Basic helix-loop-helix ARNT-like protein 1

ARNTL
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4H10
Identifiers
Aliases	ARNTL, BMAL1, BMAL1c, JAP3, MOP3, PASD3, TIC, bHLHe5, aryl hydrocarbon receptor nuclear translocator like
External IDs	OMIM: 602550; MGI: 1096381; HomoloGene: 910; GeneCards: ARNTL; OMA:ARNTL - orthologs
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7 F1|7 59.17 cM Start 112,806,672 bp End 112,913,333 bp
RNA expression pattern Bgee Human Mouse (ortholog) n/a Top expressed in secondary oocyte thymus sternocleidomastoid muscle suprachiasmatic nucleus temporal muscle triceps brachii muscle digastric muscle knee joint barrel cortex visual cortex BioGPS More reference expression data
Gene ontology Molecular function DNA binding Hsp90 protein binding protein dimerization activity DNA-binding transcription factor activity aryl hydrocarbon receptor binding protein binding transcription cis-regulatory region binding transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding core promoter sequence-specific DNA binding bHLH transcription factor binding sequence-specific DNA binding protein heterodimerization activity E-box binding DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific Cellular component cytoplasm PML body intracellular membrane-bounded organelle transcription regulator complex nucleoplasm nucleus nuclear body chromatoid body Biological process regulation of transcription, DNA-templated rhythmic process transcription, DNA-templated regulation of hair cycle transcription by RNA polymerase II spermatogenesis circadian rhythm negative regulation of TOR signaling circadian regulation of gene expression regulation of protein catabolic process positive regulation of circadian rhythm proteasome-mediated ubiquitin-dependent protein catabolic process negative regulation of fat cell differentiation negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription by RNA polymerase II regulation of neurogenesis regulation of insulin secretion regulation of cell cycle response to redox state maternal process involved in parturition positive regulation of canonical Wnt signaling pathway oxidative stress-induced premature senescence regulation of type B pancreatic cell development negative regulation of glucocorticoid receptor signaling pathway regulation of cellular senescence positive regulation of skeletal muscle cell differentiation positive regulation of protein acetylation negative regulation of cold-induced thermogenesis protein import into nucleus Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 406 11865 Ensembl ENSG00000133794 ENSMUSG00000055116 UniProt O00327 Q9WTL8 RefSeq (mRNA) NM_001030272 NM_001030273 NM_001178 NM_001297719 NM_001297722 NM_001297724 NM_001243048 NM_007489 NM_001357070 NM_001368412 NM_001374642 RefSeq (protein) NP_001025443 NP_001025444 NP_001169 NP_001284648 NP_001284651 NP_001284653 NP_001338733 NP_001338734 NP_001338735 NP_001338736 NP_001338737 NP_001338738 NP_001338739 NP_001338740 NP_001338741 NP_001338742 NP_001338743 NP_001338744 NP_001338745 NP_001338746 NP_001338747 NP_001338748 NP_001338749 NP_001338750 NP_001338751 NP_001338752 NP_001338753 NP_001229977 NP_031515 NP_001343999 NP_001355341 NP_001361571 Location (UCSC) n/a Chr 7: 112.81 – 112.91 Mb PubMed search
Wikidata
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Aryl hydrocarbon receptor nuclear translocator-like, also known as ARNTL, is a human gene.

The protein encoded by this gene is a basic-helix-loop-helix PAS (bHLH-PAS) domain containing protein that forms a heterodimer with a second bHLH-PAS protein, CLOCK. This complex binds to E-box response elements in promoter regions of many genes including two families of repressor proteins, the Per genes (Per1, Per2, Per3) and the Cryptochromes (Cry1 and Cry2). These repressor proteins are translated, and bind in a complex with casein kinase one epsilon (Csnk1e) and delta (Csnk1d). Next, the entire complex translocates to the nucleus, where it interacts with the Arntl/Clock heterodimer to inhibit its transactivation. Transcription of Period and Cryptochrome genes, therefore, is inhibited, the protein levels of Period and Cryptochrome genes drop, and eventually repression is relieved to allow their transcription builds up again. This process occurs with a period length of approximately 24 hours.

Three transcript variants encoding two different isoforms have been found for this gene.

Arntl (or Bmal1 or Mop3) is the only component of the mammalian circadian clock whose sole deletion in a mouse model generates arrhythmicity. In addition to defects in the clock, these Arntl null-mice also have reproductive problems, are small in stature, age quickly, and have progressive arthropathy that results in having less overall locomotor activity than wild type mice. Recent phenotyping data suggests that this gene and its partner also plays a role in regulation of metabolism.

Arntl transcription is regulated by Rev-erb-alpha and Ror alpha, which establishes a second interlocking loop in the mammalian circadian clock.