Property Summary

NCBI Gene PubMed Count 21
Grant Count 2
R01 Count 2
Funding $708,334
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 0.029
astrocytic glioma -1.600 0.014
oligodendroglioma -1.500 0.025
ependymoma -1.200 0.000
glioblastoma -1.600 0.000
medulloblastoma -1.300 0.001
atypical teratoid / rhabdoid tumor -1.100 0.000
medulloblastoma, large-cell -1.500 0.000
tuberculosis 1.100 0.001
pancreatic ductal adenocarcinoma liver m... -1.093 0.010
adult high grade glioma -1.600 0.000
pilocytic astrocytoma -1.100 0.000
Pick disease -1.300 0.000
gastric carcinoma -1.300 0.039
ulcerative colitis -1.400 0.000
ovarian cancer -1.900 0.000

Synonym

Accession Q13825 B1ALV7 B1ALV8 Q8WUE4
Symbols

Gene

AUH

PANTHER Protein Class (2)

 Grant Application (2)

PDB

1HZD   2ZQQ   2ZQR  

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.
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