2. Gene
  3. AUH - AU RNA binding methylglutaconyl-CoA hydratase Gene

AUH - AU RNA binding methylglutaconyl-CoA hydratase Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens
Gene ID: 549 | Gene type: protein coding

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

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
Bioactive Molecules (3)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-113410 3-Methylglutaric acid ≥98.0% Unkown
HY-113410S 3-Methylglutaric acid-d4 / Unkown
HY-RS01263 AUH Human Pre-designed siRNA Set A / 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