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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLESTASIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER 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
Adenocarcinoma Adenocarcinoma BEFREE 26366059
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 40441253 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25582316
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 37716420 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 28792511 Associate
★☆☆☆☆
Found in Text Mining only
Cholestasis Cholestasis CTD_human_DG 27989131
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon Carcinoma Colon Carcinoma BEFREE 25950950
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic neoplasm Pubtator 21216231 Stimulate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms Colonic Neoplasms CTD_human_DG 25641190
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms Colonic neoplasm Pubtator 35805102 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations