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Protein

Methylglutaconyl-CoA hydratase, mitochondrial

Gene

AUH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes the conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA (PubMed:11738050, PubMed:12434311, PubMed:12655555). Also has itaconyl-CoA hydratase activity by converting itaconyl-CoA into citramalyl-CoA in the C5-dicarboxylate catabolism pathway (PubMed:29056341). The C5-dicarboxylate catabolism pathway is required to detoxify itaconate, a vitamin B12-poisoning metabolite (PubMed:29056341). Has very low enoyl-CoA hydratase activity (PubMed:7892223). Was originally identified as RNA-binding protein that binds in vitro to clustered 5'-AUUUA-3' motifs (PubMed:7892223).1 Publication4 Publications

Catalytic activityi

(S)-3-hydroxy-3-methylglutaryl-CoA = trans-3-methylglutaconyl-CoA + H2O.1 Publication
Citramalyl-CoA = itaconyl-CoA + H2O.1 Publication

Pathwayi: L-leucine degradation

This protein is involved in step 3 of the subpathway that synthesizes (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA.1 Publication
Proteins known to be involved in the 3 steps of the subpathway in this organism are:
  1. Isovaleryl-CoA dehydrogenase, mitochondrial (IVD)
  2. Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (MCCC2), Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (MCCC1)
  3. Methylglutaconyl-CoA hydratase, mitochondrial (AUH)
This subpathway is part of the pathway L-leucine degradation, which is itself part of Amino-acid degradation.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA, the pathway L-leucine degradation and in Amino-acid degradation.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionLyase, RNA-binding
Biological processBranched-chain amino acid catabolism

Enzyme and pathway databases

BioCyciMetaCyc:HS07490-MONOMER
BRENDAi4.2.1.18 2681
ReactomeiR-HSA-70895 Branched-chain amino acid catabolism
SABIO-RKiQ13825
UniPathwayi
UPA00363;UER00862

Protein family/group databases

MoonProtiQ13825

Names & Taxonomyi

Protein namesi
Recommended name:
Methylglutaconyl-CoA hydratase, mitochondrial (EC:4.2.1.181 Publication)
Alternative name(s):
AU-specific RNA-binding enoyl-CoA hydratase
Short name:
AU-binding protein/enoyl-CoA hydratase
Itaconyl-CoA hydratase1 Publication (EC:4.2.1.561 Publication)
Gene namesi
Name:AUH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000148090.11
HGNCiHGNC:890 AUH
MIMi600529 gene
neXtProtiNX_Q13825

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

3-methylglutaconic aciduria 1 (MGA1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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. MGA1 can be distinguished from other forms of MGA 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 MGA forms).
See also OMIM:250950
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_016911240A → V in MGA1. 1 PublicationCorresponds to variant dbSNP:rs769894315EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi105K → N: Abolishes RNA-binding; when associated with E-109 and Q-113. 1 Publication1
Mutagenesisi109K → E: Abolishes RNA-binding; when associated with N-105 and Q-113. 1 Publication1
Mutagenesisi113K → Q: Abolishes RNA-binding; when associated with N-105 and E-109. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi549
MalaCardsiAUH
MIMi250950 phenotype
OpenTargetsiENSG00000148090
Orphaneti67046 3-methylglutaconic aciduria type 1
PharmGKBiPA25181

Polymorphism and mutation databases

BioMutaiAUH
DMDMi37076898

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 67Mitochondrion1 PublicationAdd BLAST67
ChainiPRO_000000741568 – 339Methylglutaconyl-CoA hydratase, mitochondrialAdd BLAST272

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei100N6-acetyllysine; alternateBy similarity1
Modified residuei100N6-succinyllysine; alternateBy similarity1
Modified residuei109N6-succinyllysineBy similarity1
Modified residuei113N6-acetyllysine; alternateBy similarity1
Modified residuei113N6-succinyllysine; alternateBy similarity1
Modified residuei144N6-acetyllysine; alternateBy similarity1
Modified residuei144N6-succinyllysine; alternateBy similarity1
Modified residuei148N6-succinyllysineBy similarity1
Modified residuei160N6-succinyllysineBy similarity1
Modified residuei204N6-acetyllysine; alternateBy similarity1
Modified residuei204N6-succinyllysine; alternateBy similarity1
Modified residuei211N6-acetyllysine; alternateBy similarity1
Modified residuei211N6-succinyllysine; alternateBy similarity1
Modified residuei329N6-succinyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ13825
MaxQBiQ13825
PaxDbiQ13825
PeptideAtlasiQ13825
PRIDEiQ13825
ProteomicsDBi59696
59697 [Q13825-2]
TopDownProteomicsiQ13825-1 [Q13825-1]
Q13825-2 [Q13825-2]

