Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
219
Gene name Gene Name - the full gene name approved by the HGNC.
Aldehyde dehydrogenase 1 family member B1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ALDH1B1
Synonyms (NCBI Gene) Gene synonyms aliases
ALDH5, ALDHX
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNP ID Visualize variation Clinical significance Consequence
rs201458895 T>C Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
100670 407 ENSG00000137124
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Glioblastoma Glioblastoma N/A N/A GWAS
Neurodevelopmental Disorders complex neurodevelopmental disorder N/A N/A GenCC
Associations from Text Mining Disease 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