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Aliases for AUH Gene

Aliases for AUH Gene

  • AU RNA Binding Protein/Enoyl-CoA Hydratase 2 3
  • AU RNA-Binding Protein/Enoyl-Coenzyme A Hydratase 2
  • AU RNA Binding Protein/Enoyl-Coenzyme A Hydratase 2
  • AU-Specific RNA-Binding Enoyl-CoA Hydratase 4
  • AU-Binding Protein/Enoyl-CoA Hydratase 4
  • EC 4

External Ids for AUH Gene

Previous GeneCards Identifiers for AUH Gene

  • GC09M084815
  • GC09M085704
  • GC09M087275
  • GC09M089317
  • GC09M091055
  • GC09M093015
  • GC09M093976
  • GC09M063656

Summaries for AUH Gene

Entrez Gene Summary for AUH Gene

  • This gene encodes bifunctional mitochondrial protein that has both RNA-binding and hydratase activities. The encoded protein is a methylglutaconyl-CoA hydratase that catalyzes the hydration of 3-methylglutaconyl-CoA to 3-hydroxy-3-methyl-glutaryl-CoA, a critical step in the leucine degradation pathway. This protein also binds AU-rich elements (AREs) found in the 3' UTRs of rapidly decaying mRNAs including c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. This protein is localizes to the mitochondrial matrix and the inner mitochondrial membrane and may be involved in mitochondrial protein synthesis. Mutations in this gene are the cause of 3-methylglutaconic aciduria, type I. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

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 tracheomalacia. Among its related pathways are Metabolism and CDK-mediated phosphorylation and removal of Cdc6. GO annotations related to this gene include RNA binding and enoyl-CoA hydratase activity. An important paralog of this gene is CDY1B.

UniProtKB/Swiss-Prot for AUH Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AUH Gene

Genomics for AUH Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for AUH Gene

91,213,815 bp from pter
91,361,939 bp from pter
148,125 bases
Minus strand

Genomic View for AUH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AUH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AUH Gene

Proteins for AUH Gene

  • Protein details for AUH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Methylglutaconyl-CoA hydratase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B1ALV7
    • B1ALV8
    • Q8WUE4

    Protein attributes for AUH Gene

    339 amino acids
    Molecular mass:
    35609 Da
    Quaternary structure:
    • Homohexamer

    Three dimensional structures from OCA and Proteopedia for AUH Gene

    Alternative splice isoforms for AUH Gene


neXtProt entry for AUH Gene

Proteomics data for AUH Gene at MOPED

Post-translational modifications for AUH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AUH Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AUH Gene

Domains & Families for AUH Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the enoyl-CoA hydratase/isomerase family.
  • Belongs to the enoyl-CoA hydratase/isomerase family.
genes like me logo Genes that share domains with AUH: view

No data available for Gene Families for AUH Gene

Function for AUH Gene

Molecular function for AUH Gene

UniProtKB/Swiss-Prot CatalyticActivity:
(S)-3-hydroxy-3-methylglutaryl-CoA = trans-3-methylglutaconyl-CoA + H(2)O
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for AUH Gene

Gene Ontology (GO) - Molecular Function for AUH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003730 mRNA 3-UTR binding IDA 7892223
GO:0003824 catalytic activity --
GO:0004300 enoyl-CoA hydratase activity IDA 7892223
GO:0004490 methylglutaconyl-CoA hydratase activity EXP --
genes like me logo Genes that share ontologies with AUH: view

Phenotypes for AUH Gene

GenomeRNAi human phenotypes for AUH:
genes like me logo Genes that share phenotypes with AUH: view

Animal Model Products

miRNA for AUH Gene

miRTarBase miRNAs that target AUH

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for AUH Gene

Localization for AUH Gene

Subcellular locations from UniProtKB/Swiss-Prot for AUH Gene


Subcellular locations from

Jensen Localization Image for AUH Gene COMPARTMENTS Subcellular localization image for AUH gene
Compartment Confidence
mitochondrion 4

Gene Ontology (GO) - Cellular Components for AUH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with AUH: view

Pathways & Interactions for AUH Gene

genes like me logo Genes that share pathways with AUH: view

Pathways by source for AUH Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot Q13825-AUHM_HUMAN

  • Pathway: Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 3/3

Interacting Proteins for AUH Gene

Gene Ontology (GO) - Biological Process for AUH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006552 leucine catabolic process IEA --
GO:0008152 metabolic process --
GO:0009083 branched-chain amino acid catabolic process TAS --
GO:0034641 cellular nitrogen compound metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with AUH: view

No data available for SIGNOR curated interactions for AUH Gene

Drugs & Compounds for AUH Gene

(2) Drugs for AUH Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
beta-Hydroxy-beta-methylbutyrate Nutra 13
leucine Nutra 93

(6) Additional Compounds for AUH Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (S)-3-hydroxy-3-methylglutaryl-CoA
  • (S)-3-hydroxy-3-methylglutaryl-Coenzyme A
  • 3-Hydroxy-3-methyl-Glutaryl-CoA
  • 3-Hydroxy-3-methyl-Glutaryl-Coenzyme A
  • 3-Hydroxy-3-methylglutaryl-CoA
  • 3-Methylglutaconyl-CoA
  • 3-Methylglutaconyl-Coenzyme A
  • trans-3-Methylglutaconyl-CoA
  • trans-3-Methylglutaconyl-Coenzyme A
Ceramide (d18:1/16:0)
  • (2S,3R,4E)-2-acylamino-1,3-octadec-4-enediol
  • (2S,3R,4E)-2-acylaminooctadec-4-ene-1,3-diol
  • Cer
  • Ceramide
  • N-Acylsphingosine
  • Dihydrogen oxide
  • Steam
  • 3-Methylbut-2-enoyl-CoA
  • 3-Methylbut-2-enoyl-Coenzyme A
  • 3-Methylcrotonoyl-CoA
  • 3-Methylcrotonoyl-Coenzyme A
  • 3-Methylcrotonyl-CoA
genes like me logo Genes that share compounds with AUH: view

