protein
Retinoic acid-induced protein 1
Gene
RAI1
Organism
Homo sapiens(9606)
Length
1906 aa
Mass
203,352 Da
Retinoic acid-induced protein 1 (RAI1) is a transcriptional regulator that controls circadian clock components including CLOCK, BMAL1, PER1/3, CRY1/2, NR1D1/2, and RORA/C (UniProt: Q7Z5J4). The protein functions through chromatin remodeling interactions and may be important for embryonic development and neuronal differentiation.
RAI1 is associated with Smith-Magenis syndrome (SMS), a developmental disorder characterized by intellectual disability, growth delays, behavioral abnormalities including self-injurious behaviors, sleep disturbance, and distinctive craniofacial and skeletal features. The protein's role in circadian regulation and neuronal development suggests involvement in multiple aspects of neurodevelopmental function.
RAI1 is classified as a syndromic autism-risk gene in SFARI (SFARI Cat 1), reflecting its established association with autism spectrum disorder in the context of Smith-Magenis syndrome and other developmental presentations.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
High confidence — strong genetic evidence from multiple studies
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
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
Disease associations
Smith-Magenis syndromeSMS
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.
Sources
Last updated 5/6/2026, 5:25:24 AM