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    AUH AU RNA binding methylglutaconyl-CoA hydratase [ Homo sapiens (human) ]

    Gene ID: 549, updated on 2-Nov-2024

    Summary

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    Official Symbol
    AUHprovided by HGNC
    Official Full Name
    AU RNA binding methylglutaconyl-CoA hydrataseprovided by HGNC
    Primary source
    HGNC:HGNC:890
    See related
    Ensembl:ENSG00000148090 MIM:600529; AllianceGenome:HGNC:890
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    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 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]
    Expression
    Ubiquitous expression in kidney (RPKM 3.8), prostate (RPKM 3.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AUH in Genome Data Viewer
    Location:
    9q22.31
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (91213823..91361918, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (103379966..103528055, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (93976105..94124200, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2937 Neighboring gene long intergenic non-protein coding RNA 484 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr9:93909043-93909610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28583 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28584 Neighboring gene Sharpr-MPRA regulatory region 1412 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109153 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109154 Neighboring gene Sharpr-MPRA regulatory region 6399 Neighboring gene uncharacterized LOC124902208 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:93956125-93956992 Neighboring gene Sharpr-MPRA regulatory region 9930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28586 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:93979563-93980163 Neighboring gene Sharpr-MPRA regulatory region 15085 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109225 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109279 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr9:94076941-94077442 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr9:94077443-94077942 Neighboring gene NANOG hESC enhancer GRCh37_chr9:94106111-94106766 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20025 Neighboring gene MPRA-validated peak7289 silencer Neighboring gene uncharacterized LOC124902209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20026 Neighboring gene synapsin-1 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:94188762-94188958 Neighboring gene nuclear factor, interleukin 3 regulated

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. 3-methylglutaconic aciduria type I in a boy with fever-associated seizures. Illsinger S, et al. Pediatr Neurol, 2004 Mar. PMID 15033206
    2. AU-rich RNA-binding induces changes in the quaternary structure of AUH. Kurimoto K, et al. Proteins, 2009 May 1. PMID 18831052
    3. Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion. Mercimek-Mahmutoglu S, et al. Mol Genet Metab, 2011 Nov. PMID 21840233
    4. Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism. Mack M, et al. FEBS J, 2006 May. PMID 16640564
    5. Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Ly TB, et al. Hum Mutat, 2003 Apr. PMID 12655555

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AUH localizes to the inner mitochondrial membrane and matrix where it associates with mitochondrial ribosomes and regulates protein synthesis.
      Title: A bifunctional protein regulates mitochondrial protein synthesis.
    2. Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel deletion of exons 1-3 within the AUH gene.
      Title: Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion.
    3. The AUH trimer dimerizes upon binding to one molecule of a long RNA containing 24 repeats of the AUUU motif, (AUUU)(24)A.
      Title: AU-rich RNA-binding induces changes in the quaternary structure of AUH.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    5. Human 3-methylglutaconyl-CoA hydratase is identical with RNA-binding protein (AUH); molecular analyses of MGA1 patients show homozygosity or compound heterozygosity for mutations in AUH.
      Title: Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.
    6. 3-Methylglutaconic aciduria type I is caused by mutations in AUH
      Title: 3-Methylglutaconic aciduria type I is caused by mutations in AUH.
    7. Mutations in the AUH gene are linked to metabolic disease 3-methylglutaconic aciduria type I (MGA1).
      Title: Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism.
    8. Mutation analysis in the AUH gene revealed homozygosity for a novel splice site mutation IVS9-2A>G. We conclude that MGA1 may be associated with fever-associated seizures even in children without delayed psychomotor development.
      Title: 3-methylglutaconic aciduria type I in a boy with fever-associated seizures.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    3-methylglutaconic aciduria type 1
    MedGen: C0342727 OMIM: 250950 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study for diabetic nephropathy genes in African Americans.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enoyl-CoA hydratase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables enoyl-CoA hydratase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables itaconyl-CoA hydratase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables mRNA 3'-UTR binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables methylglutaconyl-CoA hydratase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in L-leucine catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fatty acid beta-oxidation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    methylglutaconyl-CoA hydratase, mitochondrial
    Names
    3-MG-CoA hydratase
    3-methylglutaconyl-CoA hydratase
    AU RNA binding protein/enoyl-CoA hydratase
    AU RNA-binding protein/enoyl-Coenzyme A hydratase
    AU-binding protein/Enoyl-CoA hydratase
    AU-specific RNA-binding enoyl-CoA hydratase
    itaconyl-CoA hydratase
    NP_001293119.1
    NP_001338360.1
    NP_001338361.1
    NP_001338362.1
    NP_001689.1
    XP_005252123.1
    XP_005252124.1
    XP_005252126.1
    XP_005252129.1
    XP_006717213.1
    XP_011517102.1
    XP_011517105.1
    XP_016870338.1
    XP_047279481.1
    XP_047279482.1
    XP_047279483.1
    XP_047279484.1
    XP_047279485.1
    XP_047279486.1
    XP_054219127.1
    XP_054219128.1
    XP_054219129.1
    XP_054219130.1
    XP_054219131.1
    XP_054219132.1
    XP_054219133.1
    XP_054219134.1
    XP_054219135.1
    XP_054219136.1
    XP_054219137.1
    XP_054219138.1
    XP_054219139.1
    XP_054219140.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008017.1 RefSeqGene

      Range
      4956..153110
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_449

    mRNA and Protein(s)

