Human Gene SIM1 (ENST00000369208.8) from GENCODE V44
Description: Homo sapiens SIM bHLH transcription factor 1 (SIM1), transcript variant 1, mRNA. (from RefSeq NM_005068) RefSeq Summary (NM_005068): 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 cognitive disability of Down syndrome. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Gencode Transcript: ENST00000369208.8 Gencode Gene: ENSG00000112246.10 Transcript (Including UTRs) Position: hg38 chr6:100,385,009-100,464,921 Size: 79,913 Total Exon Count: 12 Strand: - Coding Region Position: hg38 chr6:100,390,361-100,463,468 Size: 73,108 Coding Exon Count: 11
ID:SIM1_HUMAN DESCRIPTION: RecName: Full=Single-minded homolog 1; AltName: Full=Class E basic helix-loop-helix protein 14; Short=bHLHe14; FUNCTION: Transcriptional factor that may have pleiotropic effects during embryogenesis and in the adult. SUBUNIT: Efficient DNA binding requires dimerization with another bHLH protein. Heterodimer of SIM1 and ARNT. SUBCELLULAR LOCATION: Nucleus (Potential). SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain. SIMILARITY: Contains 1 PAC (PAS-associated C-terminal) domain. SIMILARITY: Contains 2 PAS (PER-ARNT-SIM) domains. SIMILARITY: Contains 1 Single-minded C-terminal domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SIM1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00010 - Helix-loop-helix DNA-binding domain PF00989 - PAS fold PF08447 - PAS fold PF06621 - Single-minded protein C-terminus
ModBase Predicted Comparative 3D Structure on P81133
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0046982 protein heterodimerization activity GO:0046983 protein dimerization activity
Biological Process: GO:0001657 ureteric bud development GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0007275 multicellular organism development GO:0007399 nervous system development GO:0030154 cell differentiation