AUH - AU RNA binding methylglutaconyl-CoA hydratase Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 549

About AUH

Cytogenetic location: 9q22.31 Genomic coordinates (GRCh38): 9:91,213,823-91,361,918 (from NCBI)

This gene has 5 transcripts (splice variants), 221 orthologues, 13 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 3.8), prostate (RPKM 3.1) and 25 other tissues.

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]

AUH Products (5)

mRNA Protein Name
NM_001306190.2 NP_001293119.1 methylglutaconyl-CoA hydratase, mitochondrial isoform 2
NM_001351431.2 NP_001338360.1 methylglutaconyl-CoA hydratase, mitochondrial isoform 3
NM_001351432.2 NP_001338361.1 methylglutaconyl-CoA hydratase, mitochondrial isoform 3
NM_001351433.2 NP_001338362.1 methylglutaconyl-CoA hydratase, mitochondrial isoform 4
NM_001698.3 NP_001689.1 methylglutaconyl-CoA hydratase, mitochondrial isoform 1 precursor

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables enoyl-CoA hydratase activity IDA
IDA: Inferred from direct assay
7892223 GOA
enables mRNA 3'-UTR binding IDA
IDA: Inferred from direct assay
7892223 GOA
enables methylglutaconyl-CoA hydratase activity IDA
IDA: Inferred from direct assay
16640564 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AUH Protein Structure

ECH_1

ECH_1: Enoyl-CoA hydratase/isomerase (84 - 331)

  • 0
  • 100
  • 200
  • 300
  • 339 a.a.
Protein Preferred Names Protein Names

methylglutaconyl-CoA hydratase, mitochondrial

  • 3-MG-CoA hydratase

Related Diseases

Diseases Alias
3-Methylglutaconic Aciduria, Type I

  • 3-Methylglutaconyl-Coa Hydratase Deficiency

  • 3-Methylglutaconic Aciduria Type 1

  • Mga1

  • MGCA1

  • 3mg-Coa Hydratase Deficiency

  • Mga Type I

  • Mga, Type I

  • 3-Mg-Coa-Hydratase Deficiency

  • 3 Methylglutaconyl Coa Hydratase Deficiency

  • 3-Methylglutaconic Aciduria Type I

  • 3 Alpha Methylglutaconic Aciduria Type I

  • 3 Methylglutaconic Aciduria Type 1

  • 3-Mgca Type I

  • 3mg Coa Hydratase Deficiency

  • Auh Defect

  • Primary 3-Methylglutaconic Aciduria

  • 3-Methylglutaconic Aciduria 1

  • 3-Alpha-Methylglutaconic Aciduria Type 1

  • 3-Alpha-Methylglutaconyl-Coa Hydratase Deficiency

  • 3-@Methylglutaconic Aciduria, Type I

  • Megaloblastic Anemia Due To Inborn Errors Of Metabolism
3-Methylglutaconic Aciduria

  • 3-Methyl Glutaconic Aciduria
Lactic Acidosis

  • Acidosis, Lactic

  • Acidosis Lactic
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome

  • Megdel Syndrome

  • MEGDEL

  • Mgca6

  • 3-Methylglutaconic Aciduria With Dystonia-Deafness, Hepatopathy, Encephalopathy, And Leigh-Like Syndrome

  • Megdhel

  • 3-Methylglutaconic Aciduria, Type Vi

  • Serac1 Defect

  • 3-Methylglutaconic Aciduria Type 6

  • 3-Mgca Type Iv

  • 3-Mgca-4

  • 3-Methylglutaconic Aciduria Type Vi

  • 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy, And Leigh-Like Syndrome

  • Megdhel Syndrome

  • 3-Methylglutaconic Aciduria With Deafness-Encephalopathy-Leigh-Like Syndrome

  • 3-Methylglutaconic Aciduria With Hearing Loss-Encephalopathy-Leigh-Like Syndrome

  • 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, Leigh-Like Syndrome

  • 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome
3-Methylglutaconic Aciduria, Type Iv

  • 3-Methylglutaconic Aciduria Type 4

  • Mga4

  • MGCA4

  • 3-Methylglutaconic Aciduria Type Iv

  • Mga, Type Iv

  • Mga Type Iv

  • Not Otherwise Specified 3-Mga-Uria Type

  • 3 Alpha Methylglutaconic Aciduria Type Iv

  • 3 Methylglutaconic Aciduria Type Iv
3-Methylglutaconic Aciduria, Type Iii

  • Optic Atrophy

  • 3-Methylglutaconic Aciduria Type 3

  • Costeff Syndrome

  • Mga3

  • Costeff Optic Atrophy Syndrome

  • Optic Atrophy Plus Syndrome

  • Infantile Optic Atrophy With Chorea And Spastic Paraplegia

  • 3-Methylglutaconic Aciduria Type Iii

  • Autosomal Recessive Optic Atrophy Plus Syndrome

  • Autosomal Recessive Optic Atrophy Type 3

  • Opa3 Defect

  • MGCA3

  • Mga, Type Iii

  • Iraqi Jewish Optic Atrophy Plus

  • Mga Type Iii

  • Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

  • Iraqi-Jewish 'Optic Atrophy Plus'

  • Optic Atrophy 3, Autosomal Recessive

  • Opa3, Autosomal Recessive

  • Opa3-Related 3-Methylglutaconic Aciduria

  • Iraqi-Jewish Optic Atrophy Plus

  • Atrophy Of Optic Disc

  • 3-Alpha Methylglutaconic Aciduria Type Iii

  • Optic Atrophy 3

  • Optic Atrophy Infantile With Chorea And Spastic Paraplegia

  • Autosomal Recessive Opa3

  • Autosomal Recessive Optic Atrophy 3

  • 3-Methylglutaconic Aciduria 3

  • 3-Alpha-Methylglutaconic Aciduria Type 3

  • Optic Atrophy 3 Autosomal Recessive

  • Atrophy, Optic

  • Atrophy, Optic, Plus Syndrome

  • Optic Nerve Atrophy

  • Primary Optic Atrophy

  • Oa - [Optic Atrophy]

  • Second Cranial Nerve Atrophy

  • Second Cranium Nerve Atrophy
3-Methylglutaconic Aciduria, Type V

  • 3-Methylglutaconic Aciduria Type 5

  • Mga5

  • MGCA5

  • Dcma

  • Dcma Syndrome

  • Dilated Cardiomyopathy With Ataxia

  • 3-Methylglutaconic Aciduria Type V

  • Mga Type V

  • Cardiomyopathy, Dilated, With Ataxia

  • Mga, Type V

  • Dilated Cardiomyopathy With Ataxia Syndrome

  • Dnajc19 Defect

  • 3-Methylglutaconic Aciduria 5

  • 3-Alpha-Methylglutaconic Aciduria Type 5

  • 3-@Methylglutaconic Aciduria, Type V
Expressive Language Disorder

  • Developmental Expressive Language Disorder
Organic Acidemia

  • Organic Aciduria

  • Disorder Of Organic Acid Metabolism

  • Organic Acid Metabolism Disorder

  • Organic Acidemias

  • Inherited Organic Acidemia

  • Organic Acidurias

  • Aciduria Organic
Dystonia

  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-115438 AUH-6-96 / Unkown
HY-RS01263 AUH Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18112 Auh Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24586 Auh Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus AUH RGD RGD:1306087
Felis catus AUH VGNC VGNC:102902
Mus musculus AUH MGD MGI:1338011
Canis familiaris AUH VGNC VGNC:38308
Macaca mulatta AUH VGNC VGNC:81364
Others AUH NCBI