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The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
ARNTL (Aryl Hydrocarbon Receptor Nuclear Translocator Like) is a Protein Coding gene. Diseases associated with ARNTL include Delayed Sleep Phase Disorder and Rem Sleep Behavior Disorder. Among its related pathways are Neuroscience and Circadian rhythm. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is ARNTL2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | ISS | -- |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | ISS | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISS | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
GO:0003677 | DNA binding | IGI | 9576906 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IDA | 24005054 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | IPI | 9576906 |
GO:0005737 | cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | BMAL1-CLOCK,NPAS2 activates circadian gene expression |
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2 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
3 | Circadian rhythm |
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Circadian Clock in Mammals
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4 | Metabolism |
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5 | Neuroscience |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | ISS | -- |
GO:0006606 | protein import into nucleus | IEA | -- |
GO:0007283 | spermatogenesis | ISS | -- |
GO:0007623 | circadian rhythm | TAS | -- |
GO:0032007 | negative regulation of TOR signaling | ISS | -- |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14a | · | 14b | ^ | 15a | · | 15b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | - | - | - | - | - |
ExUns: | 16 | ^ | 17a | · | 17b | · | 17c | ^ | 18a | · | 18b | · | 18c | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||
SP2: | - | - | |||||||||||||||||||
SP3: | - | - | |||||||||||||||||||
SP4: | - | - | |||||||||||||||||||
SP5: | - | - | |||||||||||||||||||
SP6: | - | - | |||||||||||||||||||
SP7: | - | - | |||||||||||||||||||
SP8: | - | ||||||||||||||||||||
SP9: | - | ||||||||||||||||||||
SP10: | - | - | |||||||||||||||||||
SP11: | |||||||||||||||||||||
SP12: | |||||||||||||||||||||
SP13: | - | ||||||||||||||||||||
SP14: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ARNTL 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ARNTL 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ARNTL 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ARNTL 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Arntl 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Arntl 30 |
|
||
Chicken (Gallus gallus) |
Aves | ARNTL 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ARNTL 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | arntl 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.2098 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | arntl1a 31 |
|
OneToMany | |
arntl1b 31 |
|
OneToMany | |||
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | cyc 30 31 32 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005655 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709842 | Benign: not provided | 13,354,314(+) | A/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
738978 | Likely Benign: not provided | 13,372,284(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT | |
782713 | Benign: not provided | 13,356,772(+) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1658n54 | CNV | loss | 21841781 |
dgv1659n54 | CNV | loss | 21841781 |
esv24912 | CNV | loss | 19812545 |
esv26686 | CNV | gain | 19812545 |
esv3625409 | CNV | loss | 21293372 |
nsv553552 | CNV | gain | 21841781 |
nsv553554 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
delayed sleep phase disorder |
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rem sleep behavior disorder |
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advanced sleep phase syndrome |
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bipolar i disorder |
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bile duct cystadenoma |
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