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
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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.
|
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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 |
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Sequence |
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Sequence length |
494 |
Interactions |
View interactions |