AUH (AU RNA binding methylglutaconyl-CoA hydratase)

AUH (AU RNA binding methylglutaconyl-CoA hydratase)

2014-11-01 Affiliation

Identity

HGNC

LOCATION

9q22.31

LOCUSID

ALIAS

-

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 549
MIM: 600529
HGNC: 890
Ensembl: ENSG00000148090

Variants:

dbSNP: 549
ClinVar: 549
TCGA: ENSG00000148090
COSMIC: AUH

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000148090	ENST00000303617	Q13825
ENSG00000148090	ENST00000375731	Q13825

Expression (GTEx)

0

5

10

15

20

25

30

35

40

45

50

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Valine, leucine and isoleucine degradation	KEGG	ko00280
Valine, leucine and isoleucine degradation	KEGG	hsa00280
Metabolic pathways	KEGG	hsa01100
Leucine degradation, leucine => acetoacetate + acetyl-CoA	KEGG	hsa_M00036
Leucine degradation, leucine => acetoacetate + acetyl-CoA	KEGG	M00036
Metabolism	REACTOME	R-HSA-1430728
Metabolism of amino acids and derivatives	REACTOME	R-HSA-71291
Branched-chain amino acid catabolism	REACTOME	R-HSA-70895

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
24598254	2014	A bifunctional protein regulates mitochondrial protein synthesis.	11
24598254	2014	A bifunctional protein regulates mitochondrial protein synthesis.	11
21840233	2011	Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion.	4
21840233	2011	Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion.	4
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
18831052	2009	AU-rich RNA-binding induces changes in the quaternary structure of AUH.	6
18831052	2009	AU-rich RNA-binding induces changes in the quaternary structure of AUH.	6
18978678	2008	Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.	36
18978678	2008	Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.	36
16640564	2006	Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism.	15
16640564	2006	Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism.	15
15033206	2004	3-methylglutaconic aciduria type I in a boy with fever-associated seizures.	7
15033206	2004	3-methylglutaconic aciduria type I in a boy with fever-associated seizures.	7
12655555	2003	Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.	16

Citation

Dessen P

AUH (AU RNA binding methylglutaconyl-CoA hydratase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60664/js/css/js/lib/popper.js