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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]
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.
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 | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IBA,ISS | -- |
GO:0005759 | mitochondrial matrix | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Valine, leucine and isoleucine degradation | ||
2 | Metabolism |
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|
|
3 | Viral mRNA Translation | ||
4 | Amino Acid metabolism |
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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Water | Approved | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
3-hydroxy-3-methylglutaryl-coa |
|
1553-55-5 | ||||
3-methylglutaconyl-coa |
|
6247-73-0 | ||||
Ceramide (d18:1/16:0) |
|
|
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | · | 11c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AUH 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AUH 30 |
|
||
Rat (Rattus norvegicus) |
Mammalia | Auh 30 |
|
||
Cow (Bos Taurus) |
Mammalia | AUH 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Auh 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | AUH 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | AUH 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | AUH 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | auh 30 |
|
||
Str.17781 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | auh 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2935 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011354 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG8778 30 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | ech-5 30 31 |
|
OneToMany | |
F56B3.5 32 |
|
|
|||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT4G16800 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0654100 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1444 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.13481 30 |
|
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
3-methylglutaconic aciduria, type i |
|
|
3-methylglutaconic aciduria |
|
|
neurometabolic disease |
|
|
pyosalpinx |
|
|
lactic acidosis |
|