RAI1
Function
Transcriptional regulator of the circadian clock components: CLOCK, BMAL1, 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.
Involvement in disease
Smith-Magenis syndrome
SMS
Characterized by intellectual disability associated with development and growth delays. Affected persons have characteristic behavioral abnormalities, including self-injurious behaviors and sleep disturbance, and distinct craniofacial and skeletal anomalies.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed in all tissues examined with higher expression in the heart and brain. No expression was seen in the corpus callosum of the brain.
Cellular localization
- Cytoplasm
- Nucleus
- In neurons, localized to neurites.
Alternative names
KIAA1820, RAI1, Retinoic acid-induced protein 1