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

Gene ID: 549, updated on 13-Feb-2019

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

Genomic context

See AUH in Genome Data Viewer
Location:
9q22.31
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (91213815..91361969, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (93976097..94124215, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507103 Neighboring gene uncharacterized LOC100129316 Neighboring gene long intergenic non-protein coding RNA 484 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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enoyl-CoA hydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enoyl-CoA hydratase activity IDA
Inferred from Direct Assay
more info
PubMed 
itaconyl-CoA hydratase activity IEA
Inferred from Electronic Annotation
more info
 
mRNA 3'-UTR binding IDA
Inferred from Direct Assay
more info
PubMed 
methylglutaconyl-CoA hydratase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
branched-chain amino acid catabolic process TAS
Traceable Author Statement
more info
 
fatty acid beta-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
leucine catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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_001306190.1NP_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_001351431.1NP_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_001351432.1NP_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_001351433.1NP_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_001698.2NP_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
    ENSP00000364883.4, ENST00000375731.8
    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 Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    91213815..91361969 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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