Gene Gene information from NCBI Gene database.
Entrez ID 219
Gene name Aldehyde dehydrogenase 1 family member B1
Gene symbol ALDH1B1
Synonyms (NCBI Gene)
ALDH5ALDHX
Chromosome 9
Chromosome location 9p13.1
Summary This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locu
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs201458895 T>C Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
388
miRTarBase ID miRNA Experiments Reference
MIRT045046 hsa-miR-186-5p CLASH 23622248
MIRT044175 hsa-miR-99b-5p CLASH 23622248
MIRT043826 hsa-miR-328-3p CLASH 23622248
MIRT040428 hsa-miR-615-3p CLASH 23622248
MIRT038303 hsa-miR-130b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IBA
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
100670 407 ENSG00000137124
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P30837
Protein name Aldehyde dehydrogenase X, mitochondrial (EC 1.2.1.3) (Aldehyde dehydrogenase 5) (Aldehyde dehydrogenase family 1 member B1)
Protein function ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde. They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation.
PDB 7MJC , 7MJD , 7RAD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00171 Aldedh 45 508 Aldehyde dehydrogenase family Family
Tissue specificity TISSUE SPECIFICITY: Liver, testis and to a lesser extent in brain.
Sequence
Sequence length 517
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Complex neurodevelopmental disorder Uncertain significance rs61741825 RCV005365117
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 21216231, 26366059
Atherosclerosis Associate 40441253
Carcinogenesis Associate 37716420
Carcinoma Hepatocellular Associate 28792511
Carcinoma Non Small Cell Lung Associate 26366059
Colonic Neoplasms Stimulate 21216231
Colonic Neoplasms Associate 35805102
Colorectal Neoplasms Stimulate 21216231
Colorectal Neoplasms Associate 28881356, 35788181, 35805102, 37716420, 37847172
Coronary Artery Disease Associate 25047496