UniProtKB - Q13825 (AUHM_HUMAN)
Protein
Methylglutaconyl-CoA hydratase, mitochondrial
Gene
AUH
Organism
Homo sapiens (Human)
Status
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
: L-leucine degradation Pathwayi
This protein is involved in step 3 of the subpathway that synthesizes (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA.1 PublicationProteins known to be involved in the 3 steps of the subpathway in this organism are:
- Butyryl-CoA dehydrogenase (IVD), Isovaleryl-CoA dehydrogenase, mitochondrial (IVD), Butyryl-CoA dehydrogenase (IVD), Butyryl-CoA dehydrogenase (IVD), Butyryl-CoA dehydrogenase, Butyryl-CoA dehydrogenase (IVD), Butyryl-CoA dehydrogenase (IVD), Butyryl-CoA dehydrogenase (IVD)
- Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (MCCC2), Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (MCCC1)
- Methylglutaconyl-CoA hydratase, mitochondrial (AUH)
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
- itaconyl-CoA hydratase activity Source: UniProtKB-EC
- methylglutaconyl-CoA hydratase activity Source: UniProtKB-EC
- mRNA 3'-UTR binding Source: UniProtKB
GO - Biological processi
- branched-chain amino acid catabolic process Source: Reactome
- fatty acid beta-oxidation Source: GO_Central
- leucine catabolic process Source: UniProtKB-UniPathway
Keywordsi
Molecular function | Lyase, RNA-binding |
Biological process | Branched-chain amino acid catabolism |
Enzyme and pathway databases
BioCyci | MetaCyc:HS07490-MONOMER |
BRENDAi | 4.2.1.18, 2681 |
PathwayCommonsi | Q13825 |
Reactomei | R-HSA-70895, Branched-chain amino acid catabolism |
SABIO-RKi | Q13825 |
UniPathwayi | UPA00363;UER00862 |
Protein family/group databases
MoonProti | Q13825 |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:AUH |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:890, AUH |
MIMi | 600529, gene |
neXtProti | NX_Q13825 |
VEuPathDBi | HostDB:ENSG00000148090.11 |
Subcellular locationi
Mitochondrion
- Mitochondrion By similarity
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrion Source: UniProtKB
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
3-methylglutaconic aciduria 1 (MGCA1)1 Publication
The disease is caused by variants 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. 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).
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_016911 | 240 | A → V in MGCA1. 1 PublicationCorresponds to variant dbSNP:rs769894315EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 105 | K → N: Abolishes RNA-binding; when associated with E-109 and Q-113. 1 Publication | 1 | |
Mutagenesisi | 109 | K → E: Abolishes RNA-binding; when associated with N-105 and Q-113. 1 Publication | 1 | |
Mutagenesisi | 113 | K → Q: Abolishes RNA-binding; when associated with N-105 and E-109. 1 Publication | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 549 |
MalaCardsi | AUH |
MIMi | 250950, phenotype |
OpenTargetsi | ENSG00000148090 |
Orphaneti | 67046, 3-methylglutaconic aciduria type 1 |
PharmGKBi | PA25181 |
Miscellaneous databases
Pharosi | Q13825, Tbio |
Genetic variation databases
BioMutai | AUH |
DMDMi | 37076898 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 67 | Mitochondrion1 PublicationAdd BLAST | 67 | |
ChainiPRO_0000007415 | 68 – 339 | Methylglutaconyl-CoA hydratase, mitochondrialAdd BLAST | 272 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 100 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 100 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 109 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 113 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 113 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 144 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 144 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 148 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 160 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 204 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 204 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 211 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 211 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 329 | N6-succinyllysineBy similarity | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q13825 |
jPOSTi | Q13825 |
MassIVEi | Q13825 |
MaxQBi | Q13825 |
PaxDbi | Q13825 |
PeptideAtlasi | Q13825 |
PRIDEi | Q13825 |
ProteomicsDBi | 59696 [Q13825-1] 59697 [Q13825-2] |
TopDownProteomicsi | Q13825-1 [Q13825-1] Q13825-2 [Q13825-2] |
PTM databases
iPTMneti | Q13825 |
PhosphoSitePlusi | Q13825 |
Expressioni
Gene expression databases
Bgeei | ENSG00000148090, Expressed in cortex of kidney and 235 other tissues |
Genevisiblei | Q13825, HS |
Organism-specific databases
HPAi | ENSG00000148090, Low tissue specificity |
Interactioni
Subunit structurei
Homohexamer.
