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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

AUH Gene

protein-coding GIFtS: 61
GCID: GC09M093976

AU RNA binding protein/enoyl-CoA hydratase

(Previous names: AU RNA-binding protein/enoyl-Coenzyme A hydratase, AU RNA...)

Explore 16 diseases affiliated with
AUH via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
AU RNA Binding Protein/Enoyl-CoA Hydratase¹ ²		AU-Specific RNA-Binding Enoyl-CoA Hydratase² ³
AU RNA Binding Protein/Enoyl-Coenzyme A Hydratase¹ ²		3-Methylglutaconyl-CoA Hydratase²
AU RNA-Binding Protein/Enoyl-Coenzyme A Hydratase¹ ²		Methylglutaconyl-CoA Hydratase, Mitochondrial²
AU-Binding Protein/Enoyl-CoA Hydratase² ³		EC 4.2.1.18³

External Ids:	HGNC: 890¹	Entrez Gene: 549²	Ensembl: ENSG00000148090⁷	OMIM: 600529⁵	UniProtKB: Q13825³

Export aliases for AUH gene to outside databases

Previous GC identifers: GC09M084815 GC09M085704 GC09M087275 GC09M089317 GC09M091055 GC09M093015 GC09M063656

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AUH:

The methylglutaconyl-CoA hydratase, mitochondrial protein binds to the AU-rich element (ARE), a common element found in

the 3' UTR of rapidly decaying mRNA such as c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE

elements are involved in directing RNA to rapid degradation and deadenylation. AUH is also homologous to enol-CoA

hydratase, an enzyme involved in fatty acid degradation, and has been shown to have intrinsic hydratase enzymatic

activity. AUH is thus a bifunctional chimera between RNA binding and metabolic enzyme activity. A possible subcellular

localization in the mitochondria has been demonstrated for the mouse homolog of this protein which shares 92% identity

with the human protein. It has been suggested that AUH may have a novel role as a mitochondrial located AU-binding

protein. Human AUH is expressed as a single mRNA species of 1.8 kb, and translated as a 40-kDa precursor protein which

is subsequently processed to a 32-kDa mature form. (provided by RefSeq, May 2010)

UniProtKB/Swiss-Prot: AUHM_HUMAN, Q13825

Function: 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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 NT_008470.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the AUH gene promoter:
ISGF-3 AML1a POU3F2 (N-Oct-5b) POU3F2 (N-Oct-5a) RelA POU3F2 NF-kappaB FOXJ2 (long isoform) FOXJ2 NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AUH promoter sequence

Search SABiosciences Chromatin IP Primers for AUH

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AUH

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q22.31 Ensembl cytogenetic band: 9q22.31 HGNC cytogenetic band: 9q22

AUH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AUH gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M093976: view genomic region (about GC identifiers)

Start:	93,976,097 bp from pter	End:	94,124,206 bp from pter
Size:	148,110 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AUHM_HUMAN, Q13825 (See protein sequence)

Recommended Name: Methylglutaconyl-CoA hydratase, mitochondrial precursor

Size: 339 amino acids; 35609 Da

Subunit: Homohexamer

Subcellular location: Mitochondrion (By similarity)

3 PDB 3D structures from and Proteopedia for AUH:

1HZD (3D)

2ZQQ (3D)

2ZQR (3D)

Secondary accessions: B1ALV7 B1ALV8 Q8WUE4

Alternative splicing: 2 isoforms: Q13825-1 Q13825-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AUH: NX_Q13825

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q13825

AUH Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001689.1

ENSEMBL proteins:

ENSP00000364883 ENSP00000307334 ENSP00000402026

Reactome Protein details: Q13825
Human Recombinant Protein Products:

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	Novus Biologicals AUH Proteins Novus Biologicals AUH Lysate
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	ProSpec Recombinant Protein for AUH
	Uscn Proteins for AUH

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	ISS	--
GO:0005759	mitochondrial matrix	TAS	--

AUH for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for AUH

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

AUH for domains About GeneDecksing

3 InterPro domains/families:

IPR018376 Enoyl-CoA_hyd/isom_CS

IPR001753 Crotonase_core_superfam

IPR014748 Crontonase_C

Graphical View of Domain Structure for InterPro Entry Q13825

ProtoNet protein and cluster: Q13825

1 Blocks protein family: IPB001753 Enoyl-CoA hydratase/isomerase

UniProtKB/Swiss-Prot: AUHM_HUMAN, Q13825

Similarity: Belongs to the enoyl-CoA hydratase/isomerase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: AUHM_HUMAN, Q13825

