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 4.2.1.18 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 Valine, leucine and isoleucine degradation and Viral mRNA Translation. 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.

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
GH09G091394 1.6 Ensembl ENCODE dbSUPER 11.7 -34.0 -34043 2.3 PKNOX1 FOXA2 CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 FOS NFIL3 LOC105376146 AUH LINC00484
GH09G091160 1.5 Ensembl ENCODE dbSUPER 10.7 +197.9 197888 6.4 PKNOX1 ATF1 CREB3L1 ARNT BRCA1 TCF12 ZNF766 CBX5 GATA2 FOS LINC00484 LOC100507103 LINC00475 AUH ENSG00000237422
GH09G091427 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -66.7 -66667 2.0 CTCF GATA2 JUN FOS ZNF644 TCF7L2 AUH MTND4LP7 CENPP LOC105376146 PIR33956
GH09G091432 1.3 Ensembl ENCODE dbSUPER 10.7 -71.3 -71262 0.8 ELF3 CTCF FOXA2 INSM2 RAD21 ZNF507 GATA3 CBX5 GATA2 SMC3 AUH LOC105376146 PIR33956
GH09G091116 1.3 FANTOM5 ENCODE dbSUPER 10.6 +243.1 243074 4.1 JUN TEAD4 MAX RAD21 RCOR1 FOS NFE2L2 L3MBTL2 RNF2 BHLHE40 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 ZNF48 YY1 ZNF143 ZNF207 YY2

Genomic Location for AUH Gene

Chromosome:
9
Start:
91,213,815 bp from pter
End:
91,361,939 bp from pter
Size:
148,125 bases
Orientation:
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:
    Q13825-AUHM_HUMAN
    Recommended name:
    Methylglutaconyl-CoA hydratase, mitochondrial
    Protein Accession:
    Q13825
    Secondary Accessions:
    • B1ALV7
    • B1ALV8
    • Q8WUE4

    Protein attributes for AUH Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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

Graphical View of Domain Structure for InterPro Entry

Q13825

UniProtKB/Swiss-Prot:

AUHM_HUMAN :
  • Belongs to the enoyl-CoA hydratase/isomerase family.
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 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

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

Mitochondrion.

Subcellular locations from

COMPARTMENTS
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

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
3-hydroxy-3-methylglutaryl-coa
  • (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
1553-55-5
3-methylglutaconyl-coa
  • 3-Methylglutaconyl-CoA
  • 3-Methylglutaconyl-Coenzyme A
  • trans-3-Methylglutaconyl-CoA
  • trans-3-Methylglutaconyl-Coenzyme A
6247-73-0
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
104404-17-3
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

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: -
SP4:

Relevant External Links for AUH Gene

GeneLoc Exon Structure for
AUH
ECgene alternative splicing isoforms for
AUH

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:

AUH

SOURCE GeneReport for Unigene cluster for AUH Gene:

Hs.175905

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
Systems:
  • cardiovascular
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • mouth
  • tongue
Thorax:
  • heart
Abdomen:
  • adrenal gland
Pelvis:
  • prostate
  • urinary bladder
Limb:
  • arm
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia AUH 34 35
  • 99.41 (n)
dog
(Canis familiaris)
Mammalia AUH 34
  • 89.58 (n)
rat
(Rattus norvegicus)
Mammalia Auh 34
  • 85.79 (n)
cow
(Bos Taurus)
Mammalia AUH 35
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Auh 34 16 35
  • 84.75 (n)
oppossum
(Monodelphis domestica)
Mammalia AUH 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 28 (a)
ManyToMany
chicken
(Gallus gallus)
Aves AUH 34 35
  • 77.2 (n)
lizard
(Anolis carolinensis)
Reptilia AUH 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia auh 34
  • 68.51 (n)
Str.17781 34
zebrafish
(Danio rerio)
Actinopterygii auh 34 35
  • 67.76 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2935 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011354 34
  • 58.03 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8778 36 34 35
  • 56.19 (n)
worm
(Caenorhabditis elegans)
Secernentea ech-5 34 35
  • 51.99 (n)
F56B3.5 36
  • 48 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G16800 34
  • 51.74 (n)
rice
(Oryza sativa)
Liliopsida Os02g0654100 34
  • 54.02 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1444 35
  • 57 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13481 34
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

ENSEMBL:
Gene Tree for AUH (if available)
TreeFam:
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
esv21900 CNV loss 19812545
esv2491583 CNV deletion 19546169
esv2657277 CNV deletion 23128226
esv2676899 CNV deletion 23128226
esv3303216 CNV mobile element insertion 20981092
esv3337917 CNV insertion 20981092
esv3621048 CNV gain 21293372
esv3621057 CNV loss 21293372
esv3621058 CNV loss 21293372
esv3621060 CNV loss 21293372
nsv1152839 CNV duplication 26484159
nsv523129 CNV loss 19592680

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)
AUH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AUH

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

Disorders for AUH Gene

MalaCards: The human disease database

(9) 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 1
3-methylglutaconic aciduria
tracheomalacia
  • congenital tracheomalacia
leigh-like syndrome
3-methylglutaconic aciduria, type v
  • 3-methylglutaconic aciduria type 5
- elite association - COSMIC cancer census association via MalaCards
Search AUH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AUHM_HUMAN
  • 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)
AUH
Human Genome Epidemiology (HuGE) Navigator
AUH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AUH
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 3 4 22 64
  2. Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. (PMID: 12655555) Ly T.B.N. … Zschocke J. (Hum. Mutat. 2003) 3 4 22 64
  3. 3-methylglutaconic aciduria type I is caused by mutations in AUH. (PMID: 12434311) Ijlst L. … Wanders R.J.A. (Am. J. Hum. Genet. 2002) 3 4 22 64
  4. Crystal structure of human AUH protein, a single-stranded RNA binding homolog of enoyl-CoA hydratase. (PMID: 11738050) Kurimoto K. … Yokoyama S. (Structure 2001) 3 4 22 64
  5. A bifunctional protein regulates mitochondrial protein synthesis. (PMID: 24598254) Richman T.R. … Filipovska A. (Nucleic Acids Res. 2014) 2 3 64

Products for AUH Gene

Sources for AUH Gene

Content
Loading form....