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Protein

Methylglutaconyl-CoA hydratase, mitochondrial

Gene

AUH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalyzes the conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA. Has very low enoyl-CoA hydratase activity. Was originally identified as RNA-binding protein that binds in vitro to clustered 5'-AUUUA-3' motifs.4 Publications

Catalytic activityi

(S)-3-hydroxy-3-methylglutaryl-CoA = trans-3-methylglutaconyl-CoA + H2O.

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.
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 subunit alpha, mitochondrial (MCCC1), Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (MCCC2)
  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

  • enoyl-CoA hydratase activity Source: UniProtKB
  • methylglutaconyl-CoA hydratase activity Source: Reactome
  • mRNA 3'-UTR binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Lyase

Keywords - Biological processi

Branched-chain amino acid catabolism

Keywords - Ligandi

RNA-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS07490-MONOMER.
ZFISH:HS07490-MONOMER.
BRENDAi4.2.1.18. 2681.
ReactomeiR-HSA-70895. Branched-chain amino acid catabolism.
SABIO-RKQ13825.
UniPathwayiUPA00363; UER00862.

Names & Taxonomyi

Protein namesi
Recommended name:
Methylglutaconyl-CoA hydratase, mitochondrial (EC:4.2.1.18)
Alternative name(s):
AU-specific RNA-binding enoyl-CoA hydratase
Short name:
AU-binding protein/enoyl-CoA hydratase
Gene namesi
Name:AUH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:890. AUH.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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 rs769894315dbSNPEnsembl.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.
TopDownProteomicsiQ13825-1. [Q13825-1]
Q13825-2. [Q13825-2]

PTM databases

iPTMnetiQ13825.
PhosphoSitePlusiQ13825.

Expressioni

Gene expression databases

BgeeiENSG00000148090.
CleanExiHS_AUH.
GenevisibleiQ13825. HS.

Organism-specific databases

HPAiHPA004171.

Interactioni

Subunit structurei

Homohexamer.

Protein-protein interaction databases

BioGridi107030. 7 interactors.
STRINGi9606.ENSP00000364883.

Structurei

Secondary structure

1339
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi76 – 81Combined sources6
Helixi84 – 86Combined sources3
Beta strandi89 – 94Combined sources6
Helixi97 – 99Combined sources3
Helixi107 – 120Combined sources14
Beta strandi125 – 133Combined sources9
Beta strandi135 – 138Combined sources4
Helixi143 – 146Combined sources4
Helixi151 – 169Combined sources19
Beta strandi175 – 184Combined sources10
Helixi186 – 193Combined sources8
Beta strandi194 – 200Combined sources7
Beta strandi204 – 206Combined sources3
Helixi209 – 212Combined sources4
Helixi220 – 228Combined sources9
Helixi230 – 239Combined sources10
Beta strandi242 – 244Combined sources3
Helixi245 – 250Combined sources6
Beta strandi255 – 258Combined sources4
Helixi266 – 276Combined sources11
Turni277 – 280Combined sources4
Helixi283 – 297Combined sources15
Helixi301 – 313Combined sources13
Turni314 – 317Combined sources4
Helixi319 – 328Combined sources10
Turni329 – 331Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1HZDX-ray2.20A/B/C/D/E/F68-339[»]
2ZQQX-ray2.20A/B/C/D/E/F68-339[»]
2ZQRX-ray2.50A/B/C/D/E/F68-339[»]
ProteinModelPortaliQ13825.
SMRiQ13825.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13825.

Family & Domainsi

Region

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

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1679. Eukaryota.
COG1024. LUCA.
GeneTreeiENSGT00760000119100.
HOGENOMiHOG000027939.
HOVERGENiHBG106714.
InParanoidiQ13825.
KOiK05607.
OMAiNSFSRGM.
OrthoDBiEOG091G0Q9K.
PhylomeDBiQ13825.
TreeFamiTF314276.

