AUH (AU RNA binding methylglutaconyl-CoA hydratase)

2014-11-01  

Identity

HGNC
LOCATION
9q22.31
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 549
MIM: 600529
HGNC: 890
Ensembl: ENSG00000148090

Variants:

dbSNP: 549
ClinVar: 549
TCGA: ENSG00000148090
COSMIC: AUH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148090ENST00000303617Q13825
ENSG00000148090ENST00000375731Q13825

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
Valine, leucine and isoleucine degradationKEGGko00280
Valine, leucine and isoleucine degradationKEGGhsa00280
Metabolic pathwaysKEGGhsa01100
Leucine degradation, leucine => acetoacetate + acetyl-CoAKEGGhsa_M00036
Leucine degradation, leucine => acetoacetate + acetyl-CoAKEGGM00036
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Branched-chain amino acid catabolismREACTOMER-HSA-70895

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
189786782008Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.21
1243431120023-Methylglutaconic aciduria type I is caused by mutations in AUH.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
126555552003Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.10
245982542014A bifunctional protein regulates mitochondrial protein synthesis.7
166405642006Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism.6
188310522009AU-rich RNA-binding induces changes in the quaternary structure of AUH.5
1503320620043-methylglutaconic aciduria type I in a boy with fever-associated seizures.2
218402332011Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion.1

Citation

Dessen P

AUH (AU RNA binding methylglutaconyl-CoA hydratase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60664/auh