SIM1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | SIM1 |
| Official Name | SIM bHLH transcription factor 1 [Source:HGNC Symbol;Acc:HGNC:10882] |
| Ensembl ID | ENSG00000112246 |
| Bio databases IDs | |
| Aliases | SIM bHLH transcription factor 1 |
| Synonyms | bHLHe14, mSIM1, SIM bHLH transcription factor 1, single-minded family bHLH transcription factor 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SIM1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- PAS
- basic Helix Loop Helix (bHLH) domain superfamily
- protein binding
- PAS fold
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- PAS domain
- helix loop helix domain
- Motif C-terminal to PAS motifs (likely to contribute to PAS structural domain)
- Helix-loop-helix DNA-binding domain
- transcription factor activity
- Single-minded protein C-terminus
- protein heterodimerization
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- obesity
- weight gain
- insomnia
- hypoplasia
- Prader-Willi-like syndrome
- hyperphagia
- male pattern hair loss
role in cell
- activation
- quantity
- abnormal morphology
- development
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SIM1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ureteric bud development
- cell differentiation
- nervous system development
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- DNA binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- protein heterodimerization activity
- RNA polymerase II regulatory region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity