Functions and Diseases

RBP Type Non-canonical_RBPs
Diseases N.A.
Drug N.A.
Main interacting RNAs N.A.
Moonlighting functions Metabolic enzyme
Localizations N.A.
BulkPerturb-seq

Description

Ensembl ID ENSG00000133794 Gene ID 406 Accession 701
Symbol BMAL1 Alias TIC;JAP3;MOP3;ARNTL;PASD3;ARNTL1;BMAL1c;bHLHe5 Full Name basic helix-loop-helix ARNT like 1
Status Confidence Length 110615 bases Strand Plus strand
Position 11 : 13276652 - 13387266 RNA binding domain N.A.
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]

RNA binding domains (RBDs)

Protein Domain Pfam ID E-value Domain number

RNA binding proteomes (RBPomes)

Pubmed ID Full Name Cell Author Time Doi

Literatures on RNA binding capacity

Pubmed ID Title Author Time Journal
24449876 Mistimed sleep disrupts circadian regulation of the human transcriptome. N Simon Archer 2014-02-11 Proceedings of the National Academy of Sciences of the United States of America
33888702 Circadian clock dysfunction in human omental fat links obesity to metabolic inflammation. Eleonore Maury 2021-04-22 Nature communications

Transcripts

Name Transcript ID bp Protein Translation ID
BMAL1-213 ENST00000529050 571 23aa ENSP00000434044
BMAL1-221 ENST00000534544 807 59aa ENSP00000431566
BMAL1-212 ENST00000527998 519 76aa ENSP00000433540
BMAL1-214 ENST00000529388 2641 626aa ENSP00000433571
BMAL1-205 ENST00000403510 2728 626aa ENSP00000385581
BMAL1-219 ENST00000533520 567 100aa ENSP00000431488
BMAL1-216 ENST00000529825 551 63aa ENSP00000434263
BMAL1-201 ENST00000389707 2776 625aa ENSP00000374357
BMAL1-228 ENST00000674108 2788 66aa ENSP00000501035
BMAL1-217 ENST00000530357 868 63aa ENSP00000436313
BMAL1-207 ENST00000480685 633 No protein -
BMAL1-224 ENST00000673834 2786 86aa ENSP00000500983
BMAL1-222 ENST00000673626 2759 63aa ENSP00000500988
BMAL1-223 ENST00000673817 2854 630aa ENSP00000501212
BMAL1-203 ENST00000403290 2787 626aa ENSP00000384517
BMAL1-227 ENST00000673892 2745 63aa ENSP00000501106
BMAL1-226 ENST00000673888 2766 63aa ENSP00000501059
BMAL1-208 ENST00000482049 739 70aa ENSP00000436721
BMAL1-218 ENST00000531665 390 60aa ENSP00000434781
BMAL1-209 ENST00000485918 457 No protein -
BMAL1-204 ENST00000403482 2389 624aa ENSP00000385897
BMAL1-210 ENST00000497429 764 No protein -
BMAL1-225 ENST00000673868 1976 50aa ENSP00000500968
BMAL1-220 ENST00000534102 418 No protein -
BMAL1-215 ENST00000529390 591 No protein -
BMAL1-211 ENST00000524392 1421 171aa ENSP00000436442
BMAL1-206 ENST00000472842 3862 No protein -
BMAL1-202 ENST00000401424 2807 582aa ENSP00000385915

Pathways

Pathway ID Pathway Name Source

Phenotypes

ensgID Trait pValue Pubmed ID
15339Heart Failure1.3448144E-004-
15358Heart Failure3.2582624E-004-
29856Triglycerides6.7970000E-006-
36101Platelet Function Tests2.5700000E-005-
36102Platelet Function Tests2.5700000E-005-
60580Plasminogen Activator Inhibitor 14.3680000E-00624578379
60583Plasminogen Activator Inhibitor 11.3130000E-00724578379
60592Plasminogen Activator Inhibitor 19.9480000E-00824578379
60600Plasminogen Activator Inhibitor 15.0160000E-00724578379
60605Plasminogen Activator Inhibitor 11.2770000E-00624578379
60613Plasminogen Activator Inhibitor 12.8930000E-00624578379
60614Plasminogen Activator Inhibitor 13.1140000E-00824578379
64845Body Mass Index8E-625673413
65916Circadian Rhythm9E-626835600
66167Menarche7E-2025231870
67153Iron4E-1025352340
67154Transferrin4E-1025352340
70964Body Mass Index6E-625673413
84151Schizophrenia5E-623358160
92273C-Reactive Protein9E-927286809
92274Triglycerides9E-927286809
104138Plasminogen Activator Inhibitor 12E-1022990020

GWAS

ensgIDSNPChromosomePosition TraitPubmedIDOr or BEAT EFO ID

Protein-Protein Interaction (PPI)

Paralogs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Orthologs

Ensembl ID Source Target
Species Protein ID Perc_pos Perc_id Species Protein ID Perc_pos Perc_id

Gene Ontology

Go ID Go term No. evidence Entries Species Category
GO:0000785part_of chromatin1ISAHomo_sapiens(9606)Component
GO:0000976enables transcription cis-regulatory region binding1ISSHomo_sapiens(9606)Function
GO:0000978enables RNA polymerase II cis-regulatory region sequence-specific DNA binding2IBA,ISSHomo_sapiens(9606)Function
GO:0000981enables DNA-binding transcription factor activity, RNA polymerase II-specific3IBA,ISA,ISSHomo_sapiens(9606)Function
GO:0003677enables DNA binding1IDAHomo_sapiens(9606)Function
GO:0005515enables protein binding1IPIHomo_sapiens(9606)Function
GO:0005634is_active_in nucleus2IBA,IDAHomo_sapiens(9606)Component
GO:0005654located_in nucleoplasm2IDA,TASHomo_sapiens(9606)Component
GO:0006355involved_in regulation of DNA-templated transcription1ISSHomo_sapiens(9606)Process
GO:0006357involved_in regulation of transcription by RNA polymerase II1IBAHomo_sapiens(9606)Process
GO:0007283involved_in spermatogenesis1ISSHomo_sapiens(9606)Process
GO:0007623involved_in circadian rhythm1IBAHomo_sapiens(9606)Process
GO:0016605located_in PML body1IEAHomo_sapiens(9606)Component
GO:0017162enables aryl hydrocarbon receptor binding1IPIHomo_sapiens(9606)Function
GO:0032007involved_in negative regulation of TOR signaling1ISSHomo_sapiens(9606)Process
GO:0032922involved_in circadian regulation of gene expression2IDA,ISSHomo_sapiens(9606)Process
GO:0033391located_in chromatoid body1ISSHomo_sapiens(9606)Component
GO:0034751part_of aryl hydrocarbon receptor complex1IBAHomo_sapiens(9606)Component
GO:0042634involved_in regulation of hair cycle1IMPHomo_sapiens(9606)Process
GO:0042753involved_in positive regulation of circadian rhythm2IDA,ISSHomo_sapiens(9606)Process
GO:0043161involved_in proteasome-mediated ubiquitin-dependent protein catabolic process1ISSHomo_sapiens(9606)Process
GO:0043231located_in intracellular membrane-bounded organelle1IDAHomo_sapiens(9606)Component
GO:0043565enables sequence-specific DNA binding1ISSHomo_sapiens(9606)Function
GO:0045599involved_in negative regulation of fat cell differentiation1ISSHomo_sapiens(9606)Process
GO:0045892involved_in negative regulation of DNA-templated transcription1ISSHomo_sapiens(9606)Process
GO:0045893involved_in positive regulation of DNA-templated transcription2IDA,IMPHomo_sapiens(9606)Process
GO:0045944involved_in positive regulation of transcription by RNA polymerase II1IDAHomo_sapiens(9606)Process
GO:0046983enables protein dimerization activity1IEAHomo_sapiens(9606)Function
GO:0050767involved_in regulation of neurogenesis1ISSHomo_sapiens(9606)Process
GO:0050796involved_in regulation of insulin secretion1ISSHomo_sapiens(9606)Process
GO:0051726involved_in regulation of cell cycle1ISSHomo_sapiens(9606)Process
GO:0051775involved_in response to redox state1IDAHomo_sapiens(9606)Process
GO:0051879enables Hsp90 protein binding1IDAHomo_sapiens(9606)Function
GO:0070888enables E-box binding1IDAHomo_sapiens(9606)Function
GO:0090263involved_in positive regulation of canonical Wnt signaling pathway1ISSHomo_sapiens(9606)Process
GO:0090403involved_in oxidative stress-induced premature senescence1ISSHomo_sapiens(9606)Process
GO:0120163involved_in negative regulation of cold-induced thermogenesis1ISSHomo_sapiens(9606)Process
GO:0140297enables DNA-binding transcription factor binding1IPIHomo_sapiens(9606)Function
GO:1901985involved_in positive regulation of protein acetylation1IMPHomo_sapiens(9606)Process
GO:1990513part_of CLOCK-BMAL transcription complex1IPIHomo_sapiens(9606)Component
GO:1990837enables sequence-specific double-stranded DNA binding1IDAHomo_sapiens(9606)Function
GO:2000074involved_in regulation of type B pancreatic cell development1ISSHomo_sapiens(9606)Process
GO:2000323involved_in negative regulation of glucocorticoid receptor signaling pathway1ISSHomo_sapiens(9606)Process
GO:2000772involved_in regulation of cellular senescence1ISSHomo_sapiens(9606)Process
GO:2001016involved_in positive regulation of skeletal muscle cell differentiation1ISSHomo_sapiens(9606)Process

Expression