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

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 126
Gene name Alcohol dehydrogenase 1C (class I), gamma polypeptide
Gene symbol ADH1C
Synonyms (NCBI Gene)
ADH3
Chromosome 4
Chromosome location 4q23
Summary 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.
1
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
103730 251 ENSG00000248144
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Gene SNPs Other IDs Associated diseases
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)
Show/Hide Unknown Diseases (18)
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
Alcohol dependence protective ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT LATE ONSET PARKINSON DISEASE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (116)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute pancreatitis Pancreatitis BEFREE 29715134
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 17665311
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31074035
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 18268116, 24599561
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma LHGDN 18268116
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 12750236, 14578131
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 31211760
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyps Adenomatous Polyposis BEFREE 18268116
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 11471570, 26937962
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Hepatocellular Carcinoma Liver carcinoma BEFREE 16287084
★★★★★
★☆☆☆☆
Found in Text Mining only