Property Summary

NCBI Gene PubMed Count 21
PubMed Score 93.81
PubTator Score 66.89

Knowledge Summary

Patent

No data available

Expression

  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)

PMID Text
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

MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSE      1 - 70
MKTEDELRVRHLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAG     71 - 140
ADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVET    141 - 210
KLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLP    211 - 280
QGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE               281 - 339
//

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.