Family and domain databases

Gene3Di1.10.12.10. 1 hit.
3.90.226.10. 1 hit.
InterProiIPR029045. ClpP/crotonase-like_dom.
IPR014748. Crontonase_C.
IPR001753. Crotonase_core_superfam.
IPR018376. Enoyl-CoA_hyd/isom_CS.
[Graphical view]
PfamiPF00378. ECH_1. 1 hit.
[Graphical view]
SUPFAMiSSF52096. SSF52096. 1 hit.
PROSITEiPS00166. ENOYL_COA_HYDRATASE. 1 hit.
[Graphical view]

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 rs769894315dbSNPEnsembl.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, AL353645, AL513353 Genomic DNA. Translation: CAH72265.1.
AL158071, AL353645, AL513353 Genomic DNA. Translation: CAH72266.1.
AL513353, AL158071, AL353645 Genomic DNA. Translation: CAH72310.1.
AL513353, AL158071, AL353645 Genomic DNA. Translation: CAH72311.1.
AL353645, AL158071, AL513353 Genomic DNA. Translation: CAH73894.1.
AL353645, AL158071, AL513353 Genomic DNA. Translation: CAH73895.1.
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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X79888 mRNA. Translation: CAA56260.1.
AL158071, AL353645, AL513353 Genomic DNA. Translation: CAH72265.1.
AL158071, AL353645, AL513353 Genomic DNA. Translation: CAH72266.1.
AL513353, AL158071, AL353645 Genomic DNA. Translation: CAH72310.1.
AL513353, AL158071, AL353645 Genomic DNA. Translation: CAH72311.1.
AL353645, AL158071, AL513353 Genomic DNA. Translation: CAH73894.1.
AL353645, AL158071, AL513353 Genomic DNA. Translation: CAH73895.1.
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1HZDX-ray2.20A/B/C/D/E/F68-339[»]
2ZQQX-ray2.20A/B/C/D/E/F68-339[»]
2ZQRX-ray2.50A/B/C/D/E/F68-339[»]
ProteinModelPortaliQ13825.
SMRiQ13825.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107030. 7 interactors.
STRINGi9606.ENSP00000364883.

PTM databases

iPTMnetiQ13825.
PhosphoSitePlusiQ13825.

Polymorphism and mutation databases

BioMutaiAUH.
DMDMi37076898.

Proteomic databases

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

Protocols and materials databases

DNASUi549.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi549.
DisGeNETi549.
GeneCardsiAUH.
HGNCiHGNC:890. AUH.
HPAiHPA004171.
MalaCardsiAUH.
MIMi250950. phenotype.
600529. gene.
neXtProtiNX_Q13825.
OpenTargetsiENSG00000148090.
Orphaneti67046. 3-methylglutaconic aciduria type 1.
PharmGKBiPA25181.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1679. Eukaryota.
COG1024. LUCA.
GeneTreeiENSGT00760000119100.
HOGENOMiHOG000027939.
HOVERGENiHBG106714.
InParanoidiQ13825.
KOiK05607.
OMAiNSFSRGM.
OrthoDBiEOG091G0Q9K.
PhylomeDBiQ13825.
TreeFamiTF314276.

Enzyme and pathway databases

UniPathwayiUPA00363; UER00862.
BioCyciMetaCyc:HS07490-MONOMER.
ZFISH:HS07490-MONOMER.
BRENDAi4.2.1.18. 2681.
ReactomeiR-HSA-70895. Branched-chain amino acid catabolism.
SABIO-RKQ13825.

Miscellaneous databases

EvolutionaryTraceiQ13825.
GenomeRNAii549.
PROiQ13825.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148090.
CleanExiHS_AUH.
GenevisibleiQ13825. HS.

Family and domain databases

Gene3Di1.10.12.10. 1 hit.
3.90.226.10. 1 hit.
InterProiIPR029045. ClpP/crotonase-like_dom.
IPR014748. Crontonase_C.
IPR001753. Crotonase_core_superfam.
IPR018376. Enoyl-CoA_hyd/isom_CS.
[Graphical view]
PfamiPF00378. ECH_1. 1 hit.
[Graphical view]
SUPFAMiSSF52096. SSF52096. 1 hit.
PROSITEiPS00166. ENOYL_COA_HYDRATASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAUHM_HUMAN
AccessioniPrimary (citable) accession number: Q13825
Secondary accession number(s): B1ALV7, B1ALV8, Q8WUE4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: November 1, 1996
Last modified: November 2, 2016
This is version 160 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.