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ALDH9A1 (aldehyde dehydrogenase 9 family member A1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
223
Gene nameGene Name - the full gene name approved by the HGNC.
Aldehyde dehydrogenase 9 family member A1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ALDH9A1
SynonymsGene synonyms aliases
ALDH4, ALDH7, ALDH9, E3, TMABA-DH, TMABADH, TMABALDH
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q24.1
SummarySummary 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 acid (GABA). This isozyme is a tetramer of identical 54-kD subunits. [provided by RefSeq, Jul 2008]
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121908986 C>G,T Affects Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002631 hsa-miR-124-3p Microarray 15685193
MIRT002631 hsa-miR-124-3p Microarray 18668037
MIRT020624 hsa-miR-155-5p Proteomics 18668040
MIRT024328 hsa-miR-215-5p Microarray 19074876
MIRT025249 hsa-miR-34a-5p Proteomics 21566225
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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) (Gamma-aminobutyraldehyde dehydrogenase) (EC 1.2.1.19) (R-aminobutyraldehyde dehydrogenase) [Cleaved into: 4-trimethylaminobutyraldehyde dehydrogenase, N-terminally processed]
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 efficiency.
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
Sequence
Sequence length 494
Interactions View interactions

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