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Article

Characterization of human variants in obesity-related SIM1 protein identifies a hot-spot for dimerization with the partner protein ARNT2.

The Biochemical journal - 1 Aug 2014

Sullivan Adrienne E, Raimondo Anne, Schwab Tanja A, Bruning John B, Froguel Philippe, Farooqi I Sadaf, Peet Daniel J, Whitelaw Murray L

Abstract excerpt

The bHLH (basic helix-loop-helix) PAS (Per/Arnt/Sim) transcription factor SIM1 (single-minded 1) is important for development and function of regions of the hypothalamus that regulate energy homoeostasis and the feeding response. Low-activity SIM1 variants have been identified in individuals with severe early-onset obesity, but the underlying molecular causes of impaired function are unknown. In the present study...

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Share to Aryl Hydrocarbon Receptor Nuclear Translocator
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24814368
DOI: 10.1042/BJ20131618

Genes

SIM1
ARNT2
SIM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of human variants in obesity-related SIM1 protein identifies a hot-spot for dimerization with the partner protein ARNT2.PMID 24814368Read ↗

Replication and extension of association between common genetic variants in SIM1 and human adiposity.Semantic proximity Read ↗

Core and Flanking bHLH-PAS:DNA interactions mediate specificity and drive obesitySemantic proximity Read ↗

Studies of the SIM1 gene in relation to human obesity and obesity-related traits.Semantic proximity Read ↗

Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes.Semantic proximity Read ↗

Profound obesity associated with a balanced translocation that disrupts the SIM1 gene.Semantic proximity Read ↗

Mutation screen of the SIM1 gene in pediatric patients with early-onset obesity.Semantic proximity Read ↗

Human variants in the neuronal basic helix-loop-helix/Per-Arnt-Sim (bHLH/PAS) transcription factor complex NPAS4/ARNT2 disrupt function.Semantic proximity Read ↗

Functional characterization of SIM1-associated enhancers.Semantic proximity Read ↗

Identification of the downstream targets of SIM1 and ARNT2, a pair of transcription factors essential for neuroendocrine cell differentiation.Semantic proximity Read ↗

Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamusSemantic proximity Read ↗

Crucial Role of the SH2B1 PH Domain for the Control of Energy BalanceSemantic proximity Read ↗

The Participation of the Intrinsically Disordered Regions of the bHLH-PAS Transcription Factors in Disease Development.Semantic proximity Read ↗

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