AUH Gene (Protein Coding)

AU RNA Binding Methylglutaconyl-CoA Hydratase

GC09M091213
GIFtS:
43
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 rapi... See more...

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 3
  • Methylglutaconyl-CoA Hydratase, Mitochondrial 3 4
  • AU-Specific RNA-Binding Enoyl-CoA Hydratase 3 4
  • AU RNA Binding Protein/Enoyl-CoA Hydratase 2 3
  • AU-Binding Protein/Enoyl-CoA Hydratase 3 4
  • Itaconyl-CoA Hydratase 3 4
  • AU RNA Binding Protein/Enoyl-Coenzyme A Hydratase 2
  • 3-Methylglutaconyl-CoA Hydratase 3
  • EC 4.2.1.18 4
  • EC 4.2.1.56 4
  • AUH 5

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 Viral mRNA Translation and Metabolism. Gene Ontology (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 Summary for AUH Gene

  • Catalyzes the conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA (PubMed:11738050, PubMed:12434311, PubMed:12655555). Also has itaconyl-CoA hydratase activity by converting itaconyl-CoA into citramalyl-CoA in the C5-dicarboxylate catabolism pathway (PubMed:29056341). The C5-dicarboxylate catabolism pathway is required to detoxify itaconate, a vitamin B12-poisoning metabolite (PubMed:29056341). Has very low enoyl-CoA hydratase activity (PubMed:7892223). Was originally identified as RNA-binding protein that binds in vitro to clustered 5'-AUUUA-3' motifs (PubMed:7892223).

Additional gene information for AUH Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AUH Gene

Genomics for AUH Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for AUH Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH09J091359 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.7 679 2.6 PRDM10 ZNF692 POLR2A BACH1 LARP7 PRDM1 ZNF143 RBFOX2 REST ZNF501 AUH HSALNG0072718 LINC00475 NOL8 IARS1 MTND4P15 LINC00484 ENSG00000230537 lnc-NFIL3-2 SYK
GH09J091160 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 +197.9 197934 6.5 CREB1 LEF1 IKZF1 ZNF692 JUND PHF21A PKNOX1 REST ZNF24 DPF2 ENSG00000237422 LOC100507103 LINC00484 ENSG00000230537 AUH ENSG00000229694 SYK
GH09J091116 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 +243.1 243103 4.1 TEAD4 FOXA1 POLR2A MGA JUND CEBPB JUN USF1 RCOR1 FOS ENSG00000229694 LINC00484 AUH ENSG00000237422 LOC100507103 ENSG00000230537 SYK
GH09J091395 Enhancer 1.1 ENCODE dbSUPER 11.8 -34.3 -34274 1.8 CEBPG GATAD2A SOX13 NFKBIZ RCOR2 JUND IRF2 IKZF2 SP1 CEBPA NFIL3 ENSG00000233081 AUH RF00017-7704
GH09J091394 Enhancer 1.1 ENCODE dbSUPER 11.8 -33.3 -33255 0.2 CEBPG GATAD2A TFE3 SOX13 NFKBIZ RCOR2 RXRB IRF2 SP1 CEBPA AUH NFIL3 ENSG00000233081 RF00017-7704
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AUH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AUH

Top Transcription factor binding sites by QIAGEN in the AUH gene promoter:
  • AML1a
  • FOXJ2
  • FOXJ2 (long isoform)
  • ISGF-3
  • NF-kappaB
  • NF-kappaB1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RelA

Genomic Locations for AUH Gene

Genomic Locations for AUH Gene
chr9:91,213,815-91,361,969
(GRCh38/hg38)
Size:
148,155 bases
Orientation:
Minus strand
chr9:93,976,097-94,124,206
(GRCh37/hg19)
Size:
148,110 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 Structure • Gene Density

RefSeq DNA sequence for AUH Gene

Proteins for AUH Gene

Products:

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  3. Assay

  • 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

Protein Expression for AUH Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

Gene Families for AUH Gene

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

Protein Domains for AUH Gene

InterPro:
Blocks:
  • Enoyl-CoA hydratase/isomerase
ProtoNet:

Suggested Antigen Peptide Sequences for AUH Gene

GenScript: Design optimal peptide antigens:
  • AU-specific RNA-binding enoyl-CoA hydratase (AUHM_HUMAN)
  • cDNA FLJ60196, highly similar to Methylglutaconyl-CoA hydratase, mitochondrial (EC 4.2.1.18) (B4DYI6_HUMAN)

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

Function for AUH Gene

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  2. CRISPR
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  6. Cell Line

