Tbio AUH Methylglutaconyl-CoA hydratase, mitochondrial

Protein Summary

Description

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). This gene encodes bifunctional mitochondrial protein that has both RNA-binding and hydratase activities. The encoded protein is a methylglutaconyl-CoA hydratase that catalyzes the hydration of 3-methylglutaconyl-CoA to 3-hydroxy-3-methyl-glutaryl-CoA, a critical step in the leucine degradation pathway. This protein also binds AU-rich elements (AREs) found in the 3' UTRs of rapidly decaying mRNAs including c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. This protein is localizes to the mitochondrial matrix and the inner mitochondrial membrane and may be involved in mitochondrial protein synthesis. Mutations in this gene are the cause of 3-methylglutaconic aciduria, type I. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

Uniprot Accession IDs

• Q13825
• B1ALV7
• B1ALV8
• Q8WUE4

Gene Name

• AUH

Ensembl ID

• ENST00000303617
• ENSP00000307334
• ENSG00000148090
• ENST00000375731
• ENSP00000364883

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
transcription factor perturbation	0.96
disease perturbation	0.93
virus perturbation	0.88
kinase perturbation	0.84
cell type or tissue	0.79

Protein Classes

PANTHER Classes

Protein / Transferase / Acyltransferase / Methylglutaconyl-coa Hydratase, Mitochondrial

Protein / Transferase / Acetyltransferase / Methylglutaconyl-coa Hydratase, Mitochondrial

Protein / Oxidoreductase / Dehydrogenase / Methylglutaconyl-coa Hydratase, Mitochondrial

Protein / Lyase / Hydratase / Methylglutaconyl-coa Hydratase, Mitochondrial

Protein / Ligase / Methylglutaconyl-coa Hydratase, Mitochondrial

Protein / Isomerase / Epimerase/racemase / Methylglutaconyl-coa Hydratase, Mitochondrial

DTO Classes

Protein / Enzyme / Isomerase / Epimerase/racemase / Methylglutaconyl-coa Hydratase, Mitochondrial

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 60.19   (req: < 5)

Gene RIFs: 8   (req: <= 3)

Antibodies: 134   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 60.19   (req: >= 5)

Gene RIFs: 8   (req: > 3)

Antibodies: 134   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Expression Data (0 Tissues)

tutorial

No expression data found

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Related Tools (4)

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (66)

Explore Interacting Targets

1 – 10 of 66

• See Interactions on String-DB

ECHDC2

Tdark

Family:  Enzyme

Novelty:  0.50396935

p_int:  0.999999999

p_ni:  1e-9

Score:  0.276

Data Source:  BioPlex,STRINGDB

HINT2

Tbio

Novelty:  0.09560851

p_int:  0.999964835

p_ni:  0.000033797

p_wrong:  0.000001367

Data Source:  BioPlex

ATP5F1D

Tbio

Family:  Enzyme

Novelty:  0.07296539

p_int:  0.999497627

p_ni:  0.000257201

p_wrong:  0.000245172

Score:  0.261

Data Source:  BioPlex,STRINGDB

OXLD1

Tdark

Family:  Enzyme

Novelty:  23

p_int:  0.999473517

p_ni:  0.000259158

p_wrong:  0.000267326

Score:  0.183

Data Source:  BioPlex,STRINGDB

MRPL21

Tdark

Novelty:  0.56552559

p_int:  0.994685451

p_ni:  0.000047031

p_wrong:  0.005267517

Score:  0.208

Data Source:  BioPlex,STRINGDB

BPNT1

Tbio

Family:  Enzyme

Novelty:  0.1114547

p_int:  0.933512601

p_ni:  0.000760558

p_wrong:  0.065726841

Data Source:  BioPlex

MCCC2

Tbio

Family:  Enzyme

Novelty:  0.06681335

Score:  0.963

Data Source:  STRINGDB

HMGCLL1

Tbio

Family:  Enzyme

Novelty:  0.13131046

Score:  0.959

Data Source:  STRINGDB

HMGCL

Tbio

Family:  Enzyme

Novelty:  0.02741994

Score:  0.958

Data Source:  STRINGDB

HMGCS2

Tbio

Family:  Enzyme

Novelty:  0.0103808

Score:  0.94

Data Source:  STRINGDB

Nearest Tclin Targets (2)

