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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SIM1
SIM bHLH transcription factor 1
Chromosome 6 Β· 6q16.3
NCBI Gene: 6492Ensembl: ENSG00000112246.11HGNC: HGNC:10882UniProt: P81133
47PubMed Papers
20Diseases
0Drugs
11Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnucleuschromatinregulation of transcription by RNA polymerase IIobesity due to SIM1 deficiencyobesitySnoringAbnormality of the skeletal system
✦AI Summary

SIM1 is a basic helix-loop-helix transcription factor that plays critical roles in hypothalamic and pituitary development. 1 It functions as a DNA-binding transcriptional regulator that forms protein heterodimers to modulate gene expression through RNA polymerase II. 1 Mechanistically, SIM1 is essential for proper development of the paraventricular nucleus (PVN) of the hypothalamus. 1 SIM1 is expressed in hypothalamic neuroendocrine lineages generating oxytocin, arginine vasopressin, and other regulatory hormones. 2 Loss of SIM1 function results in a hypocellular PVN architecture. 1 SIM1 deficiency causes severe monogenic obesity in both mice and humans. 3 SIM1-deficient mice exhibit hyperphagia and severe obesity, 1 while human SIM1 mutations are associated with severe early-onset obesity, hyperphagia, and potentially hypopituitarism affecting multiple hormone axes. 2 Common SIM1 variants show associations with body mass index and weight gain in population studies, particularly in females. 1 Clinically, SIM1 mutations represent an important genetic cause of monogenic obesity. 3 CRISPR-mediated activation of SIM1 rescued obesity in heterozygous mice, suggesting gene therapy potential. 4 Pituitary hormone assessment is recommended in pediatric obesity patients with SIM1 abnormalities. 2

Sources cited
1
SIM1 is a basic helix-loop-helix transcription factor critical for PVN development; SIM1-deficient mice have hypocellular PVN and severe obesity with increased food intake; common SIM1 variants associate with BMI and weight gain
PMID: 16924270
2
SIM1 identified as a causative gene for monogenic obesity in humans
PMID: 36232301
3
SIM1 mutations cause severe early-onset obesity and potentially hypopituitarism; SIM1 expressed in hypothalamic neuroendocrine lineages producing oxytocin, arginine vasopressin, and other hormones
PMID: 33434169
4
CRISPR-mediated activation of SIM1 promoter or distant hypothalamic enhancer rescues obesity phenotype in SIM1 haploinsufficient mice
PMID: 30545847
5
SIM1 deficiency may involve abnormal hypothalamic oxytocin signaling relevant to metabolic dysfunction
PMID: 31803919
Disease Associationsβ“˜20
obesity due to SIM1 deficiencyOpen Targets
0.61Moderate
obesityOpen Targets
0.48Moderate
SnoringOpen Targets
0.44Moderate
Abnormality of the skeletal systemOpen Targets
0.42Moderate
genetic disorderOpen Targets
0.41Moderate
androgenetic alopeciaOpen Targets
0.41Moderate
Abruptio PlacentaeOpen Targets
0.40Weak
major depressive disorderOpen Targets
0.38Weak
Prader-Willi-like syndrome due to point mutationOpen Targets
0.37Weak
SIM1-related Prader-Willi-like syndromeOpen Targets
0.37Weak
insomniaOpen Targets
0.36Weak
neurotic disorderOpen Targets
0.34Weak
atrial fibrillationOpen Targets
0.33Weak
hearing lossOpen Targets
0.32Weak
amputationOpen Targets
0.31Weak
atherosclerosisOpen Targets
0.21Weak
thrombophiliaOpen Targets
0.19Weak
erectile dysfunctionOpen Targets
0.18Weak
monogenic diabetesOpen Targets
0.18Weak
atrial heart septal defectOpen Targets
0.18Weak
Pathogenic Variants11
NM_005068.3(SIM1):c.1302C>A (p.Cys434Ter)Pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 434
NM_005068.3(SIM1):c.309del (p.Met102_Tyr103insTer)Pathogenic
Obesity due to SIM1 deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 102
NM_005068.3(SIM1):c.641del (p.Gly214fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 214
NM_005068.3(SIM1):c.616del (p.Gln206fs)Pathogenic
Obesity due to SIM1 deficiency
β˜…β˜†β˜†β˜†2022β†’ Residue 206
NM_005068.3(SIM1):c.793_794del (p.Leu265fs)Likely pathogenic
SIM1-associated metabolic syndrome
β˜…β˜†β˜†β˜†2021β†’ Residue 265
NM_005068.3(SIM1):c.1438G>T (p.Gly480Ter)Likely pathogenic
SIM1-related disorder
β˜…β˜†β˜†β˜†2020β†’ Residue 480
NM_005068.3(SIM1):c.1298C>A (p.Ser433Ter)Likely pathogenic
not provided|Brachydactyly
β˜…β˜†β˜†β˜†2016β†’ Residue 433
NM_005068.3(SIM1):c.2123A>G (p.Lys708Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 708
NM_005068.3(SIM1):c.106C>T (p.Gln36Ter)Likely pathogenic
SIM1-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 36
NM_005068.3(SIM1):c.999-2A>GLikely pathogenic
SIM1-related disorder
β˜†β˜†β˜†β˜†2024
NM_005068.3(SIM1):c.1431C>A (p.Tyr477Ter)Likely pathogenic
SIM1-related disorder
β˜†β˜†β˜†β˜†2023β†’ Residue 477
View on ClinVar β†—
Related Genes
ARNTProtein interaction98%ARNT2Protein interaction98%POMCProtein interaction94%POU3F2Protein interaction86%MCHR2Protein interaction82%MC4RProtein interaction79%
Tissue Expression6 tissues
Liver
100%
Lung
0%
Brain
0%
Ovary
0%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
SIM1ARNTARNT2POMCPOU3F2MCHR2MC4R
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P81133
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.33Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.22 [0.15–0.33]
RankingsWhere SIM1 stands among ~20K protein-coding genes
  • #9,277of 20,598
    Most Researched47
  • #2,785of 5,498
    Most Pathogenic Variants11
  • #1,400of 17,882
    Most Constrained (LOEUF)0.33 Β· top 10%
Genes detectedSIM1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
CD36-mediated endocytosis of proteolysis-targeting chimeras.
PMID: 40250420
Cell Β· 2025
1.00
2
Genetics of Obesity in Humans: A Clinical Review.
PMID: 36232301
Int J Mol Sci Β· 2022
0.90
3
CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency.
PMID: 30545847
Science Β· 2019
0.80
4
Studies of the SIM1 gene in relation to human obesity and obesity-related traits.
PMID: 16924270
Int J Obes (Lond) Β· 2007
0.70
5
Epigenetic regulation of triple negative breast cancer (TNBC) by TGF-Ξ² signaling.
PMID: 34326372
Sci Rep Β· 2021
0.60