BMAL1 (basic helix-loop-helix ARNT like 1)

Gene

• Entrez ID: 406
• Gene name: Basic helix-loop-helix ARNT like 1
• Gene symbol: BMAL1
• Synonyms (NCBI Gene): ARNTL, ARNTL1, BMAL1c, JAP3, MOP3, PASD3, TIC, bHLHe5
• Chromosome: 11
• Chromosome location: 11p15.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006653	hsa-miR-494-3p	Luciferase reporter assay, qRT-PCR	21799909
MIRT006654	hsa-miR-142-3p	Luciferase reporter assay, qRT-PCR	21799909
MIRT006654	hsa-miR-142-3p	Luciferase reporter assay	22958478
MIRT018183	hsa-miR-335-5p	Microarray	18185580
MIRT006654	hsa-miR-142-3p	Microarray	17612493
MIRT006654	hsa-miR-142-3p	Luciferase reporter assay, QRTPCR, Western blot	24928439
MIRT539092	hsa-miR-27a-3p	PAR-CLIP	21572407
MIRT539091	hsa-miR-27b-3p	PAR-CLIP	21572407
MIRT539090	hsa-miR-548a-3p	PAR-CLIP	21572407
MIRT539089	hsa-miR-548ar-3p	PAR-CLIP	21572407
MIRT539088	hsa-miR-548az-3p	PAR-CLIP	21572407
MIRT539087	hsa-miR-548e-3p	PAR-CLIP	21572407
MIRT539086	hsa-miR-548f-3p	PAR-CLIP	21572407
MIRT539085	hsa-miR-5582-3p	PAR-CLIP	21572407
MIRT539084	hsa-miR-4494	PAR-CLIP	21572407
MIRT539083	hsa-miR-3607-3p	PAR-CLIP	21572407
MIRT539082	hsa-miR-513a-5p	PAR-CLIP	21572407
MIRT539092	hsa-miR-27a-3p	PAR-CLIP	21572407
MIRT539091	hsa-miR-27b-3p	PAR-CLIP	21572407
MIRT539090	hsa-miR-548a-3p	PAR-CLIP	21572407
MIRT539089	hsa-miR-548ar-3p	PAR-CLIP	21572407
MIRT539088	hsa-miR-548az-3p	PAR-CLIP	21572407
MIRT539087	hsa-miR-548e-3p	PAR-CLIP	21572407
MIRT539086	hsa-miR-548f-3p	PAR-CLIP	21572407
MIRT539085	hsa-miR-5582-3p	PAR-CLIP	21572407
MIRT539084	hsa-miR-4494	PAR-CLIP	21572407
MIRT539083	hsa-miR-3607-3p	PAR-CLIP	21572407
MIRT539082	hsa-miR-513a-5p	PAR-CLIP	21572407
MIRT539092	hsa-miR-27a-3p	PAR-CLIP	22012620
MIRT539091	hsa-miR-27b-3p	PAR-CLIP	22012620
MIRT539090	hsa-miR-548a-3p	PAR-CLIP	22012620
MIRT539089	hsa-miR-548ar-3p	PAR-CLIP	22012620
MIRT539088	hsa-miR-548az-3p	PAR-CLIP	22012620
MIRT539087	hsa-miR-548e-3p	PAR-CLIP	22012620
MIRT539086	hsa-miR-548f-3p	PAR-CLIP	22012620
MIRT539085	hsa-miR-5582-3p	PAR-CLIP	22012620
MIRT539084	hsa-miR-4494	PAR-CLIP	22012620
MIRT539083	hsa-miR-3607-3p	PAR-CLIP	22012620
MIRT539082	hsa-miR-513a-5p	PAR-CLIP	22012620
MIRT006654	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT494653	hsa-miR-548ac	PAR-CLIP	23592263
MIRT494652	hsa-miR-548bb-3p	PAR-CLIP	23592263
MIRT494651	hsa-miR-548d-3p	PAR-CLIP	23592263
MIRT494650	hsa-miR-548h-3p	PAR-CLIP	23592263
MIRT494649	hsa-miR-548z	PAR-CLIP	23592263
MIRT494648	hsa-miR-548ae-3p	PAR-CLIP	23592263
MIRT494647	hsa-miR-548ah-3p	PAR-CLIP	23592263
MIRT494646	hsa-miR-548aj-3p	PAR-CLIP	23592263
MIRT494645	hsa-miR-548am-3p	PAR-CLIP	23592263
MIRT494644	hsa-miR-548aq-3p	PAR-CLIP	23592263
MIRT494643	hsa-miR-548j-3p	PAR-CLIP	23592263
MIRT494642	hsa-miR-548x-3p	PAR-CLIP	23592263
MIRT494641	hsa-miR-21-3p	PAR-CLIP	23592263
MIRT494640	hsa-miR-3591-3p	PAR-CLIP	23592263
MIRT494639	hsa-miR-4280	PAR-CLIP	23592263
