Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	406
Gene name Gene Name - the full gene name approved by the HGNC.	Basic helix-loop-helix ARNT like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BMAL1
Synonyms (NCBI Gene) Gene synonyms aliases	ARNTL, ARNTL1, BMAL1c, JAP3, MOP3, PASD3, TIC, bHLHe5
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11p15.3

Show/Hide all(116)

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

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
MTA1	Activation	24089055
NR1D1	Repression	21881539

Show/Hide all(55)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
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	21873635
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	IGI	9576906
GO:0005515	Function	Protein binding	IPI	11018023, 14645221, 21960634, 24385426, 24728990, 25416956, 28388406, 28903391, 28985504, 29626158, 30530698, 31515488
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	24005054
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IPI	9576906
GO:0006355	Process	Regulation of transcription, DNA-templated	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007283	Process	Spermatogenesis	ISS
GO:0007623	Process	Circadian rhythm	IBA	21873635
GO:0007623	Process	Circadian rhythm	TAS
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	24005054
GO:0032922	Process	Circadian regulation of gene expression	ISS
GO:0033391	Component	Chromatoid body	ISS
GO:0034751	Component	Aryl hydrocarbon receptor complex	IBA	21873635
GO:0042634	Process	Regulation of hair cycle	IMP	24005054
GO:0042753	Process	Positive regulation of circadian rhythm	ISS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	ISS
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043565	Function	Sequence-specific DNA binding	ISS
GO:0045599	Process	Negative regulation of fat cell differentiation	ISS
GO:0045892	Process	Negative regulation of transcription, DNA-templated	ISS
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	11441146, 12738229, 23785138
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IMP	21628546
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	20093779
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	9576906
GO:0046983	Function	Protein dimerization activity	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:0090263	Process	Positive regulation of canonical Wnt signaling pathway	ISS
GO:0090403	Process	Oxidative stress-induced premature senescence	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: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 glucocorticoid receptor signaling pathway	ISS
GO:2000772	Process	Regulation of cellular senescence	ISS
GO:2001016	Process	Positive regulation of skeletal muscle cell differentiation	ISS

MIM	HGNC	e!Ensembl
602550	701	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

Interactions

View interactions

	KEGG		Reactome
	Circadian rhythm Dopaminergic synapse		BMAL1:CLOCK,NPAS2 activates circadian gene expression

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537	29212778, 28714975
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	24652800

Show/Hide Unknown Diseases (11)

Disease term	Disease name	Evidence	References	Source
Unknown
Mental depression	Mental Depression, Depressive disorder		24673294, 19693801, 19708722	ClinVar
Neuroticism	Neuroticism			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Schizophrenia	Schizophrenia			GWAS
Pancreatic cancer	Pancreatic cancer	Genome-Wide CRISPR Screening Identifies DCK and CCNL1 as Genes That Contribute to Gemcitabine Resistance in Pancreatic Cancer		GWAS, CBGDA
Diabetes	Diabetes			GWAS
Psoriasis	Psoriasis			GWAS
Acne	Acne			GWAS
Hypertension	Hypertension			GWAS
Irritable Bowel Syndrome	Irritable Bowel Syndrome			GWAS
Heart Failure	Heart Failure			GWAS

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