Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AUH Gene

Aliases for AUH Gene

  • AU RNA Binding Methylglutaconyl-CoA Hydratase 2 3 5
  • 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 RNA Binding Protein/Enoyl-CoA Hydratase 2
  • 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 Methylglutaconyl-CoA Hydratase) is a Protein Coding gene. Diseases associated with AUH include 3-Methylglutaconic Aciduria, Type I and 3-Methylglutaconic Aciduria. Among its related pathways are Metabolism and Valine, leucine and isoleucine degradation. GO annotations related to this gene include RNA binding and enoyl-CoA hydratase activity. An important paralog of this gene is ECHDC2.

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.

Additional gene information for AUH Gene

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

Genomics for AUH Gene

Regulatory Elements for AUH Gene

Enhancers for AUH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H091394 1.5 Ensembl ENCODE dbSUPER 11.7 -34.0 -34043 2.3 PKNOX1 FOXA2 ATF1 ARID4B SIN3A DMAP1 YY1 SLC30A9 FOS RUNX3 NFIL3 LOC105376146 AUH LINC00484
GH09H091160 1.5 Ensembl ENCODE dbSUPER 10.7 +197.9 197888 6.4 PKNOX1 ATF1 ARNT BRCA1 TCF12 ZNF766 CBX5 GATA2 ATF7 FOS LINC00484 LOC100507103 AUH ENSG00000237422
GH09H091427 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -66.7 -66667 2 CTCF POLR2A JUN FOS ZNF644 AUH MTND4LP7 CENPP LOC105376146 PIR33956
GH09H091432 1.3 Ensembl ENCODE dbSUPER 10.7 -71.3 -71262 0.8 ELF3 CTCF FOXA2 INSM2 RAD21 SMC3 FOSL2 FOS MAFK MIXL1 AUH LOC105376146 PIR33956
GH09H091116 1.3 FANTOM5 ENCODE dbSUPER 10.6 +243.1 243074 4.1 JUN MAX RAD21 GATA3 POLR2A RCOR1 FOS L3MBTL2 BHLHE40 USF2 AUH ENSG00000229694 LINC00484
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AUH on UCSC Golden Path with GeneCards custom track

Promoters for AUH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000237746 439 1401 ATF1 ARNT ARID4B SIN3A FEZF1 YY1 ZNF143 ZNF207 ATF7 YY2

Genomic Locations for AUH Gene

Genomic Locations for AUH Gene
148,125 bases
Minus strand

Genomic View for AUH Gene

Genes around AUH on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for AUH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AUH Gene

Domains & Families for AUH Gene

Gene Families for AUH Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted secreted proteins

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

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

Phenotypes From GWAS Catalog 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 IEA --
GO:0004300 enoyl-CoA hydratase activity IDA 7892223
GO:0004490 methylglutaconyl-CoA hydratase activity EXP 12434311
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with AUH: view
genes like me logo Genes that share phenotypes with AUH: view

Human Phenotype Ontology for AUH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for AUH Gene

miRTarBase miRNAs that target AUH

Inhibitory RNA Products

Clone Products

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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AUH gene
Compartment Confidence
mitochondrion 5
extracellular 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for AUH Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AUH Gene

Pathways & Interactions for AUH Gene

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

Pathways by source for AUH Gene

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.

Gene Ontology (GO) - Biological Process for AUH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006552 leucine catabolic process IEA --
GO:0006635 fatty acid beta-oxidation IBA --
GO:0008152 metabolic process IEA --
GO:0009083 branched-chain amino acid catabolic 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

(3) Drugs for AUH Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0

(5) 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
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for AUH Gene

Protein tissue co-expression partners for AUH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AUH Gene:


SOURCE GeneReport for Unigene cluster for AUH Gene:


Evidence on tissue expression from TISSUES for AUH Gene

  • Liver(4.2)
  • Nervous system(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AUH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • urinary
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • mouth
  • tongue
  • heart
  • adrenal gland
  • prostate
  • urinary bladder
  • arm
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with AUH: view

