SIM1
Single-minded homolog 1 (Drosophila) | |||||||||||
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Identifiers | |||||||||||
Symbols | SIM1 ; | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 3715 | ||||||||||
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RNA expression pattern | |||||||||||
File:PBB GE SIM1 206876 at tn.png | |||||||||||
More reference expression data | |||||||||||
Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
Single-minded homolog 1 (Drosophila), also known as SIM1, is a human gene.[1]
SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. SIM1 transcript was detected only in fetal kidney out of various adult and fetal tissues tested. Since the sim gene plays an important role in Drosophila development and has peak levels of expression during the period of neurogenesis,it was proposed that the human SIM gene is a candidate for involvement in certain dysmorphic features (particularly the facial and skull characteristics), abnormalities of brain development, and/or mental retardation of Down syndrome.[1]
References
Further reading
- Fan CM, Kuwana E, Bulfone A; et al. (1996). "Expression patterns of two murine homologs of Drosophila single-minded suggest possible roles in embryonic patterning and in the pathogenesis of Down syndrome". Mol. Cell. Neurosci. 7 (1): 1–16. doi:10.1006/mcne.1996.0001. PMID 8812055.
- Probst MR, Fan CM, Tessier-Lavigne M, Hankinson O (1997). "Two murine homologs of the Drosophila single-minded protein that interact with the mouse aryl hydrocarbon receptor nuclear translocator protein". J. Biol. Chem. 272 (7): 4451–7. PMID 9020169.
- Chrast R, Scott HS, Chen H; et al. (1997). "Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region". Genome Res. 7 (6): 615–24. PMID 9199934.
- Holder JL, Butte NF, Zinn AR (2000). "Profound obesity associated with a balanced translocation that disrupts the SIM1 gene". Hum. Mol. Genet. 9 (1): 101–8. PMID 10587584.
- Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. PMID 11076863.
- Michaud JL, Boucher F, Melnyk A; et al. (2001). "Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus". Hum. Mol. Genet. 10 (14): 1465–73. PMID 11448938.
- Woods SL, Whitelaw ML (2002). "Differential activities of murine single minded 1 (SIM1) and SIM2 on a hypoxic response element. Cross-talk between basic helix-loop-helix/per-Arnt-Sim homology transcription factors". J. Biol. Chem. 277 (12): 10236–43. doi:10.1074/jbc.M110752200. PMID 11782478.
- Faivre L, Cormier-Daire V, Lapierre JM; et al. (2002). "Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype". J. Med. Genet. 39 (8): 594–6. PMID 12161602.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Mungall AJ, Palmer SA, Sims SK; et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.
- Yamaki A, Kudoh J, Shimizu N, Shimizu Y (2004). "A novel nuclear localization signal in the human single-minded proteins SIM1 and SIM2". Biochem. Biophys. Res. Commun. 313 (3): 482–8. PMID 14697214.
- Meyre D, Lecoeur C, Delplanque J; et al. (2004). "A genome-wide scan for childhood obesity-associated traits in French families shows significant linkage on chromosome 6q22.31-q23.2". Diabetes. 53 (3): 803–11. PMID 14988267.
- Kublaoui BM, Holder JL, Tolson KP; et al. (2006). "SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake". Endocrinology. 147 (10): 4542–9. doi:10.1210/en.2006-0453. PMID 16709610.
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