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
245982542014A bifunctional protein regulates mitochondrial protein synthesis.11
245982542014A bifunctional protein regulates mitochondrial protein synthesis.11
218402332011Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion.4
218402332011Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion.4
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
188310522009AU-rich RNA-binding induces changes in the quaternary structure of AUH.6
188310522009AU-rich RNA-binding induces changes in the quaternary structure of AUH.6
189786782008Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.36
189786782008Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.36
166405642006Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism.15
166405642006Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism.15
1503320620043-methylglutaconic aciduria type I in a boy with fever-associated seizures.7
1503320620043-methylglutaconic aciduria type I in a boy with fever-associated seizures.7
126555552003Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.16

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/js/favicon/css/template-card.css