Function: 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

Catalytic activity: (S)-3-hydroxy-3-methylglutaryl-CoA = trans-3-methylglutaconyl-CoA + H(2)O

Enzyme Number (IUBMB): EC 4.2.1.18¹

miRNA Products:		OriGene 3'-UTR Clone: AUH Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AUH
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate AUH (see all 11):
		hsa-miR-16-2* hsa-miR-130a* hsa-miR-944 hsa-miR-23c hsa-miR-410 hsa-miR-9 hsa-miR-23b hsa-miR-195*

		SwitchGear 3'UTR luciferase reporter plasmid: AUH 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AUH (see all 7) OriGene shRNA RFP: AUH OriGene siRNA: AUH
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for AUH

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		GenScript: all cDNA clones in your preferred vector: AUH (NM_001698)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for AUH
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AUH

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003723	RNA binding	--	--
GO:0003730	mRNA 3'-UTR binding	IDA	7892223
GO:0003824	catalytic activity	--	--
GO:0004300	enoyl-CoA hydratase activity	IDA	7892223
GO:0004490	methylglutaconyl-CoA hydratase activity	EXP	--

AUH for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Branched-chain amino acid catabolism

	Branched-chain amino acid catabolism	1.00			leucine degradation I	0.33
	Valine, leucine and isoleucine degradation	0.39

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Metabolism of amino acids and derivatives

Metabolism of amino acids and derivatives

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for AUH

leucine degradation I

3 Reactome Pathways for AUH

	Metabolism
	Metabolism of amino acids and derivatives
	Branched-chain amino acid catabolism

2 Kegg Pathways (Kegg details for AUH):

	Valine, leucine and isoleucine degradation
	Metabolic pathways

UniProtKB/Swiss-Prot: AUHM_HUMAN, Q13825

Pathway: Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step

3/3

AUH for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for AUH

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

5/7 Interacting proteins for AUH (ENSP00000364883⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HMGCL	ENSP00000363614⁴	STRING: ENSP00000363614
HMGCLL1	ENSP00000381654⁴	STRING: ENSP00000381654
HMGCS1	ENSP00000322706⁴	STRING: ENSP00000322706
MCCC1	ENSP00000265594⁴	STRING: ENSP00000265594
MCCC2	ENSP00000343657⁴	STRING: ENSP00000343657

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006402	mRNA catabolic process	IDA	7892223
GO:0006552	leucine catabolic process	IEA	--
GO:0009083	branched-chain amino acid catabolic process	TAS	--
GO:0034641	cellular nitrogen compound metabolic process	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

AUH for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

AUH for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for AUH

4 HMDB Compounds for AUH About this table

Compound	Synonyms	CAS #	PubMed Ids
3-Hydroxy-3-methylglutaryl-CoA	(S)-3-hydroxy-3-methylglutaryl-CoA (see all 15)	1553-55-5	--
3-Methylglutaconyl-CoA	3-Methylglutaconyl-CoA (see all 4)	6247-73-0	--
Ceramide (d18:1/16:0)	(2S,3R,4E)-2-acylamino-1,3-octadec-4-enediol (see all 6)	104404-17-3	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

6 Novoseek chemical compound relationships for AUH gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
3-methylglutaconyl-coa	99.6	26	15181004 (3), 16527507 (2), 12434311 (2), 16482430 (2) (see all 15)
3-methylglutaconic acid	97.6	1	15181004 (1)
beta-hydroxy-beta-methylbutyrate	85.5	1	15181004 (1)
3-methylcrotonyl-coa	83.1	1	7957389 (1)
3-hydroxy-3-methylglutaryl-coa	76.5	3	15181004 (1), 7691603 (1), 7957389 (1)
leucine	66.7	7	16640564 (2), 10070612 (1), 12434311 (1), 16736096 (1) (see all 5)

Search CenterWatch for drugs/clinical trials and news about AUH / AUHM

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for AUH gene:

NM_001698.2

Unigene Cluster for AUH:

AU RNA binding protein/enoyl-CoA hydratase

Hs.175905 [show with all ESTs]

