Property Summary

NCBI Gene PubMed Count 21
PubMed Score 93.81
PubTator Score 66.89

Knowledge Summary


No data available


  Differential Expression (16)

Disease log2 FC p
urothelial carcinoma -1.100 2.9e-02
astrocytic glioma -1.600 1.4e-02
oligodendroglioma -1.500 2.5e-02
ependymoma -1.200 1.5e-06
glioblastoma -1.600 3.6e-04
medulloblastoma -1.300 1.2e-03
atypical teratoid / rhabdoid tumor -1.100 4.7e-04
medulloblastoma, large-cell -1.500 7.6e-05
tuberculosis 1.100 1.5e-03
pancreatic ductal adenocarcinoma liver m... -1.093 1.0e-02
adult high grade glioma -1.600 3.2e-06
pilocytic astrocytoma -1.100 6.3e-05
Pick disease -1.300 4.2e-04
gastric carcinoma -1.300 3.9e-02
ulcerative colitis -1.400 5.7e-09
ovarian cancer -1.900 1.2e-07

Gene RIF (9)

24598254 AUH localizes to the inner mitochondrial membrane and matrix where it associates with mitochondrial ribosomes and regulates protein synthesis.
21840233 Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel deletion of exons 1-3 within the AUH gene.
20877624 Observational study of gene-disease association. (HuGE Navigator)
18978678 Observational study of gene-disease association. (HuGE Navigator)
18831052 The AUH trimer dimerizes upon binding to one molecule of a long RNA containing 24 repeats of the AUUU motif, (AUUU)(24)A.
16640564 Mutations in the AUH gene are linked to metabolic disease 3-methylglutaconic aciduria type I (MGA1).
15033206 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.
12655555 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.
12434311 3-Methylglutaconic aciduria type I is caused by mutations in AUH

AA Sequence


Text Mined References (25)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24598254 2014 A bifunctional protein regulates mitochondrial protein synthesis.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
21840233 2011 Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion.
21269460 2011 Initial characterization of the human central proteome.
21150874 2011 A genome-wide association study for diabetic nephropathy genes in African Americans.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
18978678 2008 Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
18831052 2009 AU-rich RNA-binding induces changes in the quaternary structure of AUH.
16640564 2006 Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism.
16381901 2006 The LIFEdb database in 2006.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164053 2004 DNA sequence and analysis of human chromosome 9.
15033206 2004 3-methylglutaconic aciduria type I in a boy with fever-associated seizures.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12655555 2003 Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12434311 2002 3-Methylglutaconic aciduria type I is caused by mutations in AUH.
11738050 2001 Crystal structure of human AUH protein, a single-stranded RNA binding homolog of enoyl-CoA hydratase.
11076863 2000 DNA cloning using in vitro site-specific recombination.
10072761 1999 Characterisation and mitochondrial localisation of AUH, an AU-specific RNA-binding enoyl-CoA hydratase.
9108262 1997 A 20-amino-acid autonomous RNA-binding domain contained in an enoyl-CoA hydratase.
7892223 1995 AUH, a gene encoding an AU-specific RNA binding protein with intrinsic enoyl-CoA hydratase activity.