AUH AU RNA binding protein/enoyl-CoA hydratase [Homo sapiens (human)] - Gene

Summary

Go to the top of the page Help

Official Symbol: AUHprovided by HGNC
Official Full Name: AU RNA binding protein/enoyl-CoA hydrataseprovided by HGNC
Primary source: HGNC:890
See related: Ensembl:ENSG00000148090; HPRD:08987; MIM:600529; Vega:OTTHUMG00000020207
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: 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]

Genomic context

Go to the top of the page Help

Location :: 9q22.31

Sequence :: Chromosome: 9; NC_000009.11 (93976097..94124206, complement)

See AUH in Epigenomics, MapViewer

Chromosome 9 - NC_000009.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel deletion of exons 1-3 within the AUH gene.
Title: Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion.
The AUH trimer dimerizes upon binding to one molecule of a long RNA containing 24 repeats of the AUUU motif, (AUUU)(24)A.
Title: AU-rich RNA-binding induces changes in the quaternary structure of AUH.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Human 3-methylglutaconyl-CoA hydratase is identical with RNA-binding protein (AUH); molecular analyses of MGA1 patients show homozygosity or compound heterozygosity for mutations in AUH.
Title: Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.
3-Methylglutaconic aciduria type I is caused by mutations in AUH
Title: 3-Methylglutaconic aciduria type I is caused by mutations in AUH.
Mutations in the AUH gene are linked to metabolic disease 3-methylglutaconic aciduria type I (MGA1).
Title: Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism.
Mutation analysis in the AUH gene revealed homozygosity for a novel splice site mutation IVS9-2A>G. We conclude that MGA1 may be associated with fever-associated seizures even in children without delayed psychomotor development.
Title: 3-methylglutaconic aciduria type I in a boy with fever-associated seizures.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

A genome-wide association study for diabetic nephropathy genes in African Americans.

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Source	Pubs	Description
Q13825	Q13825	AUH	HPRD	PubMed
BioGRID:107030	BioGRID:107030	AUH	BioGRID	PubMed	Co-crystal Structure
BioGRID:107030	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

Go to the top of the page Help

Branched-chain amino acid catabolism, organism-specific biosystem (from REACTOME)
Branched-chain amino acid catabolism, organism-specific biosystemThe branched-chain amino acids, leucine, isoleucine, and valine, are all essential amino acids (i.e., ones required in the diet). They are major constituents of muscle protein. The breakdown of these...
Leucine degradation, leucine => acetoacetate + acetyl-CoA, organism-specific biosystem (from KEGG)
Leucine degradation, leucine => acetoacetate + acetyl-CoA, organism-specific biosystemPathway module; Nucleotide and amino acid metabolism; Branched-chain amino acid metabolism
Leucine degradation, leucine => acetoacetate + acetyl-CoA, conserved biosystem (from KEGG)
Leucine degradation, leucine => acetoacetate + acetyl-CoA, conserved biosystemPathway module; Nucleotide and amino acid metabolism; Branched-chain amino acid metabolism
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
Valine, leucine and isoleucine degradation, organism-specific biosystem (from KEGG)
Valine, leucine and isoleucine degradation, organism-specific biosystem
Valine, leucine and isoleucine degradation
Valine, leucine and isoleucine degradation, conserved biosystem (from KEGG)
Valine, leucine and isoleucine degradation, conserved biosystem
Valine, leucine and isoleucine degradation
leucine degradation I, organism-specific biosystem (from BIOCYC)
leucine degradation I, organism-specific biosystem: LEU is one of the three main branched chain amino acids (BCAAs), along with : ILE and :VAL. The catabolic pathways of the BCAAs can be divided into two sequential series of reactions, referred to a...
leucine degradation I, conserved biosystem (from BIOCYC)
leucine degradation I, conserved biosystem|FRAME: LEU| is one of the three main branched chain amino acids (BCAAs), along with |FRAME: ILE| and |FRAME:VAL|. The catabolic pathways of the BCAAs can be divided into two sequential series of rea...