Primer 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
(Pan troglodytes)
Mammalia AUH 33 34
  • 99.41 (n)
(Canis familiaris)
Mammalia AUH 33
  • 89.58 (n)
(Rattus norvegicus)
Mammalia Auh 33
  • 85.79 (n)
(Bos Taurus)
Mammalia AUH 34
  • 85 (a)
(Mus musculus)
Mammalia Auh 33 16 34
  • 84.75 (n)
(Monodelphis domestica)
Mammalia AUH 34
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 28 (a)
(Gallus gallus)
Aves AUH 33 34
  • 77.2 (n)
(Anolis carolinensis)
Reptilia AUH 34
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia auh 33
  • 68.51 (n)
Str.17781 33
(Danio rerio)
Actinopterygii auh 33 34
  • 67.76 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2935 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011354 33
  • 58.03 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8778 35 33 34
  • 56.19 (n)
(Caenorhabditis elegans)
Secernentea ech-5 34 33
  • 51.99 (n)
F56B3.5 35
  • 48 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G16800 33
  • 51.74 (n)
(Oryza sativa)
Liliopsida Os02g0654100 33
  • 54.02 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1444 34
  • 57 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13481 33
Species where no ortholog for AUH was found in the sources mined by GeneCards:
  • 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
rs769894315 3-methylglutaconic aciduria 1 (MGA1) [MIM:250950] 91,220,929(+) CTCGC(A/G)CAGAG nc-transcript-variant, reference, missense
rs121434636 Pathogenic 91,297,993(-) ATATA(C/T)GAGTA nc-transcript-variant, reference, stop-gained
rs387906755 Pathogenic 91,298,023(-) GTGGT(A/G)GTCTT nc-transcript-variant, reference, missense
rs387906756 Pathogenic 91,296,026(-) TCCTG(A/G)TGGAG nc-transcript-variant, reference, missense
rs387906757 Pathogenic 91,214,377(-) AAGAG(A/T)AAAGG nc-transcript-variant, reference, stop-gained

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

Variant ID Type Subtype PubMed ID
nsv523129 CNV loss 19592680
nsv1152839 CNV duplication 26484159
esv3621060 CNV loss 21293372
esv3621058 CNV loss 21293372
esv3621057 CNV loss 21293372
esv3621048 CNV gain 21293372
esv3337917 CNV insertion 20981092
esv3303216 CNV mobile element insertion 20981092
esv2676899 CNV deletion 23128226
esv2657277 CNV deletion 23128226
esv2491583 CNV deletion 19546169
esv21900 CNV loss 19812545

Variation tolerance for AUH Gene

Residual Variation Intolerance Score: 63.1% 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

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for AUH Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
3-methylglutaconic aciduria, type i
  • 3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria
3-methylglutaconic aciduria, type v
  • 3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria, type iv
  • 3-methylglutaconic aciduria type 4
leigh-like syndrome
- elite association - COSMIC cancer census association via MalaCards
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 (Proceedings of the National Academy of Sciences of the United States of America 1995) 2 3 4 22 60
  2. Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. (PMID: 12655555) Ly TB … Zschocke J (Human mutation 2003) 3 4 22 60
  3. 3-Methylglutaconic aciduria type I is caused by mutations in AUH. (PMID: 12434311) IJlst L … Wanders RJ (American journal of human genetics 2002) 3 4 22 60
  4. Crystal structure of human AUH protein, a single-stranded RNA binding homolog of enoyl-CoA hydratase. (PMID: 11738050) Kurimoto K … Yokoyama S (Structure (London, England : 1993) 2001) 3 4 22 60
  5. A bifunctional protein regulates mitochondrial protein synthesis. (PMID: 24598254) Richman TR … Filipovska A (Nucleic acids research 2014) 2 3 60

Products for AUH Gene

Sources for AUH Gene

Loading form....