6q16 copy number variation (WP5400)
Homo sapiens
SIM1 is the only gene found in the region 6q12 (chr6:100,836,750-100,911,811). A deletion or loss of function results in developmental delay and neuropsyschiatric disorders as well as severe obesity. SIM1 is a transcription factor responsible for several processes in neurogenesis and is stimulated by the leptin-melanocortin pathway.
Authors
Friederike Ehrhart and Eric WeitzActivity
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Cited In
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Organisms
Homo sapiensCommunities
Annotations
Pathway Ontology
leptin system pathway disease pathway melanocortin system pathwayDisease Ontology
Down syndromeLabel | Type | Compact URI | Comment |
---|---|---|---|
NPY | GeneProduct | ensembl:ENSG00000122585 | |
ARNT | GeneProduct | ensembl:ENSG00000143437 | |
LEP | GeneProduct | ensembl:ENSG00000174697 | |
SIM1 | GeneProduct | ensembl:ENSG00000112246 | |
GHRL | GeneProduct | ensembl:ENSG00000157017 | |
MC4R | GeneProduct | ensembl:ENSG00000166603 | |
POMC | GeneProduct | ensembl:ENSG00000115138 | |
BDNF | GeneProduct | ensembl:ENSG00000176697 | |
INSR | GeneProduct | ensembl:ENSG00000171105 | |
AGRP | GeneProduct | ensembl:ENSG00000159723 | |
GHSR | GeneProduct | ensembl:ENSG00000121853 | |
INS | GeneProduct | ensembl:ENSG00000254647 | |
NTRK2 | GeneProduct | ensembl:ENSG00000148053 | |
LEPR | GeneProduct | ensembl:ENSG00000116678 |
References
- Two murine homologs of the Drosophila single-minded protein that interact with the mouse aryl hydrocarbon receptor nuclear translocator protein. Probst MR, Fan CM, Tessier-Lavigne M, Hankinson O. J Biol Chem. 1997 Feb 14;272(7):4451–7. PubMed Europe PMC Scholia
- 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. Woods SL, Whitelaw ML. J Biol Chem. 2002 Mar 22;277(12):10236–43. PubMed Europe PMC Scholia
- Unraveling the genetics of human obesity. Mutch DM, Clément K. PLoS Genet. 2006 Dec 29;2(12):e188. PubMed Europe PMC Scholia