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Aliases for ALDH9A1 Gene

Aliases for ALDH9A1 Gene

  • Aldehyde Dehydrogenase 9 Family Member A1 2 3 5
  • Aldehyde Dehydrogenase Family 9 Member A1 3 4
  • Gamma-Aminobutyraldehyde Dehydrogenase 3 4
  • R-Aminobutyraldehyde Dehydrogenase 3 4
  • Aldehyde Dehydrogenase E3 Isozyme 3 4
  • TMABADH 3 4
  • ALDH4 3 4
  • ALDH7 3 4
  • ALDH9 3 4
  • 4-Trimethylaminobutyraldehyde Dehydrogenase 3
  • Aldehyde Dehydrogenase 9 Family, Member A1 2
  • Aldehyde Dehydrogenase (NAD+) 3
  • EC 4
  • EC 4
  • EC 4
  • E3 3

External Ids for ALDH9A1 Gene

Previous HGNC Symbols for ALDH9A1 Gene

  • ALDH7
  • ALDH4
  • ALDH9

Previous GeneCards Identifiers for ALDH9A1 Gene

  • GC01M163266
  • GC01M161282
  • GC01M162327
  • GC01M162818
  • GC01M162363
  • GC01M163899
  • GC01M136878

Summaries for ALDH9A1 Gene

Entrez Gene Summary for ALDH9A1 Gene

  • 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]

GeneCards Summary for ALDH9A1 Gene

ALDH9A1 (Aldehyde Dehydrogenase 9 Family Member A1) is a Protein Coding gene. Diseases associated with ALDH9A1 include Fetal Alcohol Spectrum Disorder and Alcohol Dependence. Among its related pathways are Drug metabolism - cytochrome P450 and Glycerolipid metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and NAD binding. An important paralog of this gene is ALDH2.

UniProtKB/Swiss-Prot for ALDH9A1 Gene

  • Converts gamma-trimethylaminobutyraldehyde into gamma-butyrobetaine. Catalyzes the irreversible oxidation of a broad range of aldehydes to the corresponding acids in an NAD-dependent reaction.

Gene Wiki entry for ALDH9A1 Gene

Additional gene information for ALDH9A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH9A1 Gene

Genomics for ALDH9A1 Gene

GeneHancer (GH) Regulatory Elements for ALDH9A1 Gene

Promoters and enhancers for ALDH9A1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J165695 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 682.5 +1.4 1448 3.7 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ALDH9A1 LOC440700 LOC284685 UCK2 MGST3 GC01M165672
GH01J165767 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 18.2 -70.2 -70175 2.8 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 LOC100147773 UCK2 TMCO1 LOC284685 ALDH9A1 GC01P165777
GH01J165629 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 5.9 +66.7 66738 4.6 HDGF SMAD1 MLX ARNT ARID4B SIN3A ZNF2 YY1 POLR2B ZNF213 MGST3 LOC284685 LRRC52 ALDH9A1 ENSG00000206990 GC01M165662
GH01J165685 Enhancer 0.6 ENCODE 19.9 +12.2 12217 1.8 CTCF NR2F1 ZNF133 JUNB ELF1 BATF RAD21 ZNF143 EHMT2 HOMEZ ALDH9A1 MGST3 GC01M165672 LOC440700
GH01J166489 Promoter/Enhancer 1.5 Ensembl ENCODE 5.4 -791.1 -791086 2.5 HDGF PKNOX1 ATF1 ARNT TCF12 POLR2B ZNF766 E2F8 ZFP91 FOS LINC01675 LOC284685 POU2F1 UCK2 ALDH9A1 FMO7P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALDH9A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALDH9A1 gene promoter:
  • E47
  • Lmo2
  • GR-beta
  • GR-alpha
  • GR
  • NRSF form 1
  • NRSF form 2
  • POU3F2
  • LCR-F1
  • deltaCREB

Genomic Locations for ALDH9A1 Gene

Genomic Locations for ALDH9A1 Gene
36,652 bases
Minus strand
36,652 bases
Minus strand

Genomic View for ALDH9A1 Gene

Genes around ALDH9A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH9A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALDH9A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH9A1 Gene

Proteins for ALDH9A1 Gene

  • Protein details for ALDH9A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    4-trimethylaminobutyraldehyde dehydrogenase
    Protein Accession:
    Secondary Accessions:
    • B2R6X1
    • B4DXY7
    • Q5VV90
    • Q6LCL1
    • Q9NZT7

    Protein attributes for ALDH9A1 Gene

    494 amino acids
    Molecular mass:
    53802 Da
    Quaternary structure:
    • Homotetramer.
    • Sequence=CAH74061.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ALDH9A1 Gene


neXtProt entry for ALDH9A1 Gene

Post-translational modifications for ALDH9A1 Gene

  • Ubiquitination at posLast=6868 and Lys30
  • Modification sites at PhosphoSitePlus

Other Protein References for ALDH9A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ALDH9A1 Gene