Molecular function for AUH Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA (PubMed:11738050, PubMed:12434311, PubMed:12655555). Also has itaconyl-CoA hydratase activity by converting itaconyl-CoA into citramalyl-CoA in the C5-dicarboxylate catabolism pathway (PubMed:29056341). The C5-dicarboxylate catabolism pathway is required to detoxify itaconate, a vitamin B12-poisoning metabolite (PubMed:29056341). Has very low enoyl-CoA hydratase activity (PubMed:7892223). Was originally identified as RNA-binding protein that binds in vitro to clustered 5'-AUUUA-3' motifs (PubMed:7892223).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(3S)-hydroxy-3-methylglutaryl-CoA = H2O + trans-3-methylglutaconyl-CoA; Xref=Rhea:RHEA:21536, ChEBI:CHEBI:15377, ChEBI:CHEBI:43074, ChEBI:CHEBI:57346; EC=4.2.1.18; Evidence={ECO:0000269|PubMed:12434311};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=citramalyl-CoA = H2O + itaconyl-CoA; Xref=Rhea:RHEA:13785, ChEBI:CHEBI:15377, ChEBI:CHEBI:57320, ChEBI:CHEBI:57381; EC=4.2.1.56; Evidence={ECO:0000303|PubMed:29056341};.

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:0003723 RNA binding IEA --
GO:0003730 mRNA 3'-UTR binding IDA 7892223
GO:0003824 catalytic activity IEA --
GO:0004300 enoyl-CoA hydratase activity IBA,IDA 7892223
GO:0004490 methylglutaconyl-CoA hydratase 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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

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 2
nucleus 2
cytosol 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 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

2 BioSystems pathways 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 21873635
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

Products:

  1. Drug

(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-coenzyme A
 1553-55-5
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
  • C16 Cer
  • C16 Ceramide
  • C16-0(Palmitoyl)ceramide
genes like me logo Genes that share compounds with AUH: view

Transcripts for AUH Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for AUH Gene

5 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AUH

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

Expression for AUH Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AUH Gene

mRNA expression in normal human tissues for AUH Gene
mRNA expression by BioGPS for AUH GenemRNA expression by GTEx 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, MaxQB, and MOPED for AUH Gene



Protein tissue co-expression partners for AUH Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AUH

SOURCE GeneReport for Unigene cluster for AUH Gene:

Hs.175905

Evidence on tissue expression from TISSUES for AUH Gene

  • Liver(4.4)
  • Nervous system(2.9)
  • Kidney(2.4)
  • Heart(2.2)
  • Muscle(2.1)

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
Regions:
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

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 30 31
  • 99.41 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia AUH 30
  • 89.58 (n)
Rat
(Rattus norvegicus)
 Mammalia Auh 30
  • 85.79 (n)
Cow
(Bos Taurus)
 Mammalia AUH 31
  • 85 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Auh 30 17 31
  • 84.75 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia AUH 31
  • 76 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 28 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves AUH 30 31
  • 77.2 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia AUH 31
  • 73 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia auh 30
  • 68.51 (n)
Str.17781 30
Zebrafish
(Danio rerio)
 Actinopterygii auh 30 31
  • 67.76 (n)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.2935 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011354 30
  • 58.03 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG8778 30 31 32
  • 56.19 (n)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea ech-5 30 31
  • 51.99 (n)
 OneToMany
F56B3.5 32
  • 48 (a)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT4G16800 30
  • 51.74 (n)
Rice
(Oryza sativa)
 Liliopsida Os02g0654100 30
  • 54.02 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.1444 31
  • 57 (a)
 OneToOne
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.13481 30
Species where no ortholog for AUH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for AUH: view image

Paralogs for AUH Gene

Paralogs for AUH Gene

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

  • AUHM_HUMAN
  • B4DYI6_HUMAN
genes like me logo Genes that share paralogs with AUH: view

Variants for AUH Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AUH Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
640614 Uncertain Significance: 3-Methylglutaconic aciduria type 1 91,220,935(-) A/G MISSENSE_VARIANT
642421 Likely Pathogenic: 3-Methylglutaconic aciduria type 1 91,296,079(-) T/C SPLICE_ACCEPTOR_VARIANT
669693 Benign: not provided 91,297,749(-) G/A INTRON_VARIANT
669694 Benign: not provided 91,220,617(-) G/A INTRON_VARIANT
672507 Benign: not provided 91,325,120(-) A/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for AUH Gene

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)

Additional Variant Information for AUH Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for AUH Gene

MalaCards: The human disease database

(12) MalaCards diseases for AUH Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
3-methylglutaconic aciduria, type i
  • mgca1
3-methylglutaconic aciduria
  • 3-methyl glutaconic aciduria
neurometabolic disease
pyosalpinx
  • pyosalpingitis
lactic acidosis
  • acidosis lactic
- 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 (MGCA1) [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. MGCA1 can be distinguished from other forms of MGCA 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 MGCA forms). {ECO:0000269 PubMed:12655555}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AUH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23
  2. Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. (PMID: 12655555) Ly TB … Zschocke J (Human mutation 2003) 3 4 23
  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 23
  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 23
  5. A bifunctional protein regulates mitochondrial protein synthesis. (PMID: 24598254) Richman TR … Filipovska A (Nucleic acids research 2014) 2 3

ExternalLinks

View latest publications for AUH gene in Mastermind

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