Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	549
Gene name	AU RNA binding methylglutaconyl-CoA hydratase
Gene symbol	AUH
Synonyms (NCBI Gene)	-
Chromosome	9
Chromosome location	9q22.31
Summary	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 c

Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434636	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs146227896	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs200030276	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906755	C>T	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs387906756	C>T	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs730880309	C>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant, intron variant
rs730880310	C>-	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs730880311	T>C	Pathogenic	Splice acceptor variant
rs730880312	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs748318386	G>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs755299132	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs863223913	G>A,T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, downstream transcript variant
rs1554708417	->G	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1587799880	T>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1587943560	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant

Show/Hide all (78)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021347	hsa-miR-9-5p	Microarray	17612493
MIRT047037	hsa-miR-183-5p	CLASH	23622248
MIRT812080	hsa-miR-1284	CLIP-seq
MIRT812081	hsa-miR-23a	CLIP-seq
MIRT812082	hsa-miR-23b	CLIP-seq
MIRT812083	hsa-miR-23c	CLIP-seq
MIRT812084	hsa-miR-340	CLIP-seq
MIRT812085	hsa-miR-345	CLIP-seq
MIRT812086	hsa-miR-34b	CLIP-seq
MIRT812087	hsa-miR-3941	CLIP-seq
MIRT812088	hsa-miR-425	CLIP-seq
MIRT812089	hsa-miR-4256	CLIP-seq
MIRT812090	hsa-miR-4427	CLIP-seq
MIRT812091	hsa-miR-4517	CLIP-seq
MIRT812092	hsa-miR-4643	CLIP-seq
MIRT812093	hsa-miR-4652-3p	CLIP-seq
MIRT812094	hsa-miR-466	CLIP-seq
MIRT812095	hsa-miR-4661-5p	CLIP-seq
MIRT812096	hsa-miR-4672	CLIP-seq
MIRT812097	hsa-miR-4680-3p	CLIP-seq
MIRT812098	hsa-miR-4704-5p	CLIP-seq
MIRT812099	hsa-miR-4762-3p	CLIP-seq
MIRT812100	hsa-miR-4778-5p	CLIP-seq
MIRT812101	hsa-miR-4789-3p	CLIP-seq
MIRT812102	hsa-miR-4789-5p	CLIP-seq
MIRT812103	hsa-miR-586	CLIP-seq
MIRT812104	hsa-miR-602	CLIP-seq
MIRT812080	hsa-miR-1284	CLIP-seq
MIRT812081	hsa-miR-23a	CLIP-seq
MIRT812082	hsa-miR-23b	CLIP-seq
MIRT812083	hsa-miR-23c	CLIP-seq
MIRT1940193	hsa-miR-3180-5p	CLIP-seq
MIRT812084	hsa-miR-340	CLIP-seq
MIRT812085	hsa-miR-345	CLIP-seq
MIRT812089	hsa-miR-4256	CLIP-seq
MIRT812090	hsa-miR-4427	CLIP-seq
MIRT812093	hsa-miR-4652-3p	CLIP-seq
MIRT812095	hsa-miR-4661-5p	CLIP-seq
MIRT812097	hsa-miR-4680-3p	CLIP-seq
MIRT812098	hsa-miR-4704-5p	CLIP-seq
MIRT812099	hsa-miR-4762-3p	CLIP-seq
MIRT812100	hsa-miR-4778-5p	CLIP-seq
MIRT812102	hsa-miR-4789-5p	CLIP-seq
MIRT1940194	hsa-miR-520a-5p	CLIP-seq
MIRT1940195	hsa-miR-525-5p	CLIP-seq
MIRT1940196	hsa-miR-556-3p	CLIP-seq
MIRT812080	hsa-miR-1284	CLIP-seq
MIRT812084	hsa-miR-340	CLIP-seq
MIRT812085	hsa-miR-345	CLIP-seq
MIRT812086	hsa-miR-34b	CLIP-seq
MIRT2179091	hsa-miR-3668	CLIP-seq
MIRT2179092	hsa-miR-3924	CLIP-seq
MIRT812088	hsa-miR-425	CLIP-seq
MIRT812089	hsa-miR-4256	CLIP-seq
MIRT812090	hsa-miR-4427	CLIP-seq
MIRT812091	hsa-miR-4517	CLIP-seq
MIRT812093	hsa-miR-4652-3p	CLIP-seq
MIRT812095	hsa-miR-4661-5p	CLIP-seq
MIRT812097	hsa-miR-4680-3p	CLIP-seq
MIRT812098	hsa-miR-4704-5p	CLIP-seq
MIRT812099	hsa-miR-4762-3p	CLIP-seq
MIRT812100	hsa-miR-4778-5p	CLIP-seq
MIRT812102	hsa-miR-4789-5p	CLIP-seq
MIRT812103	hsa-miR-586	CLIP-seq
MIRT2444493	hsa-miR-103a	CLIP-seq
MIRT2444494	hsa-miR-107	CLIP-seq
MIRT2444495	hsa-miR-155	CLIP-seq
MIRT2444496	hsa-miR-590-3p	CLIP-seq
MIRT2444493	hsa-miR-103a	CLIP-seq
MIRT2444494	hsa-miR-107	CLIP-seq
MIRT2444495	hsa-miR-155	CLIP-seq
MIRT2444496	hsa-miR-590-3p	CLIP-seq
MIRT2482550	hsa-miR-133a	CLIP-seq
MIRT2482551	hsa-miR-133b	CLIP-seq
MIRT2482552	hsa-miR-412	CLIP-seq
MIRT2482553	hsa-miR-4686	CLIP-seq
MIRT2482554	hsa-miR-767-3p	CLIP-seq
MIRT2482555	hsa-miR-9	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	IEA
GO:0003730	Function	MRNA 3'-UTR binding	IDA	7892223
GO:0003824	Function	Catalytic activity	IEA
GO:0004300	Function	Enoyl-CoA hydratase activity	IBA
GO:0004300	Function	Enoyl-CoA hydratase activity	IDA	7892223
GO:0004300	Function	Enoyl-CoA hydratase activity	IEA
GO:0004490	Function	Methylglutaconyl-CoA hydratase activity	IDA	16640564
GO:0004490	Function	Methylglutaconyl-CoA hydratase activity	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006552	Process	L-leucine catabolic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IBA
GO:0009083	Process	Branched-chain amino acid catabolic process	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0050011	Function	Itaconyl-CoA hydratase activity	IEA

