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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	549
Gene name Gene Name - the full gene name approved by the HGNC.	AU RNA binding methylglutaconyl-CoA hydratase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AUH
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q22.31
Summary Summary of gene provided in NCBI Entrez Gene.	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(11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003730	Function	MRNA 3'-UTR binding	IDA	7892223
GO:0004300	Function	Enoyl-CoA hydratase activity	IBA	21873635
GO:0004300	Function	Enoyl-CoA hydratase activity	IDA	7892223
GO:0004490	Function	Methylglutaconyl-CoA hydratase activity	IEA
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	ISS
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006552	Process	Leucine catabolic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IBA	21873635
GO:0009083	Process	Branched-chain amino acid catabolic process	TAS
GO:0050011	Function	Itaconyl-CoA hydratase activity	IEA

MIM	HGNC	e!Ensembl
600529	890	ENSG00000148090

Protein

UniProt ID

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

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
3-methylglutaconic aciduria	3-@METHYLGLUTACONIC ACIDURIA, TYPE I	rs137854888, rs80356523, rs80356526, rs121434636, rs730880309, rs730880310, rs730880311, rs730880312, rs199474657, rs1603377590, rs104894941, rs2147483647, rs132630277, rs1603377747, rs1603376833 View all (64 more)	12434311, 27604308, 12655555, 6181239, 17130438, 16354225, 15033206, 16640564, 28438368, 20855850, 21840233
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Febrile seizures	Febrile Convulsions	rs121909761, rs121909672, rs121909673, rs121909674, rs1561645243, rs267606837, rs796052510, rs1553553485, rs1554097890, rs1554101202, rs1554098226, rs765574676, rs1045493304
Leukoencephalopathy	Leukoencephalopathy	rs34757931
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Spastic tetraparesis	Spastic tetraparesis	ClinVar
3-Methylglutaconic aciduria	3-methylglutaconic aciduria type 1	GenCC
Diabetes	Diabetes	GWAS

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text Mining
3 Methylglutaconic Aciduria Type I	Associate	12434311, 16640564
Attention Deficit Disorder with Hyperactivity	Associate	35052433
Carcinoma Renal Cell	Associate	30793530

AUH (AU RNA binding methylglutaconyl-CoA hydratase)