MIRT494638	hsa-miR-6505-3p	PAR-CLIP	23592263
MIRT494637	hsa-miR-6073	PAR-CLIP	23592263
MIRT494636	hsa-miR-6844	PAR-CLIP	23592263
MIRT494635	hsa-miR-3674	PAR-CLIP	23592263
MIRT734393	hsa-miR-10a-5p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blotting	31832575
MIRT539092	hsa-miR-27a-3p	PAR-CLIP	21572407
MIRT539091	hsa-miR-27b-3p	PAR-CLIP	21572407
MIRT539090	hsa-miR-548a-3p	PAR-CLIP	21572407
MIRT539089	hsa-miR-548ar-3p	PAR-CLIP	21572407
MIRT539088	hsa-miR-548az-3p	PAR-CLIP	21572407
MIRT539087	hsa-miR-548e-3p	PAR-CLIP	21572407
MIRT539086	hsa-miR-548f-3p	PAR-CLIP	21572407
MIRT539085	hsa-miR-5582-3p	PAR-CLIP	21572407
MIRT539084	hsa-miR-4494	PAR-CLIP	21572407
MIRT539083	hsa-miR-3607-3p	PAR-CLIP	21572407
MIRT539082	hsa-miR-513a-5p	PAR-CLIP	21572407
MIRT539092	hsa-miR-27a-3p	PAR-CLIP	21572407
MIRT539091	hsa-miR-27b-3p	PAR-CLIP	21572407
MIRT539090	hsa-miR-548a-3p	PAR-CLIP	21572407
MIRT539089	hsa-miR-548ar-3p	PAR-CLIP	21572407
MIRT539088	hsa-miR-548az-3p	PAR-CLIP	21572407
MIRT539087	hsa-miR-548e-3p	PAR-CLIP	21572407
MIRT539086	hsa-miR-548f-3p	PAR-CLIP	21572407
MIRT539085	hsa-miR-5582-3p	PAR-CLIP	21572407
MIRT539084	hsa-miR-4494	PAR-CLIP	21572407
MIRT539083	hsa-miR-3607-3p	PAR-CLIP	21572407
MIRT539082	hsa-miR-513a-5p	PAR-CLIP	21572407
MIRT539092	hsa-miR-27a-3p	PAR-CLIP	22012620
MIRT539091	hsa-miR-27b-3p	PAR-CLIP	22012620
MIRT539090	hsa-miR-548a-3p	PAR-CLIP	22012620
MIRT539089	hsa-miR-548ar-3p	PAR-CLIP	22012620
MIRT539088	hsa-miR-548az-3p	PAR-CLIP	22012620
MIRT539087	hsa-miR-548e-3p	PAR-CLIP	22012620
MIRT539086	hsa-miR-548f-3p	PAR-CLIP	22012620
MIRT539085	hsa-miR-5582-3p	PAR-CLIP	22012620
MIRT539084	hsa-miR-4494	PAR-CLIP	22012620
MIRT539083	hsa-miR-3607-3p	PAR-CLIP	22012620
MIRT539082	hsa-miR-513a-5p	PAR-CLIP	22012620
MIRT006654	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT494653	hsa-miR-548ac	PAR-CLIP	23592263
MIRT494652	hsa-miR-548bb-3p	PAR-CLIP	23592263
MIRT494651	hsa-miR-548d-3p	PAR-CLIP	23592263
MIRT494650	hsa-miR-548h-3p	PAR-CLIP	23592263
MIRT494649	hsa-miR-548z	PAR-CLIP	23592263
MIRT494648	hsa-miR-548ae-3p	PAR-CLIP	23592263
MIRT494647	hsa-miR-548ah-3p	PAR-CLIP	23592263
MIRT494646	hsa-miR-548aj-3p	PAR-CLIP	23592263
MIRT494645	hsa-miR-548am-3p	PAR-CLIP	23592263
MIRT494644	hsa-miR-548aq-3p	PAR-CLIP	23592263
MIRT494643	hsa-miR-548j-3p	PAR-CLIP	23592263
MIRT494642	hsa-miR-548x-3p	PAR-CLIP	23592263
MIRT494641	hsa-miR-21-3p	PAR-CLIP	23592263
MIRT494640	hsa-miR-3591-3p	PAR-CLIP	23592263
MIRT494639	hsa-miR-4280	PAR-CLIP	23592263
MIRT494638	hsa-miR-6505-3p	PAR-CLIP	23592263
MIRT494637	hsa-miR-6073	PAR-CLIP	23592263
MIRT494636	hsa-miR-6844	PAR-CLIP	23592263
MIRT494635	hsa-miR-3674	PAR-CLIP	23592263
MIRT799638	hsa-miR-4320	CLIP-seq
MIRT799639	hsa-miR-600	CLIP-seq
MIRT799640	hsa-miR-624	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS
GO:0003677	Function	DNA binding	IDA	11441146
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003712	Function	Transcription coregulator activity	ISS
