 Da
Subunit: Homohexamer
3 PDB 3D structures from and Proteopedia for AUH:
1HZD (3D)        2ZQQ (3D)        2ZQR (3D)    
Secondary accessions: B1ALV7 B1ALV8 Q8WUE4
Alternative splicing: 2 isoforms:  Q13825-1   Q13825-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AUH: NX_Q13825

Explore proteomics data for AUH at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AUH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001689.1  
    ENSEMBL proteins: 
     ENSP00000364883   ENSP00000307334   ENSP00000402026  
    Reactome Protein details: Q13825

    AUH Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for AUH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR014748 Crontonase_C
     IPR018376 Enoyl-CoA_hyd/isom_CS
     IPR001753 Crotonase_core_superfam

    Graphical View of Domain Structure for InterPro Entry Q13825

    ProtoNet protein and cluster: Q13825

    1 Blocks protein domain: IPB001753 Enoyl-CoA hydratase/isomerase

    UniProtKB/Swiss-Prot: AUHM_HUMAN, Q13825
    Similarity: Belongs to the enoyl-CoA hydratase/isomerase family


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

         UniProtKB/Swiss-Prot Summary: AUHM_HUMAN, Q13825
    Function: Catalyzes the conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA. Has very low
    enoyl-CoA hydratase activity. Was originally identified as RNA-binding protein that binds in vitro to clustered
    5'-AUUUA-3' motifs
    Catalytic activity: (S)-3-hydroxy-3-methylglutaryl-CoA = trans-3-methylglutaconyl-CoA + H(2)O

         Enzyme Number (IUBMB): EC 4.2.1.181

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding ----
    GO:0003730mRNA 3'-UTR binding IDA7892223
    GO:0003824catalytic activity ----
    GO:0004300enoyl-CoA hydratase activity IDA7892223
    GO:0004490methylglutaconyl-CoA hydratase activity EXP--
         
    AUH for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AUH
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AUH
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AUH

    miRNA
    Products:
        
    miRTarBase miRNAs that target AUH:
    hsa-mir-9-5p (MIRT021347), hsa-mir-183-5p (MIRT047037)

    Block miRNA regulation of human, mouse, rat AUH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AUH (see all 11):
    hsa-miR-16-2* hsa-miR-130a* hsa-miR-944 hsa-miR-23c hsa-miR-410 hsa-miR-9 hsa-miR-23b hsa-miR-195*
    SwitchGear 3'UTR luciferase reporter plasmidAUH 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for AUH
    Predesigned siRNA for gene silencing in human, mouse, rat AUH

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: AUH (NM_001698)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AUH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AUH

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AUH


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AUHM_HUMAN, Q13825: Mitochondrion (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion4
    cytosol1
    endoplasmic reticulum1
    extracellular1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    AUH for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for AUH About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Metabolism of amino acids and derivatives
    Branched-chain amino acid catabolism0.00
    Metabolism of amino acids and derivatives
    3Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31
    4leucine degradation I
    leucine degradation I

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for AUH
        leucine degradation I

    1 Reactome Pathway for AUH
        Branched-chain amino acid catabolism


    2 Kegg Pathways  (Kegg details for AUH):
        Valine, leucine and isoleucine degradation
    Metabolic pathways

    UniProtKB/Swiss-Prot: AUHM_HUMAN, Q13825
    Pathway: Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA:
    step 3/3


    AUH for pathways           About GeneDecksing

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

              Amino Acid Metabolism I in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for AUH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for AUH (ENSP000003648834) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HMGCLENSP000003636144STRING: ENSP00000363614
    HMGCLL1ENSP000003816544STRING: ENSP00000381654
    HMGCS1ENSP000003227064STRING: ENSP00000322706
    HMGCS2ENSP000003584144STRING: ENSP00000358414
    MCCC1ENSP000002655944STRING: ENSP00000265594
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006402mRNA catabolic process IDA7892223
    GO:0006552leucine catabolic process IEA--
    GO:0008152metabolic process ----
    GO:0009083branched-chain amino acid catabolic process TAS--
    GO:0034641cellular nitrogen compound metabolic process TAS--

    AUH for ontologies           About GeneDecksing



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

    Browse Tocris compounds for AUH (AUHM)

    4 HMDB Compounds for AUH    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Hydroxy-3-methylglutaryl-CoA(S)-3-hydroxy-3-methylglutaryl-CoA (see all 15)1553-55-5--
    3-Methylglutaconyl-CoA3-Methylglutaconyl-CoA (see all 4)6247-73-0--
    Ceramide (d18:1/16:0)(2S,3R,4E)-2-acylamino-1,3-octadec-4-enediol (see all 6)104404-17-3--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    6 Novoseek inferred chemical compound relationships for AUH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3-methylglutaconyl-coa 99.6 26 15181004 (3), 16527507 (2), 12434311 (2), 16482430 (2) (see all 15)
    3-methylglutaconic acid 97.6 1 15181004 (1)
    beta-hydroxy-beta-methylbutyrate 85.5 1 15181004 (1)
    3-methylcrotonyl-coa 83.1 1 7957389 (1)
    3-hydroxy-3-methylglutaryl-coa 76.5 3 15181004 (1), 7691603 (1), 7957389 (1)
    leucine 66.7 7 16640564 (2), 10070612 (1), 12434311 (1), 16736096 (1) (see all 5)