Domains & Families for ALDH9A1 Gene

Gene Families for ALDH9A1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for ALDH9A1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the aldehyde dehydrogenase family.
  • Belongs to the aldehyde dehydrogenase family.
genes like me logo Genes that share domains with ALDH9A1: view

Function for ALDH9A1 Gene

Molecular function for ALDH9A1 Gene

UniProtKB/Swiss-Prot Function:
Converts gamma-trimethylaminobutyraldehyde into gamma-butyrobetaine. Catalyzes the irreversible oxidation of a broad range of aldehydes to the corresponding acids in an NAD-dependent reaction.
UniProtKB/Swiss-Prot CatalyticActivity:
4-trimethylammoniobutanal + NAD(+) + H(2)O = 4-trimethylammoniobutanoate + NADH.
UniProtKB/Swiss-Prot CatalyticActivity:
An aldehyde + NAD(+) + H(2)O = a carboxylate + NADH.
UniProtKB/Swiss-Prot CatalyticActivity:
4-aminobutanal + NAD(+) + H(2)O = 4-aminobutanoate + NADH.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=11 uM for 4-aminobutyraldehyde; pH dependence: Optimum pH is about 9.4 with propionaldehyde as substrate, and 7.5 with 4-aminobutyraldehyde as substrate.;

Enzyme Numbers (IUBMB) for ALDH9A1 Gene

Phenotypes From GWAS Catalog for ALDH9A1 Gene

Gene Ontology (GO) - Molecular Function for ALDH9A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004028 3-chloroallyl aldehyde dehydrogenase activity EXP 2925663
GO:0004029 aldehyde dehydrogenase (NAD) activity IEA,IDA 2925663
GO:0016491 oxidoreductase activity IEA --
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor IEA --
GO:0019145 aminobutyraldehyde dehydrogenase activity IDA,IEA 2925663
genes like me logo Genes that share ontologies with ALDH9A1: view
genes like me logo Genes that share phenotypes with ALDH9A1: view

Animal Models for ALDH9A1 Gene

MGI Knock Outs for ALDH9A1:

Animal Model Products

miRNA for ALDH9A1 Gene

miRTarBase miRNAs that target ALDH9A1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ALDH9A1 Gene

Localization for ALDH9A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH9A1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALDH9A1 gene
Compartment Confidence
extracellular 5
cytosol 5
mitochondrion 4
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ALDH9A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 2925663
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with ALDH9A1: view

Pathways & Interactions for ALDH9A1 Gene

genes like me logo Genes that share pathways with ALDH9A1: view

UniProtKB/Swiss-Prot P49189-AL9A1_HUMAN

  • Pathway: Amine and polyamine biosynthesis; carnitine biosynthesis.

Gene Ontology (GO) - Biological Process for ALDH9A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006081 cellular aldehyde metabolic process IDA 8645224
GO:0008152 metabolic process IEA --
GO:0042136 neurotransmitter biosynthetic process IDA 2925663
GO:0042445 hormone metabolic process TAS 2925663
GO:0045329 carnitine biosynthetic process TAS --
genes like me logo Genes that share ontologies with ALDH9A1: view

No data available for SIGNOR curated interactions for ALDH9A1 Gene

Drugs & Compounds for ALDH9A1 Gene

(61) Drugs for ALDH9A1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
acetic acid Approved Nutra Full agonist, Agonist 116
gamma-Aminobutyric acid Approved, Investigational Pharma 263
Water Approved Pharma 0
spermine Approved Nutra Full agonist, Agonist, Antagonist, Pore Blocker, Channel blocker 0

(92) Additional Compounds for ALDH9A1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Hydroxyindoleacetic acid
  • 5-HIAA
  • 5-Hydroxy-1H-indole-3-acetic acid
  • 5-Hydroxyindol-3-ylacetic acid
  • 5-Hydroxyindole-3-acetic acid
  • 5-Hydroxyindoleacetate
  • (+-)-Glyceraldehyde
  • 2,3-Dihydroxypropanal
  • 2,3-Dihydroxypropionaldehyde
  • Aldotriose
  • alpha,beta-Dihydroxypropionaldehyde
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
(S)-Methylmalonic acid semialdehyde
  • (S)-Methylmalonate semialdehyde
  • (2S)-2-Methyl-3-oxopropanoate
  • (2S)-2-Methyl-3-oxopropanoic acid
  • Formylacetylene
  • Propargylaldehyde
  • Propioaldehyde
  • Propiolaldehyde
genes like me logo Genes that share compounds with ALDH9A1: view

Transcripts for ALDH9A1 Gene

mRNA/cDNA for ALDH9A1 Gene

Unigene Clusters for ALDH9A1 Gene

Aldehyde dehydrogenase 9 family, member A1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH9A1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1: - -
SP3: -

Relevant External Links for ALDH9A1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ALDH9A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALDH9A1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALDH9A1 Gene

Protein tissue co-expression partners for ALDH9A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ALDH9A1 Gene:


SOURCE GeneReport for Unigene cluster for ALDH9A1 Gene:


mRNA Expression by UniProt/SwissProt for ALDH9A1 Gene:

Tissue specificity: High expression in adult liver, skeletal muscle, and kidney. Low levels in heart, pancreas, lung and brain. Expressed in all regions of the brain. Expression levels are variable in the different brain areas, with the highest levels in the spinal cord and the lowest in the occipital pole.