    1. NM_001306190.2 → NP_001293119.1  methylglutaconyl-CoA hydratase, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_001293119.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AV751432, BC020722, BI667104
      Consensus CDS
      CCDS78409.1
      UniProtKB/Swiss-Prot
      Q13825
      Related
      ENSP00000307334.5, ENST00000303617.5
      Conserved Domains (1) summary
      cl23717
      Location:86 → 310
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

    2. NM_001351431.2 → NP_001338360.1  methylglutaconyl-CoA hydratase, mitochondrial isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate exon in the 5' region, resulting in a distinct 5' UTR, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) lacks the transit peptide found in isoform 1 and is shorter at the N-terminus compared to isoform 1. Variants 3 and 4 encode the same protein (isoform 3).
      Source sequence(s)
      AV751432, BG706374, BI667104, DA724873, HY155647, X79888
      Conserved Domains (1) summary
      cl23717
      Location:2 → 230
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

    3. NM_001351432.2 → NP_001338361.1  methylglutaconyl-CoA hydratase, mitochondrial isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate exon in the 5' region, resulting in a distinct 5' UTR, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) lacks the transit peptide found in isoform 1 and is shorter at the N-terminus compared to isoform 1. Variants 3 and 4 encode the same protein (isoform 3).
      Source sequence(s)
      AV751432, BG333092, BG706374, BI667104, DA724873, X79888
      Conserved Domains (1) summary
      cl23717
      Location:2 → 230
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

    4. NM_001351433.2 → NP_001338362.1  methylglutaconyl-CoA hydratase, mitochondrial isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate exon in the 5' region, resulting in a distinct 5' UTR, initiates translation at a downstream start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (4) lacks the transit peptide found in isoform 1, is shorter at the N-terminus and lacks an internal segment compared to isoform 1.
      Source sequence(s)
      AV751432, BG706374, BI667104, BM728035, DA724873, HY155647, X79888
      Conserved Domains (1) summary
      cl23717
      Location:2 → 214
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

    5. NM_001698.3 → NP_001689.1  methylglutaconyl-CoA hydratase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_001689.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AV751432, BG706374, DA724873, X79888
      Consensus CDS
      CCDS6689.1
      UniProtKB/Swiss-Prot
      B1ALV7, B1ALV8, Q13825, Q8WUE4
      Related
      ENSP00000364883.5, ENST00000375731.9
      Conserved Domains (1) summary
      cl23717
      Location:86 → 339
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      91213823..91361918 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423525.1 → XP_047279481.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X6

    2. XM_017014849.2 → XP_016870338.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X3

    3. XM_006717150.4 → XP_006717213.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X4

      Conserved Domains (1) summary
      cl23717
      Location:99 → 320
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

    4. XM_005252067.5 → XP_005252124.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl23717
      Location:99 → 333
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

    5. XM_005252066.4 → XP_005252123.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X1

      Conserved Domains (1) summary
      cl23717
      Location:99 → 349
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

    6. XM_047423528.1 → XP_047279484.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X11

    7. XM_047423527.1 → XP_047279483.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X10

    8. XM_047423530.1 → XP_047279486.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X13

    9. XM_047423526.1 → XP_047279482.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X7

    10. XM_005252069.5 → XP_005252126.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X5

      Conserved Domains (1) summary
      cl23717
      Location:99 → 287
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

    11. XM_047423529.1 → XP_047279485.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X12

    12. XM_005252072.3 → XP_005252129.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X9

      See identical proteins and their annotated locations for XP_005252129.1

      UniProtKB/TrEMBL
      B4DYI6
      Conserved Domains (1) summary
      cl23717
      Location:86 → 217
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

    13. XM_011518800.4 → XP_011517102.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X8

      Conserved Domains (1) summary
      cl23717
      Location:99 → 227
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

    14. XM_011518803.3 → XP_011517105.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X14

      Conserved Domains (1) summary
      cl23717
      Location:99 → 149
      crotonase-like; Crotonase/Enoyl-Coenzyme A (CoA) hydratase superfamily. This superfamily contains a diverse set of enzymes including enoyl-CoA hydratase, napthoate synthase, methylmalonyl-CoA decarboxylase, 3-hydoxybutyryl-CoA dehydratase, and dienoyl-CoA isomerase. ...

    RNA

    1. XR_007061324.1 RNA Sequence

    2. XR_007061323.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      103379966..103528055 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363157.1 → XP_054219132.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X6

    2. XM_054363154.1 → XP_054219129.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X3

    3. XM_054363155.1 → XP_054219130.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X4

    4. XM_054363153.1 → XP_054219128.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X2

    5. XM_054363152.1 → XP_054219127.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X1

    6. XM_054363162.1 → XP_054219137.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X11

    7. XM_054363161.1 → XP_054219136.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X10

    8. XM_054363164.1 → XP_054219139.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X13

    9. XM_054363158.1 → XP_054219133.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X7

    10. XM_054363156.1 → XP_054219131.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X5

    11. XM_054363163.1 → XP_054219138.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X12

    12. XM_054363159.1 → XP_054219134.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X8

    13. XM_054363160.1 → XP_054219135.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X9

      UniProtKB/TrEMBL
      B4DYI6

    14. XM_054363165.1 → XP_054219140.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X14

    RNA

    1. XR_008488037.1 RNA Sequence

    2. XR_008488036.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13825.1 GenPept UniProtKB/Swiss-Prot:Q13825

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