Gene:
ADH1A
alcohol dehydrogenase 1A (class I), alpha polypeptide
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PharmGKB contains no Clinical Variants that meet the highest level of criteria.
Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.
The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.
The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.
The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.
Links in the "Drugs" column lead to PharmGKB Drug Pages.
List of all variant annotations for ADH1A
|
Variant?
(147) |
Alternate Names ? | Chemicals ? |
Alleles
?
(+ chr strand) |
Function ? |
Amino Acid?
Translation |
|
|---|---|---|---|---|---|---|
| rs1229967 | NC_000004.11:g.100207578G>C, NC_000004.12:g.99286421G>C, NM_000667.3:c.259+429C>G, NR_037884.1:n.3790-374G>C, rs117541479, rs1693436, rs17298736, rs57128620 |
G > C
G > T
|
SNP | |||
| rs1229976 | NC_000004.11:g.100202078C>T, NC_000004.12:g.99280921C>T, NM_000667.3:c.829-642G>A, NR_037884.1:n.3790-5874C>T, rs1789860, rs3805323, rs57398036 |
C > T
|
SNP | |||
| rs1826909 | NC_000004.11:g.100217743C>T, NC_000004.12:g.99296586C>T, NR_037884.1:n.4161-3713C>T, rs17512416, rs4525982, rs61683245 |
C > T
|
SNP | |||
| rs2276332 | NC_000004.11:g.100203447A>C, NC_000004.12:g.99282290A>C, NM_000667.3:c.828+56T>G, NR_037884.1:n.3790-4505A>C, rs17028805, rs386563298, rs4147534 |
A > C
|
SNP | |||
| rs6811453 | NC_000004.11:g.100194977G>A, NC_000004.12:g.99273820G>A, NR_037884.1:n.3790-12975G>A, XR_244675.1:n.691-305G>A |
G > A
|
SNP | |||
| rs931635 | NC_000004.11:g.100210847A>G, NC_000004.12:g.99289690A>G, NM_000667.3:c.18+1207T>C, NR_037884.1:n.4148+905A>G, rs1693434, rs59523765, rs59861732 |
A > G
|
SNP | |||
| rs975833 | NC_000004.11:g.100201739G>C, NC_000004.12:g.99280582G>C, NM_000667.3:c.829-303C>G, NR_037884.1:n.3790-6213G>C, rs59130346 |
G > C
|
SNP |
Overview
| Alternate Names: | ADH1 |
|---|---|
| Alternate Symbols: | None |
| PharmGKB Accession Id: | PA24570 |
Details
| Cytogenetic Location: | chr4 : q23 - q23 |
|---|---|
| GP mRNA Boundary†: | chr4 : 100197523 - 100212185 |
| GP Gene Boundary†: | chr4 : 100194523 - 100222185 |
| Strand: | minus |
Visualization
UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.
View on UCSC BrowserADH1A is one of three Class I alcohol dehydrogenases expressed in humans [Article:17204375], with the other two being the similar enzymes ADH1B and ADH1C. The Class I alcohol dehydrogenases all have high expression in human liver [Article:15449945]. Studying the specific roles of these individual enzymes in alcohol dependence using model organisms such as mouse and rat can be difficult since these rodents have only one Class I alcohol dehydrogenase [Article:10424757]. These genes likely came about as gene duplication events, and they are all located on the same chromosome in humans [Article:17204375]. The amino acid composition of the resulting proteins is very similar between the three enzymes, and the catalyzed reactions are similar, although differences in the active site have led to the development of an isozyme-specific inhibitor for ADH1A [Article:15449945]. The Class I isozymes have been identified as both homodimers and heterodimers [Article:15449945]. The Class I alcohol dehydrogenases are differentially expressed during development, with each isozyme becoming the predominat alcohol dehydrogenase expressed at different times [Article:12489990]. ADH1A is initially the predominant isoform expressed in fetal liver [Article:12489990]. In adult tissues, this isoform has the highest expression of any Class I alcohol dehydrogenase in the kidney [Article:16571603].
Each Class I ADH is able to catalyze the conversion of alcohol to acetaldehyde, a metabolite that is associated with some of the toxicities associated with alcohol [Article:17718399]. Acetaldehyde is detoxified via further metabolism by aldehyde dehydrogenase genes ALDH1A1 and ALDH2 [Article:17590985]. Variants of all the Class I alcohol dehydrogenase genes have been described [Article:17273965], and many have been associated with a predisposition towards Alcoholism [Article:17185388 16685648], or have been associated with a protective effect of alcohol [Article:17273965]. The structure of ADH1A has been solved, and the active domain appears to be more "closed" than other known alcohol dehydrogenase structures [Article:11274460]. ADH1A has also been shown to have the highest activity of any Class I alcohol dehydrogenase towards secondary alcohols [Article:11274460]. Despite these discoveries, ADH1A remains the least well characterized of the Class I alcohol dehydrogenases, with only a handful of variants described in the literature, and its contribution towards Alcoholism likely pales in comparison to that of ADH1B.
| Citation |
M. Whirl-Carrillo, E.M. McDonagh, J. M. Hebert, L. Gong, K. Sangkuhl, C.F. Thorn, R.B. Altman and T.E. Klein.
"Pharmacogenomics Knowledge for Personalized Medicine"
Clinical Pharmacology & Therapeutics (2012) 92(4): 414-417.
Full text
|
|---|---|
| History |
Submitted by Ryan Owen |
| Key Publications |
|
| Variant Summaries | rs975833 |
| Drugs |
Drug (1)
|
| Diseases |
PharmGKB Curated Pathways
Pathways created internally by PharmGKB based primarily on literature evidence.
-
Abacavir Pathway, Pharmacokinetics/Pharmacodynamics
Schematic representation of abacavir metabolism and mechanism of action. The potential mechanism of an abacavir hypersensitivity reaction is also shown.
-
Celecoxib Pathway, Pharmacokinetics
Schematic representation of celecoxib metabolism in human liver cell.
-
Cyclophosphamide Pathway, Pharmacodynamics
Model non-tissue-specific cancer cell displaying genes which may be involved in the cyclophosphamide pathway.
-
Ifosfamide Pathway, Pharmacodynamics
Model non-tissue specific cancer cell displaying genes which may be involved in the ifosfamide pathway.
Curated Information ?
| Evidence | Drug |
|---|---|
| abacavir | |
| cytarabine | |
| ethanol | |
| fludarabine | |
| gemtuzumab ozogamicin | |
| idarubicin |
Publications related to ADH1A: 9
LinkOuts
- RefSeq DNA:
- NT_016354
- UniProtKB:
- ADH1A_HUMAN (P07327)
- Ensembl:
- ENSG00000187758
- GenAtlas:
- ADH1A
- GeneCard:
- ADH1A