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Downstream (2)

1 – 2 of 2

ALDH2

Tclin

Family:  Enzyme

KEGG Distance:  3

Common Pathways:  2

1: Metabolic pathways

2: Valine, leucine and isoleucine degradation

ABAT

Tclin

Family:  Enzyme

KEGG Distance:  3

Common Pathways:  2

1: Metabolic pathways

2: Valine, leucine and isoleucine degradation

Pathways (16)

Reactome (3)

KEGG (2)

PathwayCommons (1)

UniProt (1)

WikiPathways (9)

Branched-chain amino acid catabolism (R-HSA-70895)

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Find Similar Targets

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5

1 – 3 of 3

Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Branched-chain amino acid catabolism	19 targets	R-HSA-70895
Reactome	Metabolism	2112 targets	R-HSA-1430728
Reactome	Metabolism of amino acids and derivatives	373 targets	R-HSA-71291

Name	Explore in Pharos	Explore in Source
Branched-chain amino acid catabolism	19 targets	R-HSA-70895
Metabolism	2112 targets	R-HSA-1430728
Metabolism of amino acids and derivatives	373 targets	R-HSA-71291

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (9)

Functions (4)

Components (2)

Processes (3)

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1 – 4 of 4

GO Term	Evidence	Assigned by
methylglutaconyl-CoA hydratase activity	Inferred from Experiment (EXP)	Reactome
enoyl-CoA hydratase activity	Inferred from Direct Assay (IDA)	UniProtKB
mRNA 3'-UTR binding	Inferred from Direct Assay (IDA)	UniProtKB
itaconyl-CoA hydratase activity	Inferred from Electronic Annotation (IEA)	UniProtKB-EC

Disease Associations (null)

No disease associations found

GWAS Traits (21)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 21

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
eosinophil count	EFO_0004842	3	3	3		91
eosinophil percentage of leukocytes	EFO_0007991	2	2	2		76.7
bilirubin measurement	EFO_0004570	3	2	3		67.1
BMI-adjusted waist-hip ratio	EFO_0007788	2	2	2		63.4
sum of eosinophil and basophil counts	EFO_0009389	1	1	1		56.8

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 21

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
eosinophil count	EFO_0004842	3		91
eosinophil percentage of leukocytes	EFO_0007991	2		76.7
bilirubin measurement	EFO_0004570	3		67.1
BMI-adjusted waist-hip ratio	EFO_0007788	2		63.4
sum of eosinophil and basophil counts	EFO_0009389	1		56.8

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Acetylation
Alternative splicing
Branched-chain amino acid catabolism
Complete proteome
Direct protein sequencing
Disease mutation
Lyase
Mitochondrion
Reference proteome

GWAS Trait Find Similar Targets

No Header	No Header
balding measurement
bilirubin measurement
BMI-adjusted waist-hip ratio
body mass index
eosinophil count
eosinophil percentage of granulocytes
eosinophil percentage of leukocytes
gestational blood glucose measurement
Glycosuria
high density lipoprotein cholesterol measurement

MGI Phenotype Find Similar Targets

No Header	No Header
skeleton phenotype

IDG Resources

No IDG generated resources found

Orthologs (12)

1 – 5 of 12

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	AU RNA binding methylglutaconyl-CoA hydratase	VGNC:13856	464587
Macaque	AU RNA binding methylglutaconyl-CoA hydratase		704542
Mouse	AU RNA binding protein/enoyl-coenzyme A hydratase	MGI:1338011	11992
Rat	AU RNA binding methylglutaconyl-CoA hydratase	RGD:1306087	361215
Dog	AU RNA binding methylglutaconyl-CoA hydratase	VGNC:38308	476348

Species	Name	OMA	EggNOG	Inparanoid
Chimp	AU RNA binding methylglutaconyl-CoA hydratase
Macaque	AU RNA binding methylglutaconyl-CoA hydratase
Mouse	AU RNA binding protein/enoyl-coenzyme A hydratase
Rat	AU RNA binding methylglutaconyl-CoA hydratase
Dog	AU RNA binding methylglutaconyl-CoA hydratase

Publication Statistics

PubMed Score 60.19

PubMed score by year

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PubTator Score 69.91

PubTator score by year

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Related Publications

Text Mined References (23)

GeneRif Annotations (8)

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PMID	Year	Title