General gene information

Go to the top of the page Help

Markers

D10S275 (e-PCR)
- UniSTS:147992

SHGC-31547 (e-PCR)
- UniSTS:9515

RH123078 (e-PCR)
- UniSTS:135471

D9S2075 (e-PCR)
- UniSTS:72768

SHGC-79213 (e-PCR)
- UniSTS:102750

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-80730 (e-PCR)
- UniSTS:102264

D9S787 (e-PCR)
- UniSTS:3995

RH120004 (e-PCR)
- UniSTS:133328

Genotypes

See AUH SNP Geneview Report
See AUH SNP Genotype Report
See AUH SNP Variation Viewer Report

Homology

Homologs of the AUH gene: The AUH gene is conserved in chimpanzee, Rhesus monkey, dog, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, M.oryzae, N.crassa, A.thaliana, and rice.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enoyl-CoA hydratase activity	IDA Inferred from Direct Assay more info	PubMed
mRNA 3'-UTR binding	IDA Inferred from Direct Assay more info	PubMed
methylglutaconyl-CoA hydratase activity	EXP Inferred from Experiment more info

Process	Evidence Code	Pubs
branched-chain amino acid catabolic process	TAS Traceable Author Statement more info
cellular nitrogen compound metabolic process	TAS Traceable Author Statement more info
leucine catabolic process	IEA Inferred from Electronic Annotation more info
mRNA catabolic process	IDA Inferred from Direct Assay more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
mitochondrial matrix	TAS Traceable Author Statement more info
mitochondrion	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Go to the top of the page Help

Preferred Names: methylglutaconyl-CoA hydratase, mitochondrial

Names: methylglutaconyl-CoA hydratase, mitochondrial; 3-methylglutaconyl-CoA hydratase; AU-binding protein/Enoyl-CoA hydratase; AU-specific RNA-binding enoyl-CoA hydratase; AU RNA binding protein/enoyl-Coenzyme A hydratase; AU RNA-binding protein/enoyl-Coenzyme A hydratase

NP_001689.1

EC 4.2.1.18

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008017.1 RefSeqGene

Range

5001..153110

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001698.2 → NP_001689.1 methylglutaconyl-CoA hydratase, mitochondrial precursor

Status: REVIEWED

Source sequence(s)

AV751432, BG706374, DA724873, X79888

Consensus CDS

CCDS6689.1

UniProtKB/Swiss-Prot

Q13825

Related

ENSP00000364883, OTTHUMP00000021631, ENST00000375731, OTTHUMT00000053032

Conserved Domains (2) summary

cd06558
Location:84 – 277
Blast Score: 403

crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

PLN02600
Location:86 – 339
Blast Score: 661

PLN02600; enoyl-CoA hydratase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000009.11 Reference GRCh37.p10 Primary Assembly

Range

93976097..94124206, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000141.1 Alternate HuRef

Range

63656405..63804572, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018920.1 Alternate CHM1_1.0

Range

93994713..94142808, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01012850.1 (18003..113249)	None
genomic	ABBA01012851.1	None
genomic	ABBA01012852.1	None
genomic	ABBA01012853.1	None
genomic	AL158071.23 (157519..181622)	None
genomic	AL353645.16 (2000..22780)	None
genomic	AL513353.7 (2000..105224)	None
genomic	AMYH01021504.1 (131012..279107)	None
genomic	CH471089.1	EAW62794.1
		EAW62795.1
mRNA	AK302453.1	BAG63748.1
mRNA	AV751432.1	None
mRNA	BC020722.1	AAH20722.1
mRNA	BG706374.1	None
mRNA	DA724873.1	None
mRNA	X79888.1	CAA56260.1
other-genetic	AM393420.1	CAL38298.1
other-genetic	DQ892036.2	ABM82962.1
other-genetic	DQ895227.2	ABM86153.1