Gene Gene information from NCBI Gene database.
Entrez ID 223
Gene name Aldehyde dehydrogenase 9 family member A1
Gene symbol ALDH9A1
Synonyms (NCBI Gene)
ALDH4ALDH7ALDH9E3TMABA-DHTMABADHTMABALDH
Chromosome 1
Chromosome location 1q24.1
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 a
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs121908986 C>G,T Affects Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
587
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IDA 1799975, 2071588, 2925663, 30914451
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IEA
GO:0005737 Component Cytoplasm IDA 1799975
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm TAS 2925663
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602733 412 ENSG00000143149
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALDH9A1*2 POLYMORPHISM Affects ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLAUCOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anemia, Hemolytic Anemia BEFREE 11916749
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 25826619 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 11916749
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 17001320
★☆☆☆☆
Found in Text Mining only
Favism Favism BEFREE 11916749
★☆☆☆☆
Found in Text Mining only
Kidney Neoplasms Kidney neoplasm Pubtator 25826619 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of kidney Kidney Cancer BEFREE 25826619
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 11916749
★☆☆☆☆
Found in Text Mining only
Renal carcinoma Renal Carcinoma BEFREE 25826619
★☆☆☆☆
Found in Text Mining only
Renal Cell Carcinoma Renal Carcinoma BEFREE 17001320
★☆☆☆☆
Found in Text Mining only