ARNTL

Also known as BMAL1, BMAL1c, JAP3, MOP3, PASD3, TIC, bHLHe5, aryl hydrocarbon receptor nuclear translocator like

protein-coding gene in the species Homo sapiens

Gene data

BMAL1

Name: basic helix-loop-helix ARNT like 1
Type: protein-coding
Position: 13,276,647–13,388,048 (+)
Aliases: ARNTL, ARNTL1, BMAL1c, JAP3, MOP3, PASD3, TIC, bHLHe5
Ensembl: ENSG00000133794
RefSeq RNA: NM_001030272.3, NM_001030273.3, NM_001178.6, NM_001297719.2, NM_001297722.2
RefSeq protein: NP_001025443.1, NP_001025444.1, NP_001169.3, NP_001284648.1, NP_001284651.1

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].

Gene Ontology

Biological process

regulation of DNA-templated transcription regulation of DNA-templated transcription regulation of transcription by RNA polymerase II spermatogenesis circadian rhythm circadian rhythm negative regulation of TOR signaling circadian regulation of gene expression

Molecular function

transcription cis-regulatory region binding RNA polymerase II cis-regulatory region sequence-specific DNA binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA binding DNA-binding transcription factor activity

Cellular component

chromatin nucleus nucleus nucleus nucleus nucleoplasm nucleoplasm transcription regulator complex

Pathways

Circadian rhythm - Homo sapiens (human)Dopaminergic synapse - Homo sapiens (human)BMAL1:CLOCK,NPAS2 activates circadian expression BMAL1:CLOCK,NPAS2 activates circadian expression Metabolism PPARA activates gene expression Generic Transcription Pathway Generic Transcription Pathway Cellular responses to stress Regulation of lipid metabolism by PPARalpha

via MyGene.info

Gene · Ensembl

basic helix-loop-helix ARNT like 1

Symbol: BMAL1
Biotype: Protein coding
Organism: Homo sapiens
Location: 11:13,276,647-13,388,048
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene

Show 4 more facts

HomoloGene ID: 910
genetic association: schizophrenia
exact match: identifiers.org/ncbigene/406
found in taxon: Homo sapiens

Sources (6)

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