Property Summary

NCBI Gene PubMed Count 33
Grant Count 72
R01 Count 39
Funding $6,753,823.88
PubMed Score 76.27
PubTator Score 49.75

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
malignant mesothelioma 3.100 0.000
group 4 medulloblastoma 2.700 0.002
medulloblastoma, large-cell 2.700 0.000
Hydrolethalus syndrome 1.396 0.032

Synonym

Accession P81133 Q5TDP7
Symbols bHLHe14

Gene

Gene RIF (23)

PMID Text
25614457 Aberrant DNA methylation of the DLX4 and SIM1 genes may be a novel progression marker for uterine cervical low-grade squamous intraepithelial lesions.
25351778 Genotype-phenotype correlations confirmed the major role for SIM1 haploinsufficiency in obesity and the Prader-Willi-like phenotype
25234154 Severe loss-of-function SIM1 mutations can be associated with a spectrum of developmental delay phenotypes and obesity.
24814368 Data suggest selected SIM1 variants exhibit poor dimerization with ARNT2 (aryl-hydrocarbon receptor nuclear translocator 2) and anomalous intracellular localization; data were used to predict spot in SIM1/SIM2 (residues 290-326) critical in function.
24635660 Study found a statistically significant association between the SIM1 SNP rs3734354 (Pro352Thr) and scores for language impairment (p = .0004), but due to low statistical power this should be interpreted cautiously
24203700 two brain enhancers in the SIM1 locus are characterized with a set of obesity-specific SNPs within one of them, which may predispose individuals to obesity.
24097297 functional in vitro analysis of SIM1 variants may help in distinguishing benign variants of no pathogenic significance from variants which contribute to the obesity phenotype.
24038875 Hence, we suggest that detailed endocrine evaluation and longitudinal endocrine follow up be performed in individuals with proximal interstitial 6q deletion involving SIM1
23778139 Phenotypic similarities between patients with SIM1 deficiency and MC4R deficiency suggest that some of the effects of SIM1 deficiency on energy homeostasis are mediated by altered melanocortin signaling.
23778136 A link between SIM1 loss of function and severe obesity associated with, or independent of, Prader-Willi-like features.
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AA Sequence

MKEKSKNAARTRREKENSEFYELAKLLPLPSAITSQLDKASIIRLTTSYLKMRVVFPEGLGEAWGHSSRT      1 - 70
SPLDNVGRELGSHLLQTLDGFIFVVAPDGKIMYISETASVHLGLSQVELTGNSIYEYIHPADHDEMTAVL     71 - 140
TAHQPYHSHFVQEYEIERSFFLRMKCVLAKRNAGLTCGGYKVIHCSGYLKIRQYSLDMSPFDGCYQNVGL    141 - 210
VAVGHSLPPSAVTEIKLHSNMFMFRASLDMKLIFLDSRVAELTGYEPQDLIEKTLYHHVHGCDTFHLRCA    211 - 280
HHLLLVKGQVTTKYYRFLAKHGGWVWVQSYATIVHNSRSSRPHCIVSVNYVLTDTEYKGLQLSLDQISAS    281 - 350
KPAFSYTSSSTPTMTDNRKGAKSRLSSSKSKSRTSPYPQYSGFHTERSESDHDSQWGGSPLTDTASPQLL    351 - 420
DPADRPGSQHDASCAYRQFSDRSSLCYGFALDHSRLVEERHFHTQACEGGRCEAGRYFLGTPQAGREPWW    421 - 490
GSRAALPLTKASPESREAYENSMPHIASVHRIHGRGHWDEDSVVSSPDPGSASESGDRYRTEQYQSSPHE    491 - 560
PSKIETLIRATQQMIKEEENRLQLRKAPSDQLASINGAGKKHSLCFANYQQPPPTGEVCHGSALANTSPC    561 - 630
DHIQQREGKMLSPHENDYDNSPTALSRISSPNSDRISKSSLILAKDYLHSDISPHQTAGDHPTVSPNCFG    631 - 700
SHRQYFDKHAYTLTGYALEHLYDSETIRNYSLGCNGSHFDVTSHLRMQPDPAQGHKGTSVIITNGS        701 - 766
//

Text Mined References (33)

PMID Year Title
25614457 2015 Aberrant DNA methylation of DLX4 and SIM1 is a predictive marker for disease progression of uterine cervical low-grade squamous intraepithelial lesion.
25351778 2015 Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
25234154 2014 Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay.
25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
24814368 2014 Characterization of human variants in obesity-related SIM1 protein identifies a hot-spot for dimerization with the partner protein ARNT2.
24635660 2014 Associations between oxytocin-related genes and autistic-like traits.
24203700 2014 Functional characterization of SIM1-associated enhancers.
24097297 2014 Mutation screen of the SIM1 gene in pediatric patients with early-onset obesity.
24038875 2013 Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features.
23778139 2013 Rare variants in single-minded 1 (SIM1) are associated with severe obesity.
More...