1 PublicationProtein-protein interaction databases
BioGRIDi | 107030, 24 interactors |
IntActi | Q13825, 1 interactor |
STRINGi | 9606.ENSP00000364883 |
Miscellaneous databases
RNActi | Q13825, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q13825 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q13825 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 105 – 119 | RNA-binding1 PublicationAdd BLAST | 15 |
Sequence similaritiesi
Belongs to the enoyl-CoA hydratase/isomerase family.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG1679, Eukaryota |
GeneTreei | ENSGT00940000157484 |
HOGENOMi | CLU_009834_7_6_1 |
InParanoidi | Q13825 |
OMAi | AMEMIMT |
OrthoDBi | 1123666at2759 |
PhylomeDBi | Q13825 |
TreeFami | TF314276 |
Family and domain databases
Gene3Di | 1.10.12.10, 1 hit |
InterProi | View 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 |
Pfami | View protein in Pfam PF00378, ECH_1, 1 hit |
SUPFAMi | SSF52096, SSF52096, 1 hit |
PROSITEi | View protein in PROSITE PS00166, ENOYL_COA_HYDRATASE, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q13825-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_016911 | 240 | A → V in MGCA1. 1 PublicationCorresponds to variant dbSNP:rs769894315EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_008336 | 140 – 168 | Missing in isoform 2. 1 PublicationAdd BLAST | 29 |
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 |
CCDSi | CCDS6689.1 [Q13825-1] CCDS78409.1 [Q13825-2] |
PIRi | I37195 |
RefSeqi | NP_001293119.1, NM_001306190.1 [Q13825-2] NP_001689.1, NM_001698.2 [Q13825-1] |
Genome annotation databases
Ensembli | ENST00000303617; ENSP00000307334; ENSG00000148090 [Q13825-2] ENST00000375731; ENSP00000364883; ENSG00000148090 [Q13825-1] |
GeneIDi | 549 |
KEGGi | hsa:549 |
UCSCi | uc004arf.5, human [Q13825-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS6689.1 [Q13825-1] CCDS78409.1 [Q13825-2] |
PIRi | I37195 |
RefSeqi | NP_001293119.1, NM_001306190.1 [Q13825-2] NP_001689.1, NM_001698.2 [Q13825-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1HZD | X-ray | 2.20 | A/B/C/D/E/F | 68-339 | [»] | |
2ZQQ | X-ray | 2.20 | A/B/C/D/E/F | 68-339 | [»] | |
2ZQR | X-ray | 2.50 | A/B/C/D/E/F | 68-339 | [»] | |
SMRi | Q13825 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 107030, 24 interactors |
IntActi | Q13825, 1 interactor |
STRINGi | 9606.ENSP00000364883 |
Protein family/group databases
MoonProti | Q13825 |
PTM databases
iPTMneti | Q13825 |
PhosphoSitePlusi | Q13825 |
Genetic variation databases
BioMutai | AUH |
DMDMi | 37076898 |
Proteomic databases
EPDi | Q13825 |
jPOSTi | Q13825 |
MassIVEi | Q13825 |
MaxQBi | Q13825 |
PaxDbi | Q13825 |
PeptideAtlasi | Q13825 |
PRIDEi | Q13825 |
ProteomicsDBi | 59696 [Q13825-1] 59697 [Q13825-2] |
TopDownProteomicsi | Q13825-1 [Q13825-1] Q13825-2 [Q13825-2] |
Protocols and materials databases
Antibodypediai | 1316, 134 antibodies |
DNASUi | 549 |
Genome annotation databases
Ensembli | ENST00000303617; ENSP00000307334; ENSG00000148090 [Q13825-2] ENST00000375731; ENSP00000364883; ENSG00000148090 [Q13825-1] |
GeneIDi | 549 |
KEGGi | hsa:549 |
UCSCi | uc004arf.5, human [Q13825-1] |
Organism-specific databases
CTDi | 549 |
DisGeNETi | 549 |
GeneCardsi | AUH |
HGNCi | HGNC:890, AUH |
HPAi | ENSG00000148090, Low tissue specificity |
MalaCardsi | AUH |
MIMi | 250950, phenotype 600529, gene |
neXtProti | NX_Q13825 |
OpenTargetsi | ENSG00000148090 |
Orphaneti | 67046, 3-methylglutaconic aciduria type 1 |
PharmGKBi | PA25181 |
VEuPathDBi | HostDB:ENSG00000148090.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1679, Eukaryota |
GeneTreei | ENSGT00940000157484 |
HOGENOMi | CLU_009834_7_6_1 |
InParanoidi | Q13825 |
OMAi | AMEMIMT |
OrthoDBi | 1123666at2759 |
PhylomeDBi | Q13825 |
TreeFami | TF314276 |
Enzyme and pathway databases
UniPathwayi | UPA00363;UER00862 |
BioCyci | MetaCyc:HS07490-MONOMER |
BRENDAi | 4.2.1.18, 2681 |
PathwayCommonsi | Q13825 |
Reactomei | R-HSA-70895, Branched-chain amino acid catabolism |
SABIO-RKi | Q13825 |
Miscellaneous databases
BioGRID-ORCSi | 549, 3 hits in 876 CRISPR screens |
ChiTaRSi | AUH, human |
EvolutionaryTracei | Q13825 |
GenomeRNAii | 549 |
Pharosi | Q13825, Tbio |
PROi | PR:Q13825 |
RNActi | Q13825, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000148090, Expressed in cortex of kidney and 235 other tissues |
Genevisiblei | Q13825, HS |
Family and domain databases
Gene3Di | 1.10.12.10, 1 hit |
InterProi | View 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 |
Pfami | View protein in Pfam PF00378, ECH_1, 1 hit |
SUPFAMi | SSF52096, SSF52096, 1 hit |
PROSITEi | View protein in PROSITE PS00166, ENOYL_COA_HYDRATASE, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | AUHM_HUMAN | |
Accessioni | Q13825Primary (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: | February 10, 2021 | |
This is version 187 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 9
Human chromosome 9: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families