Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
223
Gene name Gene Name - the full gene name approved by the HGNC.
Aldehyde dehydrogenase 9 family member A1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ALDH9A1
Synonyms (NCBI Gene) Gene synonyms aliases
ALDH4, ALDH7, ALDH9, E3, TMABA-DH, TMABADH, TMABALDH
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q24.1
Summary Summary of gene provided in NCBI Entrez 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 a
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121908986 C>G,T Affects Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002631 hsa-miR-124-3p Microarray 15685193
MIRT020624 hsa-miR-155-5p Proteomics 18668040
MIRT002631 hsa-miR-124-3p Microarray 18668037
MIRT002631 hsa-miR-124-3p Microarray 15685193
MIRT024328 hsa-miR-215-5p Microarray 19074876
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IBA 21873635
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IDA 2925663, 30914451
GO:0005737 Component Cytoplasm TAS 2925663
GO:0005829 Component Cytosol TAS
GO:0006081 Process Cellular aldehyde metabolic process IDA 8645224, 30914451
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602733 412 ENSG00000143149
Protein
UniProt ID P49189
Protein name 4-trimethylaminobutyraldehyde dehydrogenase (TMABA-DH) (TMABALDH) (EC 1.2.1.47) (Aldehyde dehydrogenase E3 isozyme) (Aldehyde dehydrogenase family 9 member A1) (EC 1.2.1.3) (Formaldehyde dehydrogenase) (EC 1.2.1.46) (Gamma-aminobutyraldehyde dehydrogenase
Protein function Converts gamma-trimethylaminobutyraldehyde into gamma-butyrobetaine with high efficiency (in vitro). Can catalyze the irreversible oxidation of a broad range of aldehydes to the corresponding acids in an NAD-dependent reaction, but with low effi
PDB 6QAK , 6QAO , 6QAP , 6VR6 , 6VWF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00171 Aldedh 21 483 Aldehyde dehydrogenase family Family
Tissue specificity TISSUE SPECIFICITY: Detected in brain (at protein level) (PubMed:8645224). High expression in adult liver, skeletal muscle, and kidney. Low levels in heart, pancreas, lung and brain (PubMed:8786138). Expressed in all regions of the brain. Expression level
Sequence
Sequence length 494
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Glaucoma Glaucoma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Renal Cell Associate 25826619
Kidney Neoplasms Associate 25826619