ADH1C (alcohol dehydrogenase 1C (class I), gamma polypeptide)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
126
Gene name Gene Name - the full gene name approved by the HGNC.
Alcohol dehydrogenase 1C (class I), gamma polypeptide
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ADH1C
Synonyms (NCBI Gene) Gene synonyms aliases
ADH3
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q23
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes class I alcohol dehydrogenase, gamma subunit, which 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, hydroxyster
SNPs SNP information provided by dbSNP.
Gene SNPs Other IDs Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs283413 C>A,T Benign, risk-factor Coding sequence variant, missense variant, stop gained, non coding transcript variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0004022 Function Alcohol dehydrogenase (NAD+) activity IDA 6391957
GO:0004022 Function Alcohol dehydrogenase (NAD+) activity IEA
GO:0004745 Function All-trans-retinol dehydrogenase (NAD+) activity IBA
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
103730 251 ENSG00000248144
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID P00326
Protein name Alcohol dehydrogenase 1C (EC 1.1.1.1) (Alcohol dehydrogenase subunit gamma)
Protein function Alcohol dehydrogenase. Exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism.
PDB 1HT0 , 1U3W
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (3)
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
Hypertension Hypertension N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Parkinson disease Parkinson disease, mitochondrial N/A N/A ClinVar
Show/Hide Text Mining Associations (33)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 29808834
Adenocarcinoma of Lung Associate 31854219
Adenoma Associate 24599561, 37565794
Adenomatous Polyposis Coli Associate 37565794
Alcoholism Associate 10486334, 20810466, 22048268, 23134050, 26937962, 29058377, 37378938
Carcinoma Hepatocellular Associate 32148377, 33287761, 35236335, 35879918, 36456877
Carcinoma Hepatocellular Inhibit 36671526
Carcinoma Non Small Cell Lung Associate 29808834
Carcinoma Squamous Cell Associate 37575065
Cleft Lip Associate 19401770, 20810466