    AUH for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AUH gene: 
    NM_001698.2  

    Unigene Cluster for AUH:

    AU RNA binding protein/enoyl-CoA hydratase
    Hs.175905  [show with all ESTs]
    Unigene Representative Sequence: AK124142
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375731(uc004arf.4) ENST00000303617(uc004arg.4) ENST00000473695
    ENST00000478465 ENST00000475023 ENST00000422391(uc011ltu.1)
    miRNA
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    Block miRNA regulation of human, mouse, rat AUH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AUH (see all 11):
    hsa-miR-16-2* hsa-miR-130a* hsa-miR-944 hsa-miR-23c hsa-miR-410 hsa-miR-9 hsa-miR-23b hsa-miR-195*
    SwitchGear 3'UTR luciferase reporter plasmidAUH 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector: AUH (NM_001698)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AUH
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat AUH
      QuantiFast Probe-based Assays in human, mouse, rat AUH

    Additional mRNA sequence: 

    AK124142.1 AK302453.1 BC020722.1 X79888.1 

    13 DOTS entries:

    DT.453783  DT.86841242  DT.97790206  DT.100768422  DT.40206162  DT.91710942  DT.95085644  DT.95374309 
    DT.75118186  DT.91710957  DT.95374306  DT.95374308  DT.97843135 

    Selected AceView cDNA sequences (see all 102):

    H93361 AK124142 AI168621 BX097370 CB154595 AW291680 AA912910 AA780780 
    AA340083 BU619100 BF593916 CD513902 BC020722 CR620952 BM728035 AL699971 
    AA905726 AI880147 CB113286 AA863298 BF940319 AL706837 CB157342 BM503741 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for AUH    About this scheme

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


    ECgene alternative splicing isoforms for AUH

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AUH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAACCTTAAT
    AUH Expression
    About this image


    AUH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    AUH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AUH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.175905
        Pathway & Disease-focused RT2 Profiler PCR Array including AUH: 
              Amino Acid Metabolism I in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for AUH
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AUH

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AUH gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Auh1 , 5 AU RNA binding protein/enoyl-coenzyme A hydratase1, 5 84.75(n)1
    94.12(a)1
      13 (27.68 cM)5
    119921  NM_016709.21  NP_057918.21 
     528351195 
    chicken
    (Gallus gallus)
    Aves AUH1 AU RNA binding protein/enoyl-CoA hydratase 77.2(n)
    81.61(a)
      427269  NM_001252606.1  NP_001239535.1 
    lizard
    (Anolis carolinensis)
    Reptilia AUH6
    AU RNA binding protein/enoyl-CoA hydratase
    73(a)
    1 ↔ 1
    2(31920599-31970763)
    African clawed frog
    (Xenopus laevis)
    Amphibia CF342434.12   -- 78.03(n)    CF342434.1 
    zebrafish
    (Danio rerio)
    Actinopterygii auh1 AU RNA binding protein/enoyl-Coenzyme A hydratase 67.76(n)
    72(a)
      445182  NM_001003576.1  NP_001003576.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG87781 , 3 AU-specific RNA binding3
    CG87781
    61(a)3
    56.19(n)1
    59.09(a)1
      49B123
    363921  NM_136961.21  NP_610805.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F56B3.53
    ech-51
    ech-51 48(a)3
    51.99(n)1
    50.75(a)1
      IV(797030-799611)3
    1769081  NM_067592.41  NP_499993.21 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G168001 AT4G16800 51.74(n)
    46.21(a)
      827386  NM_117782.3  NP_193413.2 
    rice
    (Oryza sativa)
    Liliopsida Os02g06541001 Os02g0654100 54.02(n)
    47.59(a)
      4330184  NM_001054144.1  NP_001047609.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AUH gene
    CDY2A2  ECI22  CDY2B2  CDYL22  ECHDC32  ECHS12  CDY1B2  ECHDC22  
    CDYL2  ECH12  CDY12  
    2 SIMAP similar genes for AUH using alignment to 2 protein entries:     AUHM_HUMAN (see all proteins):
    ECHDC2    ECHS1

    AUH for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AUH (see all 2732)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0169114
    3-methylglutaconic aciduria 1 (MGA1)4--see VAR_0169112 A V mis40--------
    rs354850721,2
    C--63681746(+) TTCTGT/-TTTTT 1 -- int11Minor allele frequency- -:0.50NA 2
    rs286209611,2
    C--63681758(+) TTTTTC/TATCCT 1 -- int1 trp31Minor allele frequency- T:0.50CSA 2
    rs1471175081,2
    C--63681758(+) TTTTT-/C/T/TT
            