MIM	HGNC	e!Ensembl
600529	890	ENSG00000148090

Q13825

Protein name

Methylglutaconyl-CoA hydratase, mitochondrial (3-MG-CoA hydratase) (EC 4.2.1.18) (AU-specific RNA-binding enoyl-CoA hydratase) (AU-binding protein/enoyl-CoA hydratase) (Itaconyl-CoA hydratase) (EC 4.2.1.56)

Protein 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 cata

PDB

1HZD , 2ZQQ , 2ZQR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00378	ECH_1	84 → 339	Enoyl-CoA hydratase/isomerase	Domain

Sequence

MAAAVAAAPGALGSLHAGGARLVAACSAWLCPGLRLPGSLAGRRAGPAIWAQGWVPAAGG
PAPKRGYSSEMKTEDELRVRHLEEENRGIVVLGINRAYGKNSLSKNLIKMLSKAVDALKS
DKKVRTIIIRSEVPGIFCAGADLKERAKMSSSEVGPFVSKIRAVINDIANLPVPTIAAID
GLALGGGLELALACDIRVAASSAKMGLVETKLAIIPGGGGTQRLPRAIGMSLAKELIFSA
RVLDGKEAKAVGLISHVLEQNQEGDAAYRKALDLAREFLPQGPVAMRVAKLAINQGMEVD
LVTGLAIEEACYAQTIPTKDRLEGLLAFKEKRPPRYKGE

Sequence length

339

Interactions

View interactions

	KEGG		Reactome
	Valine, leucine and isoleucine degradation Metabolic pathways		Branched-chain amino acid catabolism

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
3-methylglutaconic aciduria type 1	Likely pathogenic; Pathogenic	rs757748207, rs1040881767, rs773652620, rs751318305, rs781142774, rs200212229, rs2132128897, rs748318386, rs121434636, rs730880309, rs730880310, rs730880311, rs730880312, rs2538311353, rs2538069355 View all (8 more)	RCV001379003 RCV001806387 RCV001806388 RCV001808836 RCV001982466 View all (18 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AUH-related disorder	Likely pathogenic; Pathogenic	rs730880312	RCV003944810	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (30)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
3-@METHYLGLUTACONIC ACIDURIA, TYPE I	3-Methylglutaconic aciduria	BEFREE	12434311, 12655555, 16640564, 23355087, 28438368		★★★★★ ★☆☆☆☆ Found in Text Mining only
3-@METHYLGLUTACONIC ACIDURIA, TYPE I	3-Methylglutaconic aciduria	ORPHANET_DG	12434311, 12655555		★★★★★ ★☆☆☆☆ Found in Text Mining only
3-@METHYLGLUTACONIC ACIDURIA, TYPE I	3-Methylglutaconic aciduria	CLINVAR_DG	12434311, 12655555		★★★★★ ★☆☆☆☆ Found in Text Mining only
3-@METHYLGLUTACONIC ACIDURIA, TYPE I	3-Methylglutaconic aciduria	CLINGEN_DG	12434311, 12655555, 15033206, 16354225, 16640564, 17130438, 20855850, 21840233, 28438368		★★★★★ ★☆☆☆☆ Found in Text Mining only
3-@METHYLGLUTACONIC ACIDURIA, TYPE I	3-Methylglutaconic aciduria	UNIPROT_DG	12655555		★★★★★ ★☆☆☆☆ Found in Text Mining only
3-@METHYLGLUTACONIC ACIDURIA, TYPE I	3-Methylglutaconic aciduria	GENOMICS_ENGLAND_DG	27604308, 6181239		★★★★★ ★☆☆☆☆ Found in Text Mining only
3-@METHYLGLUTACONIC ACIDURIA, TYPE I	3-Methylglutaconic aciduria	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	BEFREE	25111118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	35052433	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	30793530	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of butyryl-CoA dehydrogenase	Deficiency Of Butyryl-CoA Dehydrogenase	BEFREE	25111118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	12655555, 15033206, 16354225, 20855850		★★★★★ ★☆☆☆☆ Found in Text Mining only
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2	Kyphoscoliotic Ehlers-Danlos Syndrome	BEFREE	25111118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Isobutyryl-CoA dehydrogenase deficiency	Isobutyryl-CoA Dehydrogenase Deficiency	BEFREE	25111118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kohlschutter Tonz syndrome	Kohlschutter syndrome	BEFREE	25111118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	LHGDN	16640564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Smith-Lemli-Opitz Syndrome	Smith-Lemli-Opitz Syndrome	BEFREE	25111118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

AUH (AU RNA binding methylglutaconyl-CoA hydratase)