AUH
entrez
549
canonical
uniprot
Q13825
canonical
ensembl
ENSG00000148090
resolver
ensp
ENSP00000307334
resolver
ensp
ENSP00000364883
resolver
ensp
ENSP00000565978
resolver
ensp
ENSP00000565985
resolver
ensp
ENSP00000565986
resolver
ensp
ENSP00000651392
resolver
ensp
ENSP00000719955
resolver
ensp
ENSP00000719958
resolver
ensp
ENSP00000784961
resolver
genesymbol
AUH
resolver
hgnc
HGNC:890
resolver
uniprot
B1ALV7
resolver
uniprot
B1ALV8
resolver
uniprot
B4DYI6
resolver
uniprot
Q8WUE4
resolver
uniprot_entry
AUHM_HUMAN
resolver
uniprot_entry
B4DYI6_HUMAN
resolver
uniprot_sec
B1ALV7
resolver
uniprot_sec
B1ALV8
resolver
uniprot_sec
Q8WUE4
resolver
amino_acid_sequence
MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGGPAPKRGYSSEMKTEDELRVRHLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKSDKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAIDGLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSARVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMEVDLVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE
uniprot
proteins
disease_involvement
DISEASE: 3-methylglutaconic aciduria 1 (MGCA1) [MIM:250950]: An inborn error of leucine metabolism. It leads to an autosomal recessive syndrome with variable clinical phenotype, ranging from delayed speech development to severe psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. MGCA1 can be distinguished from other forms of MGCA by the pattern of metabolite excretion: 3-methylglutaconic acid levels are higher than those detected in other forms, whereas methylglutaric acid levels are usually only slightly elevated and there is a high level of 3-hydroxyisovaleric acid excretion (not present in other MGCA forms). {ECO:0000269|PubMed:12655555, ECO:0000269|PubMed:16640564}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.2.1.18
uniprot
proteins
ec_number
4.2.1.56
uniprot
proteins
function
FUNCTION: Catalyzes the fifth step in the leucine degradation pathway, the reversible hydration of 3-methylglutaconyl-CoA (3-MG-CoA) to 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) (PubMed:11738050, PubMed:12434311, PubMed:12655555, PubMed:16640564). Can catalyze the reverse reaction but at a much lower rate in vitro (PubMed:16640564). HMG-CoA is then quickly degraded by another enzyme (such as HMG-CoA lyase) to give acetyl-CoA and acetoacetate (PubMed:16640564). Uses other substrates such as (2E)-glutaconyl-CoA efficiently in vitro, and to a lesser extent 3-methylcrotonyl-CoA (3-methyl-(2E)-butenoyl-CoA), crotonyl-CoA ((2E)-butenoyl-CoA) and 3-hydroxybutanoyl-CoA (the missing carboxylate reduces affinity to the active site) (PubMed:16640564). Originally it was identified as an RNA-binding protein as it binds to AU-rich elements (AREs) in vitro (PubMed:7892223). AREs direct rapid RNA degradation and mRNA deadenylation (PubMed:7892223). Might have itaconyl-CoA hydratase activity, converting itaconyl-CoA into citramalyl-CoA in the C5-dicarboxylate catabolism pathway (PubMed:29056341). The C5-dicarboxylate catabolism pathway is required to detoxify itaconate, an antimicrobial metabolite and immunomodulator produced by macrophages during certain infections, that can act as a vitamin B12-poisoning metabolite (PubMed:29056341). {ECO:0000269|PubMed:11738050, ECO:0000269|PubMed:12434311, ECO:0000269|PubMed:12655555, ECO:0000269|PubMed:16640564, ECO:0000269|PubMed:7892223, ECO:0000303|PubMed:16640564, ECO:0000303|PubMed:29056341}.
uniprot
proteins
mass_dalton
35609
uniprot
proteins
mutagenesis
MUTAGEN 105; /note="K->N: Abolishes RNA-binding; when associated with E-109 and Q-113."; /evidence="ECO:0000269|PubMed:11738050"; MUTAGEN 109; /note="K->E: Abolishes RNA-binding; when associated with N-105 and Q-113."; /evidence="ECO:0000269|PubMed:11738050"; MUTAGEN 113; /note="K->Q: Abolishes RNA-binding; when associated with N-105 and E-109."; /evidence="ECO:0000269|PubMed:11738050
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 3/3. {ECO:0000305|PubMed:12434311, ECO:0000305|PubMed:16640564}.
uniprot
proteins
protein_family
Enoyl-CoA hydratase/isomerase family
uniprot
proteins
pubmed
11738050
uniprot
proteins
pubmed
12434311
uniprot
proteins
pubmed
12655555
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16640564
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29056341
uniprot
proteins
pubmed
7892223
uniprot
proteins
sequence_length
339
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:Q9JLZ3}.
uniprot
proteins