SIM1

SIM1
Identifiers
Aliases	SIM1, bHLHe14, single-minded family bHLH transcription factor 1
External IDs	MGI: 98306 HomoloGene: 3715 GeneCards: SIM1
Gene location (Human) Chr. Chromosome 6 (human) Band 6q16.3 Start 100,385,015 bp End 100,464,929 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10 B3|10 24.87 cM Start 50,894,754 bp End 50,989,152 bp
RNA expression pattern More reference expression data
Gene ontology Molecular function • transcription factor activity, sequence-specific DNA binding • RNA polymerase II transcription factor activity, sequence-specific DNA binding • DNA binding • protein dimerization activity • protein heterodimerization activity Cellular component • nucleus Biological process • regulation of transcription from RNA polymerase II promoter • multicellular organism development • cell differentiation • ureteric bud development • regulation of transcription, DNA-templated • transcription, DNA-templated • nervous system development Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6492	20464
Ensembl	ENSG00000112246	ENSMUSG00000019913
UniProt	P81133	Q61045
RefSeq (mRNA)	NM_005068	NM_011376
RefSeq (protein)	NP_005059	NP_035506
Location (UCSC)	Chr 6: 100.39 – 100.46 Mb	Chr 6: 50.89 – 50.99 Mb
PubMed search

6492

20464

ENSG00000112246

ENSMUSG00000019913

P81133

Q61045

NM_005068

NM_011376

NP_005059

NP_035506

Single-minded homolog 1 also known as class E basic helix-loop-helix protein 14 (bHLHe14) is a protein that in humans is encoded by the SIM1 gene.

SIM1 and SIM2 genes are homologs of Drosophila melanogaster single-minded (sim), so named because cells in the midline of the sim mutant embryo fail to properly develop and eventually die, and thus the paired longitudinal axon bundles that span the anterior-posterior axis of the embryo (analogous to the embryo's spinal cord) are collapsed into a "single" rudimentary axon bundle at the midline. Sim is a basic helix-loop-helix-PAS domain transcription factor that regulates gene expression in the midline cells. 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 SIM2 gene, which resides in a critical region of chromosome 21, is a candidate for involvement in certain dysmorphic features (particularly facial and skull characteristics), abnormalities of brain development, and/or mental retardation of Down syndrome.

...
Wikipedia