Property Summary

NCBI Gene PubMed Count 39
PubMed Score 69.05
PubTator Score 83.00

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
osteosarcoma 1.638 2.5e-03
primary pancreatic ductal adenocarcinoma 1.176 4.8e-03
interstitial cystitis -1.100 1.1e-04
ovarian cancer 1.200 2.2e-04
pancreatic cancer 1.200 7.6e-03

Gene RIF (24)

PMID Text
27082237 Mutations in RAI1, OTOF, and SLC26A4 may have roles in nonsyndromic hearing loss in Altaian families in Siberia
26544804 RAI1 Gene Duplication is associated with Potocki-Lupski syndrome.
25869926 South American cohort did not confirm the effect of the four candidate loci as modifier of onset age: mithocondrial A10398G polymorphism and CAGn at RAI1, CACNA1A, ATXN3, and ATXN7 genes
25853262 Results show that when MBD5 and RAI1 are haploinsufficient, they perturb several common pathways that are linked to neuronal and behavioral development.
24751306 RAI1 gene polyglutamine repeat has a different distribution in our population. The 14-repeat allele is associated with perinatal depression and more frequent experience of physical and psychological symptoms during menstrual period.
24519454 Human RAI1 protein was found to be a highly expressed neuronal protein whose distribution matches well with its role in cognitive and motor skills.
24205348 evolutionary conservation of chromatin binding of SPBP and RAI1
23345394 The Shc family protein adaptor, Rai, acts as a negative regulator of Th17 and Th1 cell development.
23028815 A reduction of total RAI1 transcription factor activity is at the heart of the Smith-Magenis Syndrome clinical presentation.
22578325 RAI1 is a positive transcriptional regulator of CLOCK, pinpointing a novel and important role for this gene in the circadian oscillator
21897445 Mutation screening of the coding region of the RAI1 gene in patients with with features suggestive of Smith-Magenis syndrome identified two patients with novel heterozygous nonsynonymous alterations of unknown significance.
21857958 Data suggest that RAI1 expression emerged as a genetic target for development of therapeutic interventions for SMS.
21739587 Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations
21545756 Functional studies have shown that RAI1 gene dosage is crucial for normal regulation of circadian rhythm, lipid metabolism and neurotransmitter function.
20932317 data on 2 cases of Smith-Magenis syndrome with mutation of RAI1; sequencing of RAI1 revealed mutation of the same heptameric C-tract (CCCCCCC) in exon 3 in both cases (c.3103delC one case and and c.3103insC in the other), resulting in frameshift mutations
20738874 Results indicate that transcription factor activity and subcellular localization signals reside in two separate domains of the protein and both are essential for the correct functionality of RAI1.
20663924 haploinsufficiency affects feeding, satiety and fat deposition patterns; RAI1 directly regulates the expression of BDNF
20634891 Observational study of gene-disease association. (HuGE Navigator)
19236431 gene expression profile of genes analyzed in RAI1 knockdown cells
17468296 RAI1 seems to be responsible for the main features found with heterozygous 17p11.2 deletions inn patients with Smith-Magenis syndrome.
15885892 Observational study of gene-disease association. (HuGE Navigator)
15788730 Haploinsufficiency of the RAI1 gene is associated with most features of Smith-Magenis syndrome
15565467 Two novel mutations in RAI1 were found in nondeletion patients with Smith-Magenis syndrome. The RAI1 C-terminus was found to have a plant homeo domain (PHD); this domain is conserved in the trithorax group of chromatin-based transcription regulators.
12652298 RAI1 may play a role in regulating behavior, as dominant frameshift mutations in RAI1 have been found in individuals with Smith-Magenis syndrome

