Gene Gene information from NCBI Gene database.
Entrez ID 125
Gene name Alcohol dehydrogenase 1B (class I), beta polypeptide
Gene symbol ADH1B
Synonyms (NCBI Gene)
ADH2HEL-S-117
Chromosome 4
Chromosome location 4q23
Summary The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products
miRNA miRNA information provided by mirtarbase database.
257
miRTarBase ID miRNA Experiments Reference
MIRT551507 hsa-miR-511-3p HITS-CLIP 21572407
MIRT551506 hsa-miR-567 HITS-CLIP 21572407
MIRT551505 hsa-miR-223-5p HITS-CLIP 21572407
MIRT551504 hsa-miR-3924 HITS-CLIP 21572407
MIRT551503 hsa-miR-568 HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0001523 Process Retinoid metabolic process IDA 15369820, 16787387
GO:0004022 Function Alcohol dehydrogenase (NAD+) activity IDA 9982, 2398055
GO:0004022 Function Alcohol dehydrogenase (NAD+) activity IEA
GO:0004745 Function All-trans-retinol dehydrogenase (NAD+) activity IBA
GO:0004745 Function All-trans-retinol dehydrogenase (NAD+) activity IDA 15369820
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
103720 250 ENSG00000196616
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P00325
Protein name All-trans-retinol dehydrogenase [NAD(+)] ADH1B (EC 1.1.1.105) (Alcohol dehydrogenase 1B) (Alcohol dehydrogenase subunit beta)
Protein function Catalyzes the NAD-dependent oxidation of all-trans-retinol and its derivatives such as all-trans-4-hydroxyretinol and may participate in retinoid metabolism (PubMed:15369820, PubMed:16787387). In vitro can also catalyze the NADH-dependent reduct
PDB 1DEH , 1HDX , 1HDY , 1HDZ , 1HSZ , 1HTB , 1U3U , 1U3V , 3HUD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08240 ADH_N 34 161 Alcohol dehydrogenase GroES-like domain Domain
PF00107 ADH_zinc_N 203 339 Zinc-binding dehydrogenase Family
Sequence
Sequence length 375
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
36
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
Aerodigestive tract cancer, squamous cell, alcohol-related, protection against protective ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alcohol dependence protective ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
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
Adenoma Adenoma BEFREE 24599561
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 21517275
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 12173598
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 27808372 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 28158658
★☆☆☆☆
Found in Text Mining only
Anemia Macrocytic Macrocytic anemia Pubtator 28158658 Associate
★☆☆☆☆
Found in Text Mining only
Anemia, Macrocytic Anemia BEFREE 24588059, 26917006, 28158658
★☆☆☆☆
Found in Text Mining only
Antisocial Personality Disorder Antisocial Personality Disorder BEFREE 16385179
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 15584875, 25543168
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 14757595, 15584875, 25543168
★☆☆☆☆
Found in Text Mining only