RAI1

RAI1
Identifiers
Aliases	RAI1, SMCR, SMS, retinoic acid induced 1
External IDs	OMIM: 607642; MGI: 103291; GeneCards: RAI1
Gene location (Human)
Chr.	Chromosome 17 (human)
End	17,811,453 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	60,199,197 bp
RNA expression pattern
	Top expressed in
	retinal pigment epithelium; ; nipple; ; palpebral conjunctiva; ; urethra; ; pylorus; ; tibia; ; Brodmann area 23; ; cardia; ; human penis; ; parietal lobe;
	Top expressed in
	lateral septal nucleus; ; habenula; ; anterior amygdaloid area; ; olfactory tubercle; ; ventromedial nucleus; ; subiculum; ; dorsomedial hypothalamic nucleus; ; Rostral migratory stream; ; lateral hypothalamus; ; mammillary body;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; metal ion binding; DNA-binding transcription factor activity;
Cellular component	cytoplasm; mitochondrion; nucleoplasm; nucleus;
Biological process	positive regulation of transcription, DNA-templated; skeletal system development; negative regulation of multicellular organism growth; regulation of transcription by RNA polymerase II; circadian regulation of gene expression; rhythmic process; positive regulation of transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	10743
	19377
	ENSG00000108557
	ENSMUSG00000062115
	Q7Z5J4
	Q61818
	NM_030665; NM_017574; NM_152256
	NM_001037764; NM_009021
	NP_109590
	NP_001032853; NP_033047
	Wikidata
View/Edit Human	View/Edit Mouse

Retinoic acid-induced protein 1 is a transcription factor that in humans is encoded by the RAI1 gene. Mutations or copy number alterations affecting this gene are associated with neurodevelopmental disorders. Deletions of RAI1 are a primary cause of Smith–Magenis syndrome,^[5]^[6] whereas duplications of the gene are associated with Potocki–Lupski syndrome.^[7]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000108557 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000062115 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Hamiel U, Kurolap A, Gadot CC, Mory A, Shira AB, Feldman HB, et al. (2025). "Deletion of RAI1 noncoding exons 1-2 causes Smith-Magenis syndrome". Journal of Genetics. 104 (9) 9. doi:10.1007/s12041-025-01497-x. PMID 40386916.
↑ Girirajan S, Elsas LJ, Devriendt K, Elsea SH (November 2005). "RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions". Journal of Medical Genetics. 42 (11): 820–828. doi:10.1136/jmg.2005.031211. PMC 1735950. PMID 15788730.
↑ Mullegama SV, Alaimo JT, Fountain MD, Burns B, Balog AH, Chen L, et al. (September 2017). "RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome". Journal of Pediatric Genetics. 6 (3): 155–164. doi:10.1055/s-0037-1599147. PMC 5548529. PMID 28794907.