Transcripts for AUH Gene

Unigene Clusters for AUH Gene

AU RNA binding protein/enoyl-CoA hydratase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AUH Gene

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

Relevant External Links for AUH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for AUH Gene

mRNA expression in normal human tissues for AUH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AUH Gene

This gene is overexpressed in Salivary gland (11.8), Brain (10.5), Frontal cortex (7.3), and Skin (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for AUH Gene

SOURCE GeneReport for Unigene cluster for AUH Gene Hs.175905

genes like me logo Genes that share expression patterns with AUH: view

Protein tissue co-expression partners for AUH Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for AUH Gene

Orthologs for AUH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AUH Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia AUH 35
  • 89.58 (n)
  • 90.27 (a)
(Mus musculus)
Mammalia Auh 35
  • 84.75 (n)
  • 94.12 (a)
Auh 16
Auh 36
  • 94 (a)
(Pan troglodytes)
Mammalia AUH 35
  • 99.41 (n)
  • 99.12 (a)
AUH 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Auh 35
  • 85.79 (n)
  • 98.01 (a)
(Bos Taurus)
Mammalia AUH 36
  • 85 (a)
(Monodelphis domestica)
Mammalia AUH 36
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 28 (a)
(Gallus gallus)
Aves AUH 35
  • 77.2 (n)
  • 81.61 (a)
AUH 36
  • 77 (a)
(Anolis carolinensis)
Reptilia AUH 36
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia auh 35
  • 68.51 (n)
  • 71.75 (a)
Str.17781 35
(Danio rerio)
Actinopterygii auh 35
  • 67.76 (n)
  • 72 (a)
auh 36
  • 64 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2935 35
fruit fly
(Drosophila melanogaster)
Insecta CG8778 37
  • 61 (a)
CG8778 35
  • 56.19 (n)
  • 59.09 (a)
CG8778 36
  • 54 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011354 35
  • 58.03 (n)
  • 59.59 (a)
(Caenorhabditis elegans)
Secernentea F56B3.5 37
  • 48 (a)
ech-5 35
  • 51.99 (n)
  • 50.75 (a)
ech-5 36
  • 48 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G16800 35
  • 51.74 (n)
  • 46.21 (a)
(Oryza sativa)
Liliopsida Os02g0654100 35
  • 54.02 (n)
  • 47.59 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13481 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1444 36
  • 57 (a)
Species with no ortholog for AUH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AUH Gene

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

Paralogs for AUH Gene

Paralogs for AUH Gene

(2) SIMAP similar genes for AUH Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with AUH: view

Variants for AUH Gene

Sequence variations from dbSNP and Humsavar for AUH Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs177120 -- 91,313,567(-) ccacc(A/G)cgccc intron-variant
rs298717 -- 91,332,647(+) agctt(C/T)tggcc intron-variant
rs298718 -- 91,319,392(-) gccct(C/T)tccaa intron-variant
rs298719 -- 91,312,249(+) ACGGT(G/T)GCCAA intron-variant
rs298720 -- 91,309,831(-) tctta(A/G)ttgtt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AUH Gene

Variant ID Type Subtype PubMed ID
nsv893570 CNV Loss 21882294
esv2657277 CNV Deletion 23128226
esv21900 CNV Loss 19812545
nsv523129 CNV Loss 19592680
esv2491583 CNV Deletion 19546169
esv267496 CNV Insertion 20981092
esv2676899 CNV Deletion 23128226
nsv893571 CNV Gain 21882294

Variation tolerance for AUH Gene

Residual Variation Intolerance Score: 63.07% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.34; 26.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AUH Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AUH Gene

Disorders for AUH Gene

MalaCards: The human disease database

(5) MalaCards diseases for AUH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
3-methylglutaconic aciduria, type i
  • 3 methylglutaconic aciduria type i
  • congenital tracheomalacia
3-methylglutaconic aciduria
leigh-like syndrome
tracheal disease
  • disorder of trachea
- elite association
Search AUH in MalaCards View complete list of genes associated with diseases


  • 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). {ECO:0000269 PubMed:12655555}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AUH

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with AUH: view

No data available for Genatlas for AUH Gene

Publications for AUH Gene

  1. AUH, a gene encoding an AU-specific RNA binding protein with intrinsic enoyl-CoA hydratase activity. (PMID: 7892223) Nakagawa J. … Moroni C. (Proc. Natl. Acad. Sci. U.S.A. 1995) 2 23 67
  2. AU-rich RNA-binding induces changes in the quaternary structure of AUH. (PMID: 18831052) Kurimoto K. … Yokoyama S. (Proteins 2009) 23 67
  3. Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. (PMID: 16527507) Wortmann S. … Morava E. (Mol. Genet. Metab. 2006) 23 67
  4. Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism. (PMID: 16640564) Mack M. … Zschocke J. (FEBS J. 2006) 23 67
  5. Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. (PMID: 16736096) Di Rosa G. … Dionisi-Vici C. (J. Inherit. Metab. Dis. 2006) 23 67

Products for AUH Gene

Sources for AUH Gene

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