Entrez Summary: This gene represents a homolog of the Drosophila single-minded (sim) gene, which encodes a transcription factor that is a master regulator of neurogenesis. The encoded protein is ubiquitinated by RING-IBR-RING-type E3 ubiquitin ligases, including the parkin RBR E3 ubiquitin protein ligase. This gene maps within the so-called Down syndrome chromosomal region, and is thus thought to contribute to some specific Down syndrome phenotypes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014].
UniProt Summary: Transcription factor that may be a master gene of CNS development in cooperation with Arnt. It may have pleiotropic effects in the tissues expressed during development.
Pfam DomainsGO Terms
Pfam Domains
PAS
PAS 3
SIM C
GO Terms
embryonic pattern specification
lung development
respiratory tube development
respiratory system development
nuclear body
pattern specification process
protein heterodimerization activity
DNA-binding transcription factor activity
tube development
negative regulation of transcription by RNA polymerase II
embryo development
negative regulation of transcription, DNA-templated
negative regulation of nucleic acid-templated transcription
negative regulation of RNA biosynthetic process
negative regulation of RNA metabolic process
negative regulation of cellular macromolecule biosynthetic process
negative regulation of nucleobase-containing compound metabolic process
DNA binding
negative regulation of macromolecule biosynthetic process
negative regulation of cellular biosynthetic process