A240V AUH [mitochondrial matrix]

Stable Identifier
R-HSA-9914316
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
methylglutaconyl-CoA hydratase, AU RNA binding protein
Icon
A240V AUH [mitochondrial matrix] icon
A240V AUH [mitochondrial matrix] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
12655555 Mutations in the AUH gene cause 3-methylglutaconic aciduria type I

Hoffmann, GF, Liesert, M, Buckel, W, Zschocke, J, Ensenauer, R, Wilcken, B, Gibson, KM, Peters, V, Ly, TB, Carpenter, K, Mack, M

Hum Mutat 2003
20855850 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy

Illsinger, S, Kremer, BH, Das, AM, Morava, E, Wilcken, B, Cruysberg, JR, Wortmann, SB, Hogg, SL, Loupatty, FJ, Graham, A, Willemsen, MA, Kluijtmans, LA, Wevers, RA, Engelke, UF, Wanders, RJ

Neurology 2010
7850987 The detection of 3-methylglutarylcarnitine and a new dicarboxylic conjugate, 3-methylglutaconylcarnitine, in 3-methylglutaconic aciduria

Gibson, KM, de Wet, WJ, Mienie, LJ, Erasmus, E, Jooste, S

Clin Chim Acta 1994
External Reference Information
External Reference
UniProt:Q13825 AUH
Gene Names
AUH
Chain
transit peptide:1-67, chain:68-339
Reference Genes
BioGPS Gene:549 AUH
COSMIC (genes):AUH AUH
CTD Gene:549 AUH
dbSNP Gene:549 AUH
ENSEMBL:ENSG00000148090 AUH
HGNC:890 AUH
KEGG:hsa:549 AUH
Monarch:549 AUH
NCBI Gene:549 AUH
OMIM:600529 AUH
UCSC:Q13825 AUH
Reference Transcript
Other Identifiers
11745450_a_at
11749988_x_at
17095686
205052_PM_at
205052_at
3214373
3214374
3214375
3214378
3214380
3214385
3214386
3214400
3214401
3214405
3214406
3214412
3214415
3214416
3214417
3214420
3214421
3214422
3214423
3214424
37616_at
549
8162264
A_23_P20852
GE60058
GO:0003723
GO:0003730
GO:0003824
GO:0004300
GO:0004490
GO:0005739
GO:0005759
GO:0006520
GO:0006552
GO:0006629
GO:0006635
GO:0009083
GO:0016829
GO:0043226
GO:0050011
HMNXSV003029040
HMNXSV003045621
ILMN_2231911
PH_hs_0004678
TC09001324.hg
X79888_at
g4502326_3p_at
Participates
as a member of
Other forms of this molecule
G217D AUH [mitochondrial matrix]
R331* AUH [mitochondrial matrix]
R197* AUH [mitochondrial matrix]
AUH [mitochondrial matrix]
Modified Residues
Name
L-alanine 240 replaced with L-valine
Coordinate
240
PsiMod
L-valine residue [MOD:00029]
A protein modification that effectively converts a source amino acid residue to an L-valine.
L-alanine removal [MOD:01631]
A protein modification that effectively removes or replaces an L-alanine.
Cross References
RefSeq
ClinGen
ENSEMBL
OpenTargets
IntEnz
GeneCards
AUH
HPA
PRO
Pharos - Targets
Orphanet
AUH
HMDB Protein
PDB
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