    ATCCT
    1 -- int10--------
    rs1443504881,2
    C--63708953(+) TCTCA-/AAAT  
            
    AAATA
    1 -- int10--------
    rs755153671,2
    C--63715976(+) CCTTG-/TTAACA 1 -- int10--------
    rs1995949921,2
    --63728148(+) ACAAC-/AACAG 
     TATTATA
    AAGGG
    1 -- int10--------
    rs351713221,2
    C--63728150(+) AACAA-/CAGTAT
    TATAAAGG
    GCAGT
    1 -- int10--------
    rs342234811,2
    C--63732777(+) AAGGCAGG/-AGGAT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1486184291,2
    C--63734513(+) GTGTC-/AAAAAAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for AUH (93976097 - 94124206 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for AUH:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2657277CNV Deletion23128226
    esv2491583CNV Deletion19546169
    esv2676899CNV Deletion23128226
    esv267496CNV Insertion20981092
    nsv523129CNV Loss19592680
    nsv893570CNV Loss21882294
    esv21900CNV Loss19812545
    nsv893571CNV Gain21882294

    Human Gene Mutation Database (HGMD): AUH
    Locus Specific Mutation Databases (LSDB): AUH

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AUH
    DNA2.0 Custom Variant and Variant Library Synthesis for AUH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600529   
    OMIM disorders: 250950  
    UniProtKB/Swiss-Prot: AUHM_HUMAN, Q13825
  • 3-methylglutaconic aciduria 1 (MGA1) [MIM:250950]: An inborn error of leucine metabolism. It leads to an
    autosomal recessive syndrome with variable clinical phenotype, ranging from delayed speech development to severe
    psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. MGA1 can be distinguished from
    other forms of MGA by the pattern of metabolite excretion: 3-methylglutaconic acid levels are higher than those
    detected in other forms, whereas methylglutaric acid levels are usually only slightly elevated and there is a
    high level of 3-hydroxyisovaleric acid excretion (not present in other MGA forms). Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 19 diseases for AUH:    
    About MalaCards
    3 methylglutaconic aciduria type i    3-methylglutaconic aciduria    leigh-like syndrome    metabolic acidosis
    lactic acidosis    optic atrophy    hypertrophic cardiomyopathy    cleft lip
    pulmonary function    cataract    diabetic nephropathy    tuberculosis
    tonsillitis    thyroiditis    multiple myeloma    myeloma
    cerebritis    malaria    prostatitis

    1 disease from the University of Copenhagen DISEASES database for AUH:
    Optic atrophy

    AUH for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for AUH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metabolic disorder 55.7 1 10070612 (1)
    acidosis lactic 48.2 1 16736096 (1)
    developmental delay 41.4 1 16736096 (1)

    Genetic Association Database (GAD): AUH
    Human Genome Epidemiology (HuGE) Navigator: AUH (2 documents)

    Export disorders for AUH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AUH gene, integrated from 10 sources (see all 37):
    (articles sorted by number of sources associating them with AUH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. AUH, a gene encoding an AU-specific RNA binding protein with intrinsic enoyl-CoA hydratase activity. (PubMed id 7892223)1, 2, 3, 9 Nakagawa J....Moroni C. (Proc. Natl. Acad. Sci. U.S.A. 1995)
    2. Crystal structure of human AUH protein, a single-stranded RNA binding homolog of enoyl-CoA hydratase. (PubMed id 11738050)1, 2, 9 Kurimoto K.... Yokoyama S. (Structure 2001)
    3. 3-methylglutaconic aciduria type I is caused by mutations in AUH. (PubMed id 12434311)1, 2, 9 Ijlst L....Wanders R.J.A. (Am. J. Hum. Genet. 2002)
    4. Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. (PubMed id 12655555)1, 2, 9 Ly T.B.N.... Zschocke J. (Hum. Mutat. 2003)
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    6. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PubMed id 18978678)1, 4 Vieira A.R....Marazita M.L. (Genet. Med. 2008)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. AU-rich RNA-binding induces changes in the quaternary structure of AUH. (PubMed id 18831052)1, 9 Kurimoto K....Yokoyama S. (Proteins 2009)
    9. Characterisation and mitochondrial localisation of AUH, an AU-specific RNA-binding enoyl-CoA hydratase. (PubMed id 10072761)1, 9 Brennan L.E....Moroni C. (Gene 1999)
    10. Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism. (PubMed id 16640564)1, 9 Mack M....Zschocke J. (FEBS J. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 549 HGNC: 890 AceView: AUH Ensembl:ENSG00000148090 euGenes: HUgn549
    ECgene: AUH Kegg: 549 H-InvDB: AUH

    (According to HUGE)
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      --

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

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

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



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