RAI1

RAI1 is a transcription factor associated with Smith–Magenis syndrome when individuals have deletions of the gene and Potocki–Lupski syndrome when individuals have a duplication. It is known as retinoic acid induced 1.

RAI1
Identifiers
Aliases	RAI1, SMCR, SMS, retinoic acid induced 1
External IDs	OMIM: 607642 MGI: 103291 HomoloGene: 7508 GeneCards: RAI1
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17p11.2 Start 17,681,458 bp[1] End 17,811,453 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 B1.3-B2 Start 60,105,013 bp[2] End 60,199,197 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in retinal pigment epithelium nipple palpebral conjunctiva urethra pylorus tibia Brodmann area 23 cardia human penis parietal lobe Top expressed in habenula olfactory tubercle ventromedial nucleus subiculum dorsomedial hypothalamic nucleus lateral hypothalamus mammillary body dorsal tegmental nucleus ventral tegmental area nucleus accumbens More reference expression data BioGPS 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 Species Human Mouse Entrez 10743 19377 Ensembl ENSG00000108557 ENSMUSG00000062115 UniProt Q7Z5J4 Q61818 RefSeq (mRNA) NM_030665 NM_017574 NM_152256 NM_001037764 NM_009021 RefSeq (protein) NP_109590 NP_001032853 NP_033047 Location (UCSC) Chr 17: 17.68 – 17.81 Mb Chr 11: 60.11 – 60.2 Mb PubMed search [3] [4]
Wikidata
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