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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RAI1 Gene

protein-coding   GIFtS: 55
GCID: GC17P017525

Retinoic Acid Induced 1

(Previous name: Smith-Magenis syndrome chromosome region)
(Previous symbol: SMCR)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Retinoic Acid Induced 11 2
SMCR1 2 5
Smith-Magenis Syndrome Chromosome Region1 2
SMS2 5
Retinoic Acid-Induced Protein 12
KIAA18203

External Ids:    HGNC: 98341   Entrez Gene: 107432   Ensembl: ENSG000001085577   OMIM: 6076425   UniProtKB: Q7Z5J43   

Export aliases for RAI1 gene to outside databases

Previous GC identifers: GC17P017899 GC17P018957 GC17P017527 GC17P017785 GC17P017379


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RAI1 Gene:
This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse
counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes
a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is
induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to
medication in schizophrenic patients. (provided by RefSeq, Jul 2008)

GeneCards Summary for RAI1 Gene: 
RAI1 (retinoic acid induced 1) is a protein-coding gene. Diseases associated with RAI1 include smith magenis syndrome, and 17p11.2 microduplication syndrome. GO annotations related to this gene include zinc ion binding. An important paralog of this gene is TCF20.

UniProtKB/Swiss-Prot: RAI1_HUMAN, Q7Z5J4
Function: May function as a transcriptional regulator. 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 (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010718.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RAI1 gene promoter:
         Pax-5   MAZR   SREBP-1a   SREBP-1c   NF-kappaB1   NF-kappaB   SREBP-1b   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for RAI1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAI1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

RAI1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAI1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P017525:  view genomic region     (about GC identifiers)

Start:
17,584,787 bp from pter      End:
17,714,767 bp from pter
Size:
129,981 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RAI1_HUMAN, Q7Z5J4 (See protein sequence)
Recommended Name: Retinoic acid-induced protein 1  
Size: 1906 amino acids; 203352 Da
Subcellular location: Cytoplasm. Nucleus. Note=In neurons, localized to neurites (By similarity)
Sequence caution: Sequence=BAB47449.1; Type=Erroneous initiation;
Secondary accessions: Q8N3B4 Q8ND08 Q8WU64 Q96JK5 Q9H1C1 Q9H1C2 Q9UF69
Alternative splicing: 4 isoforms:  Q7Z5J4-1   Q7Z5J4-2   Q7Z5J4-3   Q7Z5J4-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RAI1: NX_Q7Z5J4

Explore proteomics data for RAI1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q7Z5J4

  • RAI1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RAI1 Protein Expression
    REFSEQ proteins: NP_109590.3  
    ENSEMBL proteins: 
     ENSP00000323074   ENSP00000463607   ENSP00000379120   ENSP00000463984   ENSP00000261641  

    Human Recombinant Protein Products for RAI1: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RAI1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

    RAI1 for ontologies           About GeneDecksing



    RAI1 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for RAI1 
    Cloud-Clone Corp. CLIAs for RAI1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR001965 Znf_PHD

    Graphical View of Domain Structure for InterPro Entry Q7Z5J4

    ProtoNet protein and cluster: Q7Z5J4

    UniProtKB/Swiss-Prot: RAI1_HUMAN, Q7Z5J4
    Similarity: Contains 1 PHD-type zinc finger


    RAI1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RAI1_HUMAN, Q7Z5J4
    Function: May function as a transcriptional regulator. 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 (By similarity)

         Genatlas biochemistry entry for RAI1:
    retinoic acid induced gene 1,homolog of murine gene,expressed in brain,involved in the control of early neural
    differentiation

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
         
    RAI1 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rai1):
     adipose tissue  behavior/neurological  craniofacial  growth/size  homeostasis/metabolism 
     limbs/digits/tail  mortality/aging  nervous system  respiratory system  skeleton 

    RAI1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rai1tm1Jrl for RAI1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RAI1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RAI1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RAI1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RAI1 

    miRNA
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    8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate RAI1 (see all 42):
    hsa-miR-411* hsa-miR-379* hsa-miR-1197 hsa-miR-3141 hsa-let-7a-2* hsa-miR-374a hsa-miR-3138 hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidRAI1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of RAI1

    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAI1

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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAI1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RAI1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/20 Interacting proteins for RAI1 (Q7Z5J42, 3 ENSP000003230744) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TESCQ96BS22, 3, ENSP000003763284MINT-66449 I2D: score=4 STRING: ENSP00000376328
    CASP2P425752, 3MINT-8250656 I2D: score=2 
    CDKN1AP389362, 3MINT-8252165 I2D: score=2 
    GADD45AP245222, 3MINT-8256015 I2D: score=2 
    GSK3BP498412, 3MINT-8257614 I2D: score=2 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter IEA--
    GO:0040015negative regulation of multicellular organism growth IEA--

    RAI1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RAI1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RAI1

