Gene:
NR1D1
nuclear receptor subfamily 1, group D, member 1

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

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.

? = Mouse-over for quick help

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 NR1D1

Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs12941497 NC_000017.10:g.38255594G>A, NC_000017.11:g.40099341G>A, NG_033084.1:g.6385C>T, NM_021724.4:c.31+723C>T, rs60694665
G > A
SNP
No VIP available CA VA
rs2071427 NC_000017.10:g.38254492C>T, NC_000017.11:g.40098239C>T, NG_033084.1:g.7487G>A, NM_021724.4:c.32-836G>A, rs2234854, rs58548235
C > T
SNP
No VIP available No Clinical Annotations available VA
rs2071570 NC_000017.10:g.38257090C>A, NC_000017.11:g.40100837C>A, NG_033084.1:g.4889G>T, NM_021724.4:c.-743G>T, rs56689263
C > A
SNP
No VIP available No Clinical Annotations available VA
rs2269457 NC_000017.10:g.38254689T>C, NC_000017.11:g.40098436T>C, NG_033084.1:g.7290A>G, NM_021724.4:c.32-1033A>G, rs386562981, rs57192040
T > C
SNP
No VIP available CA VA
rs2314339 NC_000017.10:g.38253212C>T, NC_000017.11:g.40096959C>T, NG_033084.1:g.8767G>A, NM_021724.4:c.370+106G>A, rs59804094
C > T
SNP
No VIP available No Clinical Annotations available VA
rs4794826 NC_000017.10:g.38250782C>T, NC_000017.11:g.40094529C>T, NG_023345.1:g.37337C>T, NG_033084.1:g.11197G>A, NM_021724.4:c.1434+406G>A, rs386595502, rs59544684
C > T
SNP
No VIP available No Clinical Annotations available VA
rs939347 NC_000017.10:g.38256693G>A, NC_000017.11:g.40100440G>A, NG_033084.1:g.5286C>T, NM_021724.4:c.-346C>T, rs57211090
G > A
SNP
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names:  THRAL
Alternate Symbols:  Rev-ErbAalpha; THRA1; ear-1; hRev
PharmGKB Accession Id: PA31748

Details

Cytogenetic Location: chr17 : q11.2 - q21.1
GP mRNA Boundary: chr17 : 38249037 - 38256978
GP Gene Boundary: chr17 : 38246037 - 38266978
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 Browser
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

Curated Information ?

Evidence Gene
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
THRA

Curated Information ?

Evidence Drug
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
lithium

Curated Information ?

Publications related to NR1D1: 6

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A glutamatergic network mediates lithium response in bipolar disorder as defined by epigenome pathway analysis. Pharmacogenomics. 2015. Higgins Gerald A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FMR1, circadian genes and depression: suggestive associations or false discovery?. Journal of circadian rhythms. 2013. Kripke Daniel F, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Functional genetic variation in the Rev-Erbalpha pathway and lithium response in the treatment of bipolar disorder. Genes, brain, and behavior. 2011. McCarthy M J, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Nuclear receptor rev-erb-{alpha} circadian gene variants and lithium carbonate prophylaxis in bipolar affective disorder. Journal of biological rhythms. 2010. Campos-de-Sousa Sara, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Interacting genes in lithium prophylaxis: preliminary results of an exploratory analysis on the role of DGKH and NR1D1 gene polymorphisms in 199 Sardinian bipolar patients. Neuroscience letters. 2009. Manchia Mirko, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Nuclear receptor Rev-erbalpha is a critical lithium-sensitive component of the circadian clock. Science (New York, N.Y.). 2006. Yin Lei, et al. PubMed

LinkOuts

NCBI Gene:
9572
OMIM:
602408
UCSC Genome Browser:
NM_021724
RefSeq RNA:
NM_021724
RefSeq Protein:
NP_068370
RefSeq DNA:
NT_010783
UniProtKB:
NR1D1_HUMAN (P20393)
Ensembl:
ENSG00000126368
GenAtlas:
NR1D1
GeneCard:
NR1D1
MutDB:
NR1D1
ALFRED:
LO011240I
HuGE:
NR1D1
Comparative Toxicogenomics Database:
9572
ModBase:
P20393
HumanCyc Gene:
HS05014
HGNC:
7962

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