Entrez Summary: This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. [provided by RefSeq, Jul 2008].
UniProt Summary: Transcriptional regulator of the circadian clock components: CLOCK, ARNTL/BMAL1, ARNTL2/BMAL2, PER1/3, CRY1/2, NR1D1/2 and RORA/C. Positively regulates the transcriptional activity of CLOCK a core component of the circadian clock. Regulates transcription through chromatin remodeling by interacting with other proteins in chromatin as well as proteins in the basic transcriptional machinery. May be important for embryonic and postnatal development. May be involved in neuronal differentiation. {ECO:0000269|PubMed:22578325}.
Pfam DomainsGO Terms
Pfam Domains
No Pfam Domain information is available for this gene.
GO Terms
negative regulation of multicellular organism growth
enhancer binding
circadian regulation of gene expression
regulation of multicellular organism growth
negative regulation of developmental growth
circadian rhythm
transcription regulatory region DNA binding
negative regulation of growth
rhythmic process
regulation of developmental growth
skeletal system development
regulation of growth
DNA-binding transcription factor activity
negative regulation of developmental process
negative regulation of multicellular organismal process
positive regulation of transcription by RNA polymerase II
mitochondrion
positive regulation of transcription, DNA-templated
positive regulation of nucleic acid-templated transcription
positive regulation of RNA biosynthetic process
positive regulation of RNA metabolic process
positive regulation of nucleobase-containing compound metabolic process
positive regulation of macromolecule biosynthetic process
positive regulation of cellular biosynthetic process
positive regulation of gene expression
positive regulation of biosynthetic process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)