Unigene Representative Sequence: AK124142

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000375731(uc004arf.4) ENST00000303617(uc004arg.4) ENST00000473695

ENST00000478465 ENST00000475023 ENST00000422391(uc011ltu.1)

miRNA Products:		OriGene 3'-UTR Clone: AUH Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AUH
		8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate AUH (see all 11):
		hsa-miR-16-2* hsa-miR-130a* hsa-miR-944 hsa-miR-23c hsa-miR-410 hsa-miR-9 hsa-miR-23b hsa-miR-195*

		SwitchGear 3'UTR luciferase reporter plasmid: AUH 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AUH (see all 7) OriGene shRNA RFP: AUH OriGene siRNA: AUH
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Additional cDNA sequence:

AK124142.1 AK302453.1 BC020722.1 X79888.1

13 DOTS entries:

DT.453783 DT.86841242 DT.97790206 DT.100768422 DT.40206162 DT.91710942 DT.95085644 DT.95374309

DT.75118186 DT.91710957 DT.95374306 DT.95374308 DT.97843135

24/102 AceView cDNA sequences (see all 102):

CR620952 BI820597 AA912910 AI880147 BX097370 AL706837 AA863298 AL699971

CD513902 BC020722 CB154595 BM724951 BU619100 BM728035 BM845105 AA905726

BF593916 BQ775902 AI880165 H93361 AA780780 AA340083 AA715211 BM503741

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for AUH About this scheme

ExUns:	1a	·	1b	^	2a	·	2b	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b	^	9	^	10	^	11a	·	11b	·	11c
SP1:											-
SP2:											-		-
SP3:																									-
SP4:

ECgene alternative splicing isoforms for AUH

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

AUH expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAACCTTAAT

About this image
See AUH Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AUH

SOURCE GeneReport for Unigene cluster: Hs.175905

SABiosciences Expression via Pathway-Focused PCR Array including AUH:

Amino Acid Metabolism I in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AUH

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for AUH gene from 7/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
chicken (Gallus gallus)	Aves	AUH¹	AU RNA binding protein/enoyl-CoA hydratase	76.09(n) 78.88(a)	427269 NM_001252606.1 NP_001239535.1
African clawed frog (Xenopus laevis)	Amphibia	CF342434.1²	--	78.03(n)	CF342434.1
zebrafish (Danio rerio)	Actinopterygii	auh¹	AU RNA binding protein/enoyl-Coenzyme A hydratase	67.76(n) 72(a)	445182 NM_001003576.1 NP_001003576.1
fruit fly (Drosophila melanogaster)	Insecta	CG8778^{1 , 3}	AU-specific RNA binding³ CG8778¹	61(a)³ 56.19(n)¹ 59.09(a)¹	49B12³ 36392¹ NM_136961.2¹ NP_610805.1¹
worm (Caenorhabditis elegans)	Secernentea	F56B3.5³ ech-5¹	Protein ECH-5¹	48(a)³ 51.3(n)¹ 49.38(a)¹	IV(797030-799611)³ 176908¹ NM_067592.3¹ NP_499993.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	AT4G16800¹	enoyl-CoA hydratase	51.62(n) 46.21(a)	827386 NM_117782.3 NP_193413.2
rice (Oryza sativa)	Liliopsida	Os02g0654100¹	hypothetical protein	53.42(n) 46.92(a)	4330184 NM_001054144.1 NP_001047609.1

ENSEMBL Gene Tree for AUH (if available)
TreeFam Gene Tree for AUH (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for AUH gene

