Basic helix-loop-helix ARNT-like protein 1

Basic helix-loop-helix ARNT-like protein 1 or aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL), or brain and muscle ARNT-like 1 is a protein that in humans is encoded by the BMAL1 gene on chromosome 11, region p15.3. It's also known as MOP3, and, less commonly, bHLHe5, BMAL, BMAL1C, JAP3, PASD3, and TIC.

ARNTL
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesARNTL, BMAL1, BMAL1c, JAP3, MOP3, PASD3, TIC, bHLHe5, aryl hydrocarbon receptor nuclear translocator like
External IDsOMIM: 602550 MGI: 1096381 HomoloGene: 910 GeneCards: ARNTL
Orthologs
SpeciesHumanMouse
Entrez

406

11865

Ensembl

ENSG00000133794

ENSMUSG00000055116

UniProt

O00327

Q9WTL8

RefSeq (mRNA)

NM_001243048
NM_007489
NM_001357070
NM_001368412
NM_001374642

RefSeq (protein)

NP_001229977
NP_031515
NP_001343999
NP_001355341
NP_001361571

Location (UCSC)n/aChr 7: 112.81 – 112.91 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

BMAL1 encodes a transcription factor with a basic helix-loop-helix (bHLH) and two PAS domains. The human BMAL1 gene has a predicted 24 exons, located on the p15 band of the 11th chromosome. The BMAL1 protein is 626 amino acids long and plays a key role as one of the positive elements in the mammalian auto-regulatory transcription-translation negative feedback loop (TTFL), which is responsible for generating molecular circadian rhythms. Research has revealed that BMAL1 is the only clock gene without which the circadian clock fails to function in humans. BMAL1 has also been identified as a candidate gene for susceptibility to hypertension, diabetes, and obesity, and mutations in BMAL1 have been linked to infertility, gluconeogenesis and lipogenesis problems, and altered sleep patterns. BMAL1, according to genome-wide profiling, is estimated to target more than 150 sites in the human genome, including all of the clock genes and genes encoding for proteins that regulate metabolism.

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