BMAL1 basic helix-loop-helix ARNT like 1
Gene ID: 406, updated on 12-Nov-2024Gene type: protein coding
Also known as: TIC; JAP3; MOP3; ARNTL; PASD3; ARNTL1; BMAL1c; bHLHe5
- See all available tests in GTR for this gene
- Go to complete Gene record for BMAL1
- Go to Variation Viewer for BMAL1 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation. GeneReviews: Not available | |
| Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci. GeneReviews: Not available | |
| Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. GeneReviews: Not available | |
| Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. GeneReviews: Not available | |
| Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. GeneReviews: Not available |
Genomic context
- Location:
- 11p15.3
- Sequence:
- Chromosome: 11; NC_000011.10 (13276652..13387266)
- Total number of exons:
- 27
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BMAL1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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