AUH

Protein identityUniProt · HPA

UniProt accession

Q13825

Gene

AUH

Ensembl

ENSG00000148090

Chromosome

9

Canonical length

339 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Vesicles,Centrosome,Cytosol

Quaternary structure

Homohexamer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

339 residues, UniProt reviewed canonical sequence.

>Q13825|AUH
     1  MAAAVAAAPG ALGSLHAGGA RLVAACSAWL CPGLRLPGSL AGRRAGPAIW AQGWVPAAGG
    61  PAPKRGYSSE MKTEDELRVR HLEEENRGIV VLGINRAYGK NSLSKNLIKM LSKAVDALKS
   121  DKKVRTIIIR SEVPGIFCAG ADLKERAKMS SSEVGPFVSK IRAVINDIAN LPVPTIAAID
   181  GLALGGGLEL ALACDIRVAA SSAKMGLVET KLAIIPGGGG TQRLPRAIGM SLAKELIFSA
   241  RVLDGKEAKA VGLISHVLEQ NQEGDAAYRK ALDLAREFLP QGPVAMRVAK LAINQGMEVD
   301  LVTGLAIEEA CYAQTIPTKD RLEGLLAFKE KRPPRYKGE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AUH can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.37

Highest tissue expression

59 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AUH.

Disease | AllUniProt

Conditions AUH is implicated in, by any mechanism.

• 3-methylglutaconic aciduria 1 (MGCA1) MIM:250950

Disease | GeneticClinVar

33 pathogenic / likely-pathogenic of 288 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• 3-methylglutaconic aciduria type 1
• AUH-related disorder
• 3-Methylglutaconic aciduria

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.96

gnomAD pLI

0

gnomAD missense Z

0.34

DepMap mean gene effect

-0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• fatty acid beta-oxidation
• L-leucine catabolic process

Molecular functions

• enoyl-CoA hydratase activity
• mRNA 3'-UTR binding
• itaconyl-CoA hydratase activity
• methylglutaconyl-CoA hydratase activity

Cellular components

• mitochondrial matrix
• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Enoyl-CoA hydratase/isomerase-like domain
• Enoyl-CoA hydratase, C-terminal
• Enoyl-CoA hydratase/isomerase, conserved site
• ClpP/crotonase-like domain superfamily
• Enoyl-CoA hydratase/isomerase

KeywordsUniProt

• Acetylation
• Branched-chain amino acid catabolism
• Lyase
• Mitochondrion
• RNA-binding
• Transit peptide