ECHDC3² HADHA² ECHS1² HADH² EHHADH² ECHDC2² ECH1² ECHDC1²

2 SIMAP similar genes for AUH using alignment to 2 protein entries: AUHM_HUMAN (see all proteins):

ECHDC2 ECHS1

AUH for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs78778066^1,2	C,F,	--	63656365(+)	`ATGCAA/GTGATT`	1	--	ds500¹		1		WA	118
rs113687423^1,2	C,F,	--	63656738(+)	`CTTTAT/CAAATC`	1	--	ut3¹		3		CSA WA	123
rs75505223^1,2	C,	--	63656831(+)	`TGCTCT/CTCACT`	1	--	ut3¹		2		CSA WA	120
rs2892221^1,2	H	--	63657433(+)	`tatttT/Ggggtt`	1	--	int¹		4		NS EA	396
rs112370969^1,2	C,F,	--	63657623(+)	`GGCACG/ATACTC`	1	--	int¹		2		NA CSA	4
rs16907285^1,2	C,F,H,	--	63657633(+)	`CATCAA/GTGACA`	1	--	int¹		12		NA NS EA WA	924
rs61581483^1,2		--	63657981(+)	`CTCCTG/CTATAC`	1	--	int¹		2		CSA WA	120
rs77091995^1,2		--	63658258(+)	`TCAGAG/AGTTCA`	1	--	int¹		1		WA	118
rs78421223^1,2		--	63659196(+)	`ATAAAG/TTCAAT`	1	--	int¹		0	--	--	--	--
rs77744922^1,2	F,	--	63659538(+)	`AAATGC/TACAGA`	1	--	int¹		3		CSA WA	123

HapMap Linkage Disequilibrium report for AUH (93976097 - 94124206 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for AUH
2 CNVs: 100709 65454
Human Gene Mutation Database (HGMD): AUH

Locus Specific Mutation Databases (LSDB): AUH

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

AUH for disorders           About GeneDecksing

OMIM gene information: 600529
OMIM disorders: 250950
UniProtKB/Swiss-Prot: AUHM_HUMAN, Q13825

Defects in AUH are the cause of 3-methylglutaconic aciduria type 1 (MGA1) [MIM:250950]. MGA1 is an 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)

16 diseases for AUH: About MalaCards

3-methylglutaconic aciduria 3 methylglutaconic aciduria type i leigh-like syndrome cleft lip/palate

cleft lip lactic acidosis metabolic disorders optic atrophy

hypertrophic cardiomyopathy leigh disease cardiomyopathy cataract

seizures pneumonia tuberculosis mycobacterium tuberculosis

1 disease from the University of Copenhagen DISEASES database for AUH:

Optic atrophy

3 Novoseek disease relationships for AUH gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
metabolic disorder	55.7	1	10070612 (1)
acidosis lactic	48.2	1	16736096 (1)
developmental delay	41.4	1	16736096 (1)

Human Genome Epidemiology (HuGE) Navigator: AUH (2 documents)

Export disorders for AUH gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for AUH gene, integrated from 9 sources (see all 34):
(articles sorted by number of sources associating them with AUH)

Utopia: connect your pdf to the dynamic
world of online information

AUH, a gene encoding an AU-specific RNA binding protein with intrinsic enoyl-CoA hydratase activity. (PubMed id 7892223)^{1, 2, 3, 9} Nakagawa J....Moroni C. (1995)
Crystal structure of human AUH protein, a single-stranded RNA binding homolog of enoyl-CoA hydratase. (PubMed id 11738050)^{1, 2, 9} Kurimoto K.... Yokoyama S. (2001)
3-methylglutaconic aciduria type I is caused by mutations in AUH. (PubMed id 12434311)^{1, 2, 9} Ijlst L....Wanders R.J.A. (2002)
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. (PubMed id 12655555)^{1, 2, 9} Ly T.B.N.... Zschocke J. (2003)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
AU-rich RNA-binding induces changes in the quaternary structure of AUH. (PubMed id 18831052)^{1, 9} Kurimoto K....Yokoyama S. (2009)
Characterisation and mitochondrial localisation of AUH, an AU-specific RNA-binding enoyl-CoA hydratase. (PubMed id 10072761)^{1, 9} Brennan L.E....Moroni C. (1999)
Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism. (PubMed id 16640564)^{1, 9} Mack M....Zschocke J. (2006)
A 20-amino-acid autonomous RNA-binding domain contained in an enoyl-CoA hydratase. (PubMed id 9108262)^{1, 9} Nakagawa J. and Moroni C. (1997)
3-methylglutaconic aciduria type I in a boy with fever-associated seizures. (PubMed id 15033206)^{1, 9} Illsinger S....Das A.M. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 549	HGNC: 890	AceView: AUH	Ensembl:ENSG00000148090	euGenes: HUgn549
ECgene: AUH	Kegg: 549	H-InvDB: AUH

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for AUH	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AUH

Intellectual Property for AUH gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for AUH gene:
Search GeneIP for patents involving AUH

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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