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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, hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation to acetaldehyde, thus playing a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. An association between ADH1C polymorphism and alcohol dependence has not been established. [provided by RefSeq, Sep 2019]
ADH1C (Alcohol Dehydrogenase 1C (Class I), Gamma Polypeptide) is a Protein Coding gene. Diseases associated with ADH1C include Alcohol Dependence and Parkinson Disease, Late-Onset. Among its related pathways are Signaling by GPCR and Drug metabolism - cytochrome P450. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and alcohol dehydrogenase (NAD) activity. An important paralog of this gene is ADH1B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004022 | alcohol dehydrogenase (NAD) activity | IEA,IDA | 6391957 |
GO:0004024 | alcohol dehydrogenase activity, zinc-dependent | IBA | 21873635 |
GO:0004745 | retinol dehydrogenase activity | IBA | 21873635 |
GO:0008270 | zinc ion binding | IEA,IBA | 21873635 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Drug metabolism - cytochrome P450 | ||
2 | Cytochrome P450 - arranged by substrate type | ||
3 | Metabolism |
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4 | Cyclophosphamide Pathway, Pharmacodynamics | ||
5 | Signaling by Retinoic Acid |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006069 | ethanol oxidation | TAS | -- |
GO:0042572 | retinol metabolic process | IBA | 21873635 |
GO:0042573 | retinoic acid metabolic process | IBA | 21873635 |
GO:0055114 | oxidation-reduction process | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
2,2,2-Trichloroethanol |
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115-20-8 |
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2-Phenyl-1,3-propanediol monocarbamate |
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3,4-Dihydroxymandelaldehyde |
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13023-73-9 |
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3,4-Dihydroxyphenylglycol |
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28822-73-3 |
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3a,7a-Dihydroxy-5b-cholestan-26-al |
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This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ADH1C 30 |
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||
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
LOC100856533 30 |
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Cow (Bos Taurus) |
Mammalia | ADH1C 30 |
|
||
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Adh1 30 17 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Adh1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
ADH1C 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | adh1c 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zgc:63568 31 |
|
ManyToMany | |
zgc:77938 31 |
|
ManyToMany | |||
adh8a 31 |
|
ManyToMany | |||
adh8b 31 |
|
ManyToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Fdh 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | H24K24.3 31 |
|
ManyToMany | |
Y50D4C.2 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SFA1 31 |
|
OneToMany | |
Rice (Oryza sativa) |
Liliopsida | Os.12591 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.2859 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1497 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1693482 | Protective: Alcohol dependence. - | 99,342,808(-) |
C/Tp.Arg272Gln NM_000669.5(ADH1C):c.815G>A (p.Arg272Gln) |
MISSENSE | |
rs283413 | Benign: not specified. Risk Factor: Parkinson disease, mitochondrial | 99,347,033(-) |
C/.C/A NM_000669.5(ADH1C):c.232= (p.Gly78=) |
NON_CODING_TRANSCRIPT_VARIANT,NO_SEQUENCE_ALTERATION | NONSENSE,NON_CODING_TRANSCRIPT | |
rs35385902 | Benign: not provided. - | 99,347,122(-) |
C/Tp.Arg48His NM_000669.5(ADH1C):c.143G>A (p.Arg48His) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs35719513 | Benign: not provided. - | 99,339,626(-) |
G/Tp.Pro352Thr NM_000669.5(ADH1C):c.1054C>A (p.Pro352Thr) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs35725608 | Likely Benign: not provided | 99,345,006(-) |
G/A NM_000669.5(ADH1C):c.423C>T (p.Phe141=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv5345n100 | CNV | gain | 25217958 |
esv2659036 | CNV | deletion | 23128226 |
nsv1002809 | CNV | gain | 25217958 |
nsv293592 | CNV | deletion | 16902084 |
nsv528518 | CNV | loss | 19592680 |
nsv966301 | CNV | duplication | 23825009 |
nsv980234 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
alcohol dependence |
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parkinson disease, late-onset |
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parkinson disease, mitochondrial |
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alcoholic liver cirrhosis |
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alcohol use disorder |
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