PTM databases

iPTMnetiQ13825
PhosphoSitePlusiQ13825

Expressioni

Gene expression databases

BgeeiENSG00000148090 Expressed in 225 organ(s), highest expression level in cortex of kidney
CleanExiHS_AUH
GenevisibleiQ13825 HS

Organism-specific databases

HPAiHPA004171

Interactioni

Subunit structurei

Homohexamer.1 Publication

Protein-protein interaction databases

BioGridi107030, 9 interactors
STRINGi9606.ENSP00000364883

Structurei

Secondary structure

1339
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ13825
SMRiQ13825
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13825

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni105 – 119RNA-binding1 PublicationAdd BLAST15

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1679 Eukaryota
COG1024 LUCA
GeneTreeiENSGT00890000139344
HOGENOMiHOG000027939
HOVERGENiHBG106714
InParanoidiQ13825
KOiK05607
OMAiKGRAMEM
OrthoDBiEOG091G0Q9K
PhylomeDBiQ13825
TreeFamiTF314276

Family and domain databases

Gene3Di1.10.12.10, 1 hit
InterProiView protein in InterPro
IPR029045 ClpP/crotonase-like_dom_sf
IPR018376 Enoyl-CoA_hyd/isom_CS
IPR001753 Enoyl-CoA_hydra/iso
IPR014748 Enoyl-CoA_hydra_C
PfamiView protein in Pfam
PF00378 ECH_1, 1 hit
SUPFAMiSSF52096 SSF52096, 1 hit
PROSITEiView protein in PROSITE
PS00166 ENOYL_COA_HYDRATASE, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q13825-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAAVAAAPG ALGSLHAGGA RLVAACSAWL CPGLRLPGSL AGRRAGPAIW
60 70 80 90 100
AQGWVPAAGG PAPKRGYSSE MKTEDELRVR HLEEENRGIV VLGINRAYGK
110 120 130 140 150
NSLSKNLIKM LSKAVDALKS DKKVRTIIIR SEVPGIFCAG ADLKERAKMS
160 170 180 190 200
SSEVGPFVSK IRAVINDIAN LPVPTIAAID GLALGGGLEL ALACDIRVAA
210 220 230 240 250
SSAKMGLVET KLAIIPGGGG TQRLPRAIGM SLAKELIFSA RVLDGKEAKA
260 270 280 290 300
VGLISHVLEQ NQEGDAAYRK ALDLAREFLP QGPVAMRVAK LAINQGMEVD
310 320 330
LVTGLAIEEA CYAQTIPTKD RLEGLLAFKE KRPPRYKGE
Length:339
Mass (Da):35,609
Last modified:November 1, 1996 - v1
Checksum:iE04FEB95933FB30B
GO
Isoform 2 (identifier: Q13825-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     140-168: Missing.

Note: No experimental confirmation available.
Show »
Length:310
Mass (Da):32,508
Checksum:i24B4C6983AFED47F
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_016911240A → V in MGA1. 1 PublicationCorresponds to variant dbSNP:rs769894315EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_008336140 – 168Missing in isoform 2. 1 PublicationAdd BLAST29

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X79888 mRNA Translation: CAA56260.1
AL158071 Genomic DNA No translation available.
AL513353 Genomic DNA No translation available.
AL353645 Genomic DNA No translation available.
CH471089 Genomic DNA Translation: EAW62794.1
CH471089 Genomic DNA Translation: EAW62795.1
BC020722 mRNA Translation: AAH20722.1
CCDSiCCDS6689.1 [Q13825-1]
CCDS78409.1 [Q13825-2]
PIRiI37195
RefSeqiNP_001293119.1, NM_001306190.1 [Q13825-2]
NP_001689.1, NM_001698.2 [Q13825-1]
UniGeneiHs.175905

Genome annotation databases

EnsembliENST00000303617; ENSP00000307334; ENSG00000148090 [Q13825-2]
ENST00000375731; ENSP00000364883; ENSG00000148090 [Q13825-1]
GeneIDi549
KEGGihsa:549
UCSCiuc004arf.5 human [Q13825-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiAUHM_HUMAN
AccessioniPrimary (citable) accession number: Q13825
Secondary accession number(s): B1ALV7, B1ALV8, Q8WUE4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: November 1, 1996
Last modified: September 12, 2018
This is version 173 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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