ARNTL: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

ARNTL

Aliases

BMAL1, BMAL1c, JAP3, MOP3, PASD3, TIC, bHLHe5

Entrez Gene ID

406

Gene Name

Aryl hydrocarbon receptor nuclear translocator like

Chromosomal Location

11p15.3

HGNC ID

HGNC:701

Summary

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]

e!Ensembl

Gene	ENSG00000133794
Transcript	ENST00000529050, ENST00000534544, ENST00000527998, ENST00000533520, ENST00000529825, ENST00000389707, ENST00000401424, ENST00000529388, ENST00000530357, ENST00000403290, ENST00000403510, ENST00000482049, ENST00000531665, ENST00000403482, ENST00000524392
Protein	ENSP00000434044, ENSP00000431566, ENSP00000433540, ENSP00000431488, ENSP00000434263, ENSP00000374357, ENSP00000385915, ENSP00000433571, ENSP00000436313, ENSP00000384517, ENSP00000385581, ENSP00000436721, ENSP00000434781, ENSP00000385897, ENSP00000436442

Gene Ontology (GO)

Show/Hide all(20 )

GO ID	Ontology	Function	Evidence	Reference
GO:0032922	Biological process	Circadian regulation of gene expression	IDA	24005054
GO:0042634	Biological process	Regulation of hair cycle	IMP	24005054
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	IDA	11441146, 12738229, 23785138
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	IMP	21628546
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IDA	20093779
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IGI	9576906
GO:0051775	Biological process	Response to redox state	IDA	11441146
GO:0120163	Biological process	Negative regulation of cold-induced thermogenesis	ISS	25749863
GO:1901985	Biological process	Positive regulation of protein acetylation	IMP	28985504
GO:0005634	Cellular component	Nucleus	IDA	24005054
GO:0005667	Cellular component	Transcription factor complex	IPI	9576906
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	19274049
GO:0000981	Molecular function	DNA-binding transcription factor activity, RNA polymerase II-specific	NAS	19274049
GO:0003677	Molecular function	DNA binding	IDA	11441146
GO:0003677	Molecular function	DNA binding	IGI	9576906
GO:0005515	Molecular function	Protein binding	IPI	14645221, 21960634, 24385426, 24728990, 25416956, 28903391, 28985504, 29626158, 30530698
GO:0017162	Molecular function	Aryl hydrocarbon receptor binding	IPI	9079689
GO:0051879	Molecular function	Hsp90 protein binding	IDA	9079689
GO:0070491	Molecular function	Repressing transcription factor binding	IPI	25936801
GO:0070888	Molecular function	E-box binding	IDA	12738229, 23785138

Protein Information

Protein Name

Aryl hydrocarbon receptor nuclear translocator-like protein 1, ARNT-like protein 1, brain and muscle, PAS domain containing 3, PAS domain-containing protein 3, bHLH-PAS protein JAP3, basic helix-loop-helix family member e5, basic-helix-loop-helix-PAS orphan MOP3, basic-helix-loop-helix-PAS protein MOP3, brain and muscle ARNT-like 1, class E basic helix-loop-helix protein 5, member of PAS protein 3, member of PAS superfamily 3, testis tissue sperm-binding protein Li 50e

Function

UniProt

O00327

PDB

4H10