BMAL1 - basic helix-loop-helix ARNT like 1 Gene

Also Known as TIC; JAP3; MOP3; ARNTL; PASD3; ARNTL1; BMAL1c; bHLHe5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 406

About BMAL1

Cytogenetic location: 11p15.3 Genomic coordinates (GRCh38): 11:13,276,652-13,387,266 (from NCBI)

This gene has 28 transcripts (splice variants), 243 orthologues and 6 paralogues. Ubiquitous expression in adrenal (RPKM 8.3), skin (RPKM 6.7) and 25 other tissues.

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. The protein regulates interferon-stimulated gene expression and is an important factor in viral Infection, including COVID-19. [provided by RefSeq, Oct 2021]

BMAL1 Products (27)

mRNA	Protein	Name
NM_001030272.3	NP_001025443.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform a
NM_001030273.3	NP_001025444.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform b
NM_001178.6	NP_001169.3	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform a
NM_001297719.2	NP_001284648.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform c
NM_001297722.2	NP_001284651.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform c
NM_001297724.2	NP_001284653.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform d
NM_001351804.1	NP_001338733.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform a
NM_001351805.2	NP_001338734.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform g
NM_001351806.2	NP_001338735.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform h
NM_001351807.2	NP_001338736.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform e
NM_001351808.2	NP_001338737.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform d
NM_001351809.2	NP_001338738.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform i
NM_001351810.2	NP_001338739.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform k
NM_001351811.2	NP_001338740.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform m
NM_001351812.2	NP_001338741.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform i
NM_001351813.2	NP_001338742.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform j
NM_001351814.2	NP_001338743.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform e
NM_001351815.2	NP_001338744.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform a
NM_001351816.2	NP_001338745.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform d
NM_001351817.2	NP_001338746.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform k
NM_001351818.2	NP_001338747.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform b
NM_001351819.2	NP_001338748.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform f
NM_001351820.2	NP_001338749.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform d
NM_001351821.2	NP_001338750.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform d
NM_001351822.2	NP_001338751.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform d
NM_001351823.2	NP_001338752.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform n
NM_001351824.2	NP_001338753.1	aryl hydrocarbon receptor nuclear translocator-like protein 1 isoform c

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA binding	IDA IDA: Inferred from direct assay	11441146	GOA
enables DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	25936801	GOA
enables E-box binding	IDA IDA: Inferred from direct assay	12738229	GOA
enables Hsp90 protein binding	IDA IDA: Inferred from direct assay	9079689	GOA
enables aryl hydrocarbon receptor binding	IPI IPI: Inferred from physical interaction	9079689	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11018023	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in circadian regulation of gene expression	IDA IDA: Inferred from direct assay	23229515	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	11441146	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	21628546	GOA
involved in positive regulation of circadian rhythm	IDA IDA: Inferred from direct assay	23229515	GOA
involved in positive regulation of protein acetylation	IMP IMP: Inferred from mutant phenotype	28985504	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	20093779	GOA
involved in regulation of hair cycle	IMP IMP: Inferred from mutant phenotype	24005054	GOA
involved in response to redox state	IDA IDA: Inferred from direct assay	11441146	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of CLOCK-BMAL transcription complex	IPI IPI: Inferred from physical interaction	23229515	GOA
located in nucleus	IDA IDA: Inferred from direct assay	23229515	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BMAL1 Protein Structure

HLH

PAS

PAS_11

0
100
200
300
400
500
625 a.a.

Protein Preferred Names	Protein Names
aryl hydrocarbon receptor nuclear translocator-like protein 1	ARNT-like protein 1, brain and muscle

BMAL1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BMAL1	O00327	HIF1A	Homo sapiens	D0VY79	Validated Y2H	25416956
Intra	BMAL1	O00327	HIF1A	Homo sapiens	D0VY79	Y2H Array	25416956
Intra	BMAL1	O00327	CLOCK	Homo sapiens	O15516	Anti Bait CoIP	28388406
Intra	BMAL1	O00327	CLOCK	Homo sapiens	O15516	Y2H Array	31515488
Intra	BMAL1	O00327	NPAS2	Homo sapiens	Q99743	Anti Tag CoIP	33961781
Intra	BMAL1	O00327	NPAS2	Homo sapiens	Q99743	Y2H Array	20211142

Cross: Cross-species interaction Intra: Intraspecies interaction

BMAL1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80033	BMAL1 Antibody (YA581)	WB, ICC/IF	Human, Mouse, Rat
HY-P85059	BMAL1 Antibody (YA4751)	WB, IHC-P, ICC/IF, ELISA	Human
HY-P86191	BMAL1 Antibody (YA5883)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Delayed Sleep Phase Disorder	Delayed Sleep Phase Syndrome Delayed Sleep Phase Syndrome, Susceptibility To DSPD Delayed Sleep Phase Disorder, Susceptibility To DSPS Sleep Phase, Delayed, Disorder Sleep Phase Syndrome, Delayed, Susceptibility To
Rem Sleep Behavior Disorder	Rapid Eye Movement Sleep Behavior Disorder Rem Sleep Behaviour Disorder Rapid Eye Movement Sleep Behaviour Disorder Rem - [Rapid Eye Movement] Behaviour Disorder
Advanced Sleep Phase Syndrome	Fasps Familial Advanced Sleep-Phase Syndrome Advanced Sleep Phase Syndrome, Familial Familial Advanced Sleep Phase Syndrome Sleep Phase Syndrome, Advanced, Familial Advanced Sleep-Phase Syndrome, Familial
Covid-19	2019 Novel Coronavirus 2019-Ncov Infection Covid19 Sars-Cov-2 Infection Wuhan Coronavirus Infection Wuhan Seafood Market Pneumonia Virus Infection
Sleep Disorder	Sleep Disorders Non-Organic Sleep Disorder
Major Depressive Disorder	Seasonal Affective Disorder Unipolar Depression Depression MDD Depressive Disorder Unipolar Depression, Susceptibility To Major Depressive Disorder 1 Major Depressive Disorder, Response To Citalopram Therapy In Major Depressive Disorder 2 Winter Depression Single Major Depressive Episode Sad Clinical Depression Major Depression Depressive Syndrome Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment Seasonal Affective Disorder, Susceptibility To Recurrent Major Depression Affective Disorder, Seasonal Depression In A Seasonal Pattern Depression Seasonal Major Depressive Disorder With A Seasonal Pattern Seasonal Depression Seasonal Mood Disorder Mental Depression Recurrent Major Depressive Episodes
Bile Duct Cystadenoma	Cystadenoma Of The Bile Duct
Bipolar Disorder	Bipolar Depression Manic Disorder Depression, Bipolar Bipolar Disorder Manic Phase Depressive-Manic Psych. Manic Bipolar Affective Disorder Manic Bipolar I Disorder Manic Depression Manic Depressive Disorder Mixed Bipolar Disorder Bipolar Affective Disorder Bipolar Affective Psychosis Bipolar Spectrum Disorder Manic Depressive Illness Depression Bipolar Bipolar Disorder, Mixed Major Affective Disorder Major Affective Disorder 1 Major Affective Disorder 2
Angelman Syndrome	AS Happy Puppet Syndrome Happy Puppet Syndrome, Formerly Puppetlike Syndrome
Apnea, Obstructive Sleep	Obstructive Sleep Apnea Syndrome Obstructive Sleep Apnea Sleep Apnea, Obstructive Osa Osas Sleep Apnea/Hypopnea Syndrome Sahs Upper Airway Resistance Sleep Apnea Syndrome Apnea, Obstructive Obstructive Apnea Osahs Sleep Apnea Hypopnea Syndrome Sleep Apnea Syndrome, Obstructive Sleep Apnea Obstructive Sleep Apnea Syndromes Obstructive Sleep Apnoea Syndrome Obstructive Sleep Apnoea, Adult Osa - [Obstructive Sleep Apnoea] Obstructive Sleep Apnoea, Paediatric Obstructive Sleep Apnoea Hypopnoea Syndrome Osa Syndrome Sleep Apnoea Nos [Sas] - Sleep Apnoea Syndrome Sleep Apnoea Syndrome [Osahs] - Obstructive Sleep Apnoea-Hypopnea Syndrome [Sahs] - Sleep Apnoea-Hypopnea Syndrome
Diabetes Mellitus	Diabetes
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (9)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-148765	CLK8	Inhibitor	98.06%	Unkown
HY-14414	GSK4112	Inhibitor	99.87%	Unkown
HY-148711	STL1267	Activator	99.83%	Unkown
HY-115672	KS15	Inhibitor	99.46%	Unkown
HY-N10319	Artepillin C		98.28%	Unkown
HY-RS01529	BMAL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-176851	GSK1362	Inhibitor	96.38%	Unkown
HY-RS23574	Bmal1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17129	Bmal1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	BMAL1	VGNC	VGNC:99550
Felis catus	BMAL1	VGNC	VGNC:81906
Bos taurus	BMAL1	VGNC	VGNC:54628
Canis familiaris	BMAL1	VGNC	VGNC:52062
Rattus norvegicus	BMAL1	RGD	RGD:62003
Mus musculus	BMAL1	MGD	MGI:1096381
Others	BMAL1	NCBI