Evidence on tissue expression from TISSUES for ALDH9A1 Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Spleen(4.4)
  • Kidney(3.8)
  • Lung(2.9)
  • Intestine(2.3)
  • Muscle(2.2)
  • Skin(2.2)
  • Stomach(2)
genes like me logo Genes that share expression patterns with ALDH9A1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDH9A1 Gene

Orthologs for ALDH9A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ALDH9A1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ALDH9A1 34 33
  • 99.61 (n)
(Bos Taurus)
Mammalia ALDH9A1 34 33
  • 91.36 (n)
(Canis familiaris)
Mammalia ALDH9A1 34 33
  • 87.58 (n)
(Rattus norvegicus)
Mammalia Aldh9a1 33
  • 86.03 (n)
(Mus musculus)
Mammalia Aldh9a1 16 34 33
  • 84.62 (n)
(Ornithorhynchus anatinus)
Mammalia ALDH9A1 34
  • 83 (a)
(Monodelphis domestica)
Mammalia ALDH9A1 34
  • 76 (a)
(Gallus gallus)
Aves ALDH9A1 34 33
  • 76.11 (n)
(Anolis carolinensis)
Reptilia ALDH9A1 34
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh9a1 33
  • 71.04 (n)
Str.4269 33
African clawed frog
(Xenopus laevis)
Amphibia MGC52697 33
(Danio rerio)
Actinopterygii aldh9a1a.2 34
  • 71 (a)
aldh9a1a.1 34 33
  • 70.91 (n)
aldh9a1b 34
  • 65 (a)
Dr.1904 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8954 33
(Caenorhabditis elegans)
Secernentea alh-12 34 33
  • 56.9 (n)
alh-11 34
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10696 34
  • 51 (a)
Cin.13430 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13430 33
Species where no ortholog for ALDH9A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ALDH9A1 Gene

Gene Tree for ALDH9A1 (if available)
Gene Tree for ALDH9A1 (if available)
Evolutionary constrained regions (ECRs) for ALDH9A1: view image

Paralogs for ALDH9A1 Gene

(12) SIMAP similar genes for ALDH9A1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ALDH9A1: view

Variants for ALDH9A1 Gene

Sequence variations from dbSNP and Humsavar for ALDH9A1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs121908986 affects, ALDH9A1*2 POLYMORPHISM 165,683,019(-) C/G/T coding_sequence_variant, missense_variant
rs140581841 uncertain-significance, Malignant tumor of prostate 165,695,314(-) A/G 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1000060334 -- 165,678,057(-) C/T intron_variant
rs1000119601 -- 165,673,784(-) G/C intron_variant
rs1000120369 -- 165,690,444(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ALDH9A1 Gene

Variant ID Type Subtype PubMed ID
esv1624307 CNV insertion 17803354
esv2555363 CNV insertion 19546169
esv33411 CNV loss 17666407
esv33567 CNV loss 17666407
esv3542023 CNV deletion 23714750
esv3587809 CNV loss 21293372
nsv946481 CNV duplication 23825009

Variation tolerance for ALDH9A1 Gene

Residual Variation Intolerance Score: 76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.46; 64.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALDH9A1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH9A1 Gene

Disorders for ALDH9A1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ALDH9A1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
fetal alcohol spectrum disorder
  • fetal alcohol syndrome
alcohol dependence
  • alcoholism
alcohol abuse
  • alcohol dependence
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ALDH9A1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ALDH9A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ALDH9A1 Gene

Publications for ALDH9A1 Gene

  1. Human gamma-aminobutyraldehyde dehydrogenase (ALDH9): cDNA sequence, genomic organization, polymorphism, chromosomal localization, and tissue expression. (PMID: 8786138) Lin SW … Yoshida A (Genomics 1996) 2 3 4 22 58
  2. Aldehyde dehydrogenase from adult human brain that dehydrogenates gamma-aminobutyraldehyde: purification, characterization, cloning and distribution. (PMID: 8645224) Kikonyogo A … Pietruszko R (The Biochemical journal 1996) 3 4 22 58
  3. Human aldehyde dehydrogenase: chromosomal assignment of the gene for the isozyme that metabolizes gamma-aminobutyraldehyde. (PMID: 8112751) McPherson JD … Pietruszko R (Human genetics 1994) 2 3 22 58
  4. Human aldehyde dehydrogenase. cDNA cloning and primary structure of the enzyme that catalyzes dehydrogenation of 4-aminobutyraldehyde. (PMID: 8269919) Kurys G … Pietruszko R (European journal of biochemistry 1993) 3 4 22 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for ALDH9A1 Gene

Sources for ALDH9A1 Gene

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