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This gene encodes a transcription factor that is a member of the nuclear receptor subfamily 1. The encoded protein is a ligand-sensitive transcription factor that negatively regulates the expression of core clock proteins. In particular this protein represses the circadian clock transcription factor aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL). This protein may also be involved in regulating genes that function in metabolic, inflammatory and cardiovascular processes. [provided by RefSeq, Jan 2013]
NR1D1 (Nuclear Receptor Subfamily 1 Group D Member 1) is a Protein Coding gene. Diseases associated with NR1D1 include Hypothyroidism, Congenital, Nongoitrous, 6 and Rem Sleep Behavior Disorder. Among its related pathways are Neuroscience and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is NR1D2.
Rev-Erb receptors are orphan nuclear receptors belonging to the NR1D receptor family. There are two types, Rev-Erbalpha and Rev-Erbbeta. They are important in the regulation of circadian rhythm, as well as lipid homeostasis and lipid metabolism.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IBA,IDA | 18511497 |
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IDA | 19955433 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA,IMP | 8622974 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001222 | transcription corepressor binding | IMP | 18006707 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | IDA,ISA | -- |
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | TAS,ISS | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | BMAL1-CLOCK,NPAS2 activates circadian gene expression |
.68
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2 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
3 | Circadian rhythm |
.30
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Circadian Clock in Mammals
.30
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4 | Gene Expression |
.48
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|
5 | Metabolism |
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IMP | 18511497 |
GO:0001678 | cellular glucose homeostasis | IMP | 18006707 |
GO:0005978 | glycogen biosynthetic process | ISS | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006367 | transcription initiation from RNA polymerase II promoter | TAS | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NR1D1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NR1D1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NR1D1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nr1d1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Nr1d1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NR1D1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | NR1D1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nr1d1 30 |
|
||
Str.16697 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.9778 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | nr1d1 30 31 |
|
OneToOne | |
Dr.27124 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8023 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Eip78C 32 |
|
|
|
Eip75B 31 32 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | sex-1 31 |
|
ManyToMany | |
nhr-85 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
738966 | Likely Benign: not provided | 40,095,127(-) | G/A | INTRON_VARIANT | |
780425 | Benign: not provided | 40,095,630(-) | G/A | SYNONYMOUS_VARIANT | |
781299 | Benign: not provided | 40,097,216(-) | G/A | SYNONYMOUS_VARIANT | |
rs201037953 | Uncertain Significance: Hypothyroidism, congenital, nongoitrous, 6 | 40,093,275(-) | C/T | NONSENSE,SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypothyroidism, congenital, nongoitrous, 6 |
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rem sleep behavior disorder |
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major depressive disorder |
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advanced sleep phase syndrome |
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delayed sleep phase disorder |
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