AA Sequence

MQSFRERCGFHGKQQNYQQTSQETSRLENYRQPSQAGLSCDRQRLLAKDYYNPQPYPSYEGGAGTPSGTA      1 - 70
AAVAADKYHRGSKALPTQQGLQGRPAFPGYGVQDSSPYPGRYAGEESLQAWGAPQPPPPQPQPLPAGVAK     71 - 140
YDENLMKKTAVPPSRQYAEQGAQVPFRTHSLHVQQPPPPQQPLAYPKLQRQKLQNDIASPLPFPQGTHFP    141 - 210
QHSQSFPTSSTYSSSVQGGGQGAHSYKSCTAPTAQPHDRPLTASSSLAPGQRVQNLHAYQSGRLSYDQQQ    211 - 280
QQQQQQQQQQQALQSRHHAQETLHYQNLAKYQHYGQQGQGYCQPDAAVRTPEQYYQTFSPSSSHSPARSV    281 - 350
GRSPSYSSTPSPLMPNLENFPYSQQPLSTGAFPAGITDHSHFMPLLNPSPTDATSSVDTQAGNCKPLQKD    351 - 420
KLPENLLSDLSLQSLTALTSQVENISNTVQQLLLSKAAVPQKKGVKNLVSRTPEQHKSQHCSPEGSGYSA    421 - 490
EPAGTPLSEPPSSTPQSTHAEPQEADYLSGSEDPLERSFLYCNQARGSPARVNSNSKAKPESVSTCSVTS    491 - 560
PDDMSTKSDDSFQSLHGSLPLDSFSKFVAGERDCPRLLLSALAQEDLASEILGLQEAIGEKADKAWAEAP    561 - 630
SLVKDSSKPPFSLENHSACLDSVAKSAWPRPGEPEALPDSLQLDKGGNAKDFSPGLFEDPSVAFATPDPK    631 - 700
KTTGPLSFGTKPTLGVPAPDPTTAAFDCFPDTTAASSADSANPFAWPEENLGDACPRWGLHPGELTKGLE    701 - 770
QGGKASDGISKGDTHEASACLGFQEEDPPGEKVASLPGDFKQEEVGGVKEEAGGLLQCPEVAKADRWLED    771 - 840
SRHCCSTADFGDLPLLPPTSRKEDLEAEEEYSSLCELLGSPEQRPGMQDPLSPKAPLICTKEEVEEVLDS    841 - 910
KAGWGSPCHLSGESVILLGPTVGTESKVQSWFESSLSHMKPGEEGPDGERAPGDSTTSDASLAQKPNKPA    911 - 980
VPEAPIAKKEPVPRGKSLRSRRVHRGLPEAEDSPCRAPVLPKDLLLPESCTGPPQGQMEGAGAPGRGASE    981 - 1050
GLPRMCTRSLTALSEPRTPGPPGLTTTPAPPDKLGGKQRAAFKSGKRVGKPSPKAASSPSNPAALPVASD   1051 - 1120
SSPMGSKTKETDSPSTPGKDQRSMILRSRTKTQEIFHSKRRRPSEGRLPNCRATKKLLDNSHLPATFKVS   1121 - 1190
SSPQKEGRVSQRARVPKPGAGSKLSDRPLHALKRKSAFMAPVPTKKRNLVLRSRSSSSSNASGNGGDGKE   1191 - 1260
ERPEGSPTLFKRMSSPKKAKPTKGNGEPATKLPPPETPDACLKLASRAAFQGAMKTKVLPPRKGRGLKLE   1261 - 1330
AIVQKITSPSLKKFACKAPGASPGNPLSPSLSDKDRGLKGAGGSPVGVEEGLVNVGTGQKLPTSGADPLC   1331 - 1400
RNPTNRSLKGKLMNSKKLSSTDCFKTEAFTSPEALQPGGTALAPKKRSRKGRAGAHGLSKGPLEKRPYLG   1401 - 1470
PALLLTPRDRASGTQGASEDNSGGGGKKPKMEELGLASQPPEGRPCQPQTRAQKQPGHTNYSSYSKRKRL   1471 - 1540
TRGRAKNTTSSPCKGRAKRRRQQQVLPLDPAEPEIRLKYISSCKRLRSDSRTPAFSPFVRVEKRDAFTTI   1541 - 1610
CTVVNSPGDAPKPHRKPSSSASSSSSSSSFSLDAAGASLATLPGGSILQPRPSLPLSSTMHLGPVVSKAL   1611 - 1680
STSCLVCCLCQNPANFKDLGDLCGPYYPEHCLPKKKPKLKEKVRPEGTCEEASLPLERTLKGPECAAAAT   1681 - 1750
AGKPPRPDGPADPAKQGPLRTSARGLSRRLQSCYCCDGREDGGEEAAPADKGRKHECSKEAPAEPGGEAQ   1751 - 1820
EHWVHEACAVWTGGVYLVAGKLFGLQEAMKVAVDMMCSSCQEAGATIGCCHKGCLHTYHYPCASDAGCIF   1821 - 1890
IEENFSLKCPKHKRLP                                                         1891 - 1906
//

Text Mined References (46)

PMID Year Title
27082237 2016 Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).
26544804 2015 Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
25869926 2015 ATXN3, ATXN7, CACNA1A, and RAI1 Genes and Mitochondrial Polymorphism A10398G Did Not Modify Age at Onset in Spinocerebellar Ataxia Type 2 Patients from South America.
25853262 2015 Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.
25416956 2014 A proteome-scale map of the human interactome network.
25114211 2014 Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
24751306 2014 Association of premenstrual/menstrual symptoms with perinatal depression and a polymorphic repeat in the polyglutamine tract of the retinoic acid induced 1 gene.
24519454 2015 Expression in the human brain of retinoic acid induced 1, a protein associated with neurobehavioural disorders.
24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
24205348 2013 A phylogenetic study of SPBP and RAI1: evolutionary conservation of chromatin binding modules.
23345394 2013 The Shc family protein adaptor, Rai, acts as a negative regulator of Th17 and Th1 cell development.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23028815 2012 RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.
22578325 2012 Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity.
21897445 2012 Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.
21857958 2011 Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.
21739587 2011 Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations.
21738487 2011 Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
21545756 2011 Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.
20932317 2010 Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature.
20738874 2010 Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome.
20663924 2010 Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19236431 2009 A functional network module for Smith-Magenis syndrome.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17468296 2007 Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15885892 2005 Polymorphisms in RAI and in genes of nucleotide and base excision repair are not associated with risk of testicular cancer.
15788730 2005 RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.
15565467 2004 Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12837267 2003 Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia.
12652298 2003 Mutations in RAI1 associated with Smith-Magenis syndrome.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11997338 2002 Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.
11404004 2001 RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients.
11347906 2001 Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
10915763 2000 CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2).
10036180 1999 Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis syndrome candidate region: identification of 53 transcriptional units and new candidate genes.