ALDH9A1 - aldehyde dehydrogenase 9 family member A1 Gene

Also Known as E3; ALDH4; ALDH7; ALDH9; TMABADH; TMABA-DH; TMABALDH

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 223

About ALDH9A1

Cytogenetic location: 1q24.1 Genomic coordinates (GRCh38): 1:165,662,216-165,698,562 (from NCBI)

This gene has 5 transcripts (splice variants), 219 orthologues and 17 paralogues. Ubiquitous expression in fat (RPKM 90.6), thyroid (RPKM 83.5) and 25 other tissues.

Summary

This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of gamma-aminobutyraldehyde and Other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric acid (GABA). This isozyme is a tetramer of identical 54-kD subunits. [provided by RefSeq, Jul 2008]

ALDH9A1 Products (2)

mRNA	Protein	Name
NM_000696.4	NP_000687.3	4-trimethylaminobutyraldehyde dehydrogenase isoform 1
NM_001365774.2	NP_001352703.1	4-trimethylaminobutyraldehyde dehydrogenase isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 4-trimethylammoniobutyraldehyde dehydrogenase activity	EXP EXP: Inferred from Experiment	2925663	GOA
enables 4-trimethylammoniobutyraldehyde dehydrogenase activity	IDA IDA: Inferred from direct assay	30914451	GOA
enables aldehyde dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	1799975	GOA
enables aminobutyraldehyde dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	1799975	GOA
enables formaldehyde dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	2071588	GOA
enables small molecule binding	EXP EXP: Inferred from Experiment	30914451	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular aldehyde metabolic process	IDA IDA: Inferred from direct assay	8645224	GOA
involved in protein homotetramerization	IDA IDA: Inferred from direct assay	30914451	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	1799975	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

ALDH9A1 Protein Structure

Aldedh

0
100
200
300
400
518 a.a.

Protein Preferred Names	Protein Names
4-trimethylaminobutyraldehyde dehydrogenase	R-aminobutyraldehyde dehydrogenase

Related Diseases

Diseases	Alias
Alcohol Dependence	Alcoholism Alcohol Dependence, Susceptibility To Alcohol Dependence, Protection Against Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against Alcoholism, Susceptibility To Alcoholic Intoxication, Chronic Pharyngeal Neoplasms Chronic Alcoholism Dipsomania Alcohol Addiction Ethanol Dependence Chronic Ethanolism Chronic Alcoholic Disease Nos Alcoholic Disease Nos Alcoholic
Alcohol Use Disorder	Alcohol Abuse Alcoholism Ethanol Abuse Alcohol Addiction Alcohol Dependence Alcoholic Intoxication, Chronic Alcohol-Related Disorders
Gamma-Amino Butyric Acid Metabolism Disorder	Disorder Of Gamma-Aminobutyric Acid Metabolism Disorder Of Gaba Metabolism Disorders Of Gaba - [Gamma Aminobutyric Acid] Metabolism
Succinic Semialdehyde Dehydrogenase Deficiency	4-Hydroxybutyric Aciduria Ssadh Deficiency Gamma-Hydroxybutyric Aciduria Gaba Metabolic Defect SSADHD Ssadh Succinate-Semialdehyde Dehydrogenase Deficiency Gamma-Hydroxybutyricaciduria 4-Hydroxybutyricaciduria Gamma-Hydroxybutyric Acidemia Succinate Semialdehyde Dehydrogenase Deficiency
Hyperprolinemia	Proline Oxidase Deficiency Hyperprolinemia Type 1 Proline Hydrogenase Deficiency Prolinemia Pyrroline Carboxylate Dehydrogenase Deficiency Pyrroline-5-Carboxylate Dehydrogenase Deficiency Proline Dehydrogenase Deficiency Hyperprolinemia Type 2
Alcoholic Hepatitis	Acute Alcoholic Hepatitis Acute Alcoholic Liver Disease Hepatitis, Alcoholic Hepatitis Alcoholic Ah - [Alcoholic Hepatitis] Ethanol Hepatitis
Alcoholic Liver Cirrhosis	Alcoholic Cirrhosis Portal Cirrhosis Alcoholic Cirrhosis Of Liver Liver Cirrhosis, Alcoholic Laennec'S Cirrhosis Laennec'S Cirrhosis, Alcoholic Alcohol Cirrhosis Alcoholic Laennec Cirrhosis Alcoholic Cirrhosis Nos Etoh Cirrhosis Alcohol Hepatic Cirrhosis Alcohol Liver Cirrhosis Laennec Cirrhosis
Pleurisy
Sjogren-Larsson Syndrome	Sjögren-Larsson Syndrome SLS Faldh Deficiency Fatty Aldehyde Dehydrogenase Deficiency Fatty Acid Alcohol Oxidoreductase Deficiency Ichthyosis, Spastic Neurologic Disorder, And Oligophrenia Sjogren Larsson Syndrome Fatty Alcohol:Nad+ Oxidoreductase Deficiency Sjogren-Larsson'S Syndrome Fadh Deficiency Fao Deficiency Congenital Icthyosis Mental Retardation Spasticity Syndrome Ichthyosis Oligophrenia Syndrome Sjoegren-Larsson Syndrome
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-182636	MT16-001	Inhibitor	/	Unkown
HY-RS00582	ALDH9A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ALDH9A1	VGNC	VGNC:37791
Rattus norvegicus	ALDH9A1	RGD	RGD:68409
Felis catus	ALDH9A1	VGNC	VGNC:97346
Mus musculus	ALDH9A1	MGD	MGI:1861622
Bos taurus	ALDH9A1	VGNC	VGNC:25820
Macaca mulatta	ALDH9A1	VGNC	VGNC:99842
Others	ALDH9A1	NCBI