SIM1
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
SIM bHLH transcription factor 1 | MIM:603128 | Ensembl:ENSG00000112246 | HGNC:HGNC:10882 | PA35782 | 6q16.3 |
GO terms in SIM1
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | IBA | GO:0005634 | nucleus |
BP | IEA | GO:0001657 | ureteric bud development |
BP | IEA | GO:0006351 | transcription, DNA-templated |
BP | IBA | GO:0006357 | regulation of transcription by RNA polymerase II |
BP | IEA | GO:0030154 | cell differentiation |
MF | IBA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
MF | IEA | GO:0003677 | DNA binding |
MF | TAS | GO:0003700 | DNA-binding transcription factor activity |
MF | ISS | GO:0046982 | protein heterodimerization activity |
Gene expression in normal tissue: SIM1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SIM1
Database | Pathway ID | Pathway Des. |
---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SIM1