GO:0005515	Function	Protein binding	IPI	11018023, 14645221, 20211142, 21960634, 24385426, 24722188, 24728990, 25416956, 28388406, 28514442, 28903391, 28985504, 29626158, 30530698, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	23229515, 24005054
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007283	Process	Spermatogenesis	ISS
GO:0007623	Process	Circadian rhythm	IBA
GO:0007623	Process	Circadian rhythm	TAS	9616112
GO:0016605	Component	PML body	IEA
GO:0017162	Function	Aryl hydrocarbon receptor binding	IPI	9079689
GO:0032007	Process	Negative regulation of TOR signaling	ISS
GO:0032922	Process	Circadian regulation of gene expression	IDA	23229515, 24005054
GO:0032922	Process	Circadian regulation of gene expression	IEA
GO:0032922	Process	Circadian regulation of gene expression	ISS
GO:0033391	Component	Chromatoid body	ISS
GO:0034751	Component	Aryl hydrocarbon receptor complex	IBA
GO:0042634	Process	Regulation of hair cycle	IMP	24005054
GO:0042753	Process	Positive regulation of circadian rhythm	IDA	23229515
GO:0042753	Process	Positive regulation of circadian rhythm	IEA
GO:0042753	Process	Positive regulation of circadian rhythm	ISS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	ISS
GO:0043565	Function	Sequence-specific DNA binding	ISS
GO:0045599	Process	Negative regulation of fat cell differentiation	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	11441146, 12738229, 23229515, 23785138
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	21628546
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	20093779
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0050767	Process	Regulation of neurogenesis	ISS
GO:0050796	Process	Regulation of insulin secretion	ISS
GO:0051726	Process	Regulation of cell cycle	ISS
GO:0051775	Process	Response to redox state	IDA	11441146
GO:0051879	Function	Hsp90 protein binding	IDA	9079689
GO:0070888	Function	E-box binding	IDA	12738229, 23785138
GO:0070888	Function	E-box binding	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	ISS
GO:0090403	Process	Oxidative stress-induced premature senescence	ISS
GO:0097009	Process	Energy homeostasis	ISS
GO:0097009	Process	Energy homeostasis	ISS
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	25749863
GO:0140297	Function	DNA-binding transcription factor binding	IPI	25936801
GO:1901985	Process	Positive regulation of protein acetylation	IMP	28985504
GO:1990513	Component	CLOCK-BMAL transcription complex	IEA
GO:1990513	Component	CLOCK-BMAL transcription complex	IPI	23229515
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000074	Process	Regulation of type B pancreatic cell development	ISS
GO:2000323	Process	Negative regulation of nuclear receptor-mediated glucocorticoid signaling pathway	ISS
GO:2000772	Process	Regulation of cellular senescence	ISS
GO:2001016	Process	Positive regulation of skeletal muscle cell differentiation	ISS

Other IDs

• MIM: 602550
• HGNC: 701
• e!Ensembl: ENSG00000133794

Protein

• UniProt ID: O00327
• Protein name: Basic helix-loop-helix ARNT-like protein 1 (Aryl hydrocarbon receptor nuclear translocator-like protein 1) (Basic-helix-loop-helix-PAS protein MOP3) (Brain and muscle ARNT-like 1) (Class E basic helix-loop-helix protein 5) (bHLHe5) (Member of PAS protein
• Protein function: Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in g
• PDB: 4H10, 8RW6, 8RW8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00010	HLH	73 → 126	Helix-loop-helix DNA-binding domain	Domain
  PF00989	PAS	146 → 253	PAS fold	Domain
  PF14598	PAS_11	337 → 444		Domain

• Tissue specificity: TISSUE SPECIFICITY: Hair follicles (at protein level). Highly expressed in the adult brain, skeletal muscle and heart. {ECO:0000269|PubMed:24005054}.
• Sequence:

  MADQRMDISSTISDFMSPGPTDLLSSSLGTSGVDCNRKRKGSSTDYQESMDTDKDDPHGR
  LEYTEHQGRIKNAREAHSQIEKRRRDKMNSFIDELASLVPTCNAMSRKLDKLTVLRMAVQ
  HMKTLRGATNPYTEANYKPTFLSDDELKHLILRAADGFLFVVGCDRGKILFVSESVFKIL
  NYSQNDLIGQSLFDYLHPKDIAKVKEQLSSSDTAPRERLIDAKTGLPVKTDITPGPSRLC
  SGARRSFFCRMKCNRPSVKVEDKDFPSTCSKKKADRKSFCTIHSTGYLKSWPPTKMGLDE
  DNEPDNEGCNLSCLVAIGRLHSHVVPQPVNGEIRVKSMEYVSRHAIDGKFVFVDQRATAI
  LAYLPQELLGTSCYEYFHQDDIGHLAECHRQVLQTREKITTNCYKFKIKDGSFITLRSRW
  FSFMNPWTKEVEYIVSTNTVVLANVLEGGDPTFPQLTASPHSMDSMLPSGEGGPKRTHPT
  VPGIPGGTRAGAGKIGRMIAEEIMEIHRIRGSSPSSCGSSPLNITSTPPPDASSPGGKKI
  LNGGTPDIPSSGLLSGQAQENPGYPYSDSSSILGENPHIGIDMIDNDQGSSSPSNDEAAM
  AVIMSLLEADAGLGGPVDFSDLPWPL

• Sequence length: 626

Pathways

KEGG:

Circadian rhythm
Dopaminergic synapse

Reactome:

BMAL1:CLOCK,NPAS2 activates circadian gene expression

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUDITORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERARGININEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, FEMALE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL AFFECTIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations