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

    Gene ID: 549, updated on 8-Jul-2021

    Summary

    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
    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
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    Genomic context

    See AUH in Genome Data Viewer
    Location:
    9q22.31
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (91213823..91361945, complement)
    105.20201022 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 Sharpr-MPRA regulatory region 6399 Neighboring gene Sharpr-MPRA regulatory region 9930 Neighboring gene uncharacterized LOC105376146 Neighboring gene nuclear factor, interleukin 3 regulated Neighboring gene phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    3-Methylglutaconic aciduria type 1
    MedGen: C0342727 OMIM: 250950 GeneReviews: Not available
    Compare labs
    A genome-wide association study for diabetic nephropathy genes in African Americans.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in branched-chain amino acid catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fatty acid beta-oxidation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in leucine catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    methylglutaconyl-CoA hydratase, mitochondrial
    Names
    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001306190.2NP_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:86310
      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_001351431.2NP_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:2230
      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_001351432.2NP_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:2230
      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_001351433.2NP_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:2214
      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_001698.3NP_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
      Q13825
      Related
      ENSP00000364883.5, ENST00000375731.9
      Conserved Domains (1) summary
      cl23717
      Location:86339
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

      Range
      91213823..91361945 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (1) summary
      cl23717
      Location:99320
      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. XM_005252067.4XP_005252124.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X2

      Conserved Domains (1) summary
      cl23717
      Location:99333
      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. XM_005252066.3XP_005252123.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X1

      Conserved Domains (1) summary
      cl23717
      Location:99349
      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_017014849.1XP_016870338.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X3

    5. XM_005252069.4XP_005252126.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X5

      Conserved Domains (1) summary
      cl23717
      Location:99287
      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_005252072.2XP_005252129.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X7

      See identical proteins and their annotated locations for XP_005252129.1

      UniProtKB/TrEMBL
      B4DYI6
      Conserved Domains (1) summary
      cl23717
      Location:86217
      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. ...
    7. XM_011518800.3XP_011517102.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X6

      Conserved Domains (1) summary
      cl23717
      Location:99227
      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. ...
    8. XM_011518803.2XP_011517105.1  methylglutaconyl-CoA hydratase, mitochondrial isoform X8

      Conserved Domains (1) summary
      cl23717
      Location:99149
      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_001746328.2 RNA Sequence

    2. XR_001746329.2 RNA Sequence

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