    2 Novoseek inferred chemical compound relationships for RAI1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 67.8 14 16179224 (1), 15788730 (1), 17627554 (1), 15565467 (1) (see all 10)
    zinc 15.4 2 15565467 (1), 17041942 (1)

    Search CenterWatch for drugs/clinical trials and news about RAI1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RAI1 gene: 
    NM_030665.3  

    Unigene Clusters for RAI1:

    Retinoic acid induced 1
    Hs.655395  [show with all ESTs], Hs.727059  [show with all ESTs]
    Unigene Representative Sequences: NM_030665, AJ271790
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000353383(uc002grm.3 uc002grn.1) ENST00000489697 ENST00000471135
    ENST00000395774 ENST00000583166 ENST00000582514 ENST00000261641

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RAI1
    8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate RAI1 (see all 42):
    hsa-miR-411* hsa-miR-379* hsa-miR-1197 hsa-miR-3141 hsa-let-7a-2* hsa-miR-374a hsa-miR-3138 hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidRAI1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RAI1
    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAI1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for RAI1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RAI1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RAI1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RAI1

    Additional mRNA sequence: AJ271790.1 

    8 DOTS entries:

    DT.100751743  DT.91770572  DT.75167709  DT.95208360  DT.97806938  DT.100777285  DT.65287940  DT.120990300 

    24/109 AceView cDNA sequences (see all 109):

    CA449686 AI926671 AW769085 AW769036 BM664273 AI434191 AB058723 AL834468 
    CA395169 AJ230819 BI259831 AL834486 BF593068 BM675388 BU189816 BM713809 
    AI870703 BM127104 AA233934 AY172136 AI432478 NM_030665 AL530927 BI791916 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RAI1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCGCTTCTC
    RAI1 Expression
    About this image


    See RAI1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAI1

    SOURCE GeneReport for Unigene clusters: Hs.655395 Hs.727059

    UniProtKB/Swiss-Prot: RAI1_HUMAN, Q7Z5J4
    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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAI1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for RAI1 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rai11 , 5 retinoic acid induced 11, 5 82.95(n)1
    84.07(a)1
      11 (37.81 cM)5
    193771  NM_009021.21  NP_033047.21 
     601050135 
    chicken
    (Gallus gallus)
    Aves RAI11 retinoic acid induced 1 67.13(n)
    61(a)
      427664  XM_425237.3  XP_425237.3 
    lizard
    (Anolis carolinensis)
    Reptilia RAI16
    retinoic acid induced 1
    47(a)
    1 ↔ 1
    GL343500.1(60011-65863)
    zebrafish
    (Danio rerio)
    Actinopterygii AL772300.36
    si:dkey-94l16.46
    (see all 3)
    si:dkey-94l16.4
    (see all 3)
    25(a)
    25(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    3(59344341-59350380)
    12(543893-556854)


    ENSEMBL Gene Tree for RAI1 (if available)
    TreeFam Gene Tree for RAI1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RAI1 gene
    TCF202  

    RAI1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: RAI1_HUMAN, Q7Z5J4
    Polymorphism: The poly-Gln tract is polymorphic and the number of Gln varies from 12 to 14. The size of the
    poly-Gln region may influence the age at onset of spinocerebellar ataxia type 2 (SCA2)


    10/2399 SNPs in RAI1 are shown (see all 2399)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048946341,2
    Cpathogenic117700947(+) ACGACA/GGCAGC 2 Q R mis10--------
    rs1048946331,2
    Cpathogenic117701685(+) GTGCAA/GCAAGG 2 N S mis10--------
    rs1466249311,2
    --17582857(+) GAGTCC/GGAGGC 1 -- us2k10--------
    rs1930521331,2
    --17582920(+) AACCCC/TGTCTC 1 -- us2k10--------
    rs1401925881,2
    C--17583001(+) CAGGAA/GAATTG 1 -- us2k10--------
    rs1845937551,2
    --17583068(+) GCAGGA/GCAACA 1 -- us2k10--------
    rs355739541,2
    C--17583127(+) AATAAA/CCCAGA 1 -- us2k10--------
    rs747207081,2
    C,F--17583217(+) ACATTC/TACCCT 1 -- us2k12Minor allele frequency- T:0.11WA 120
    rs1435388601,2
    --17583229(+) GGAGAC/TGGGTA 1 -- us2k10--------
    rs1885910821,2
    --17583321(+) CTCTGC/TGCCTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RAI1 (17584787 - 17714767 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/22 variations for RAI1 (see all 22):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2659754CNV Deletion23128226
    nsv907768CNV Loss21882294
    dgv3074n71CNV Loss21882294
    dgv3073n71CNV Loss21882294
    nsv833385CNV Loss17160897
    nsv820244CNV Loss19587683
    nsv907748CNV Loss21882294
    nsv817753CNV Loss17921354
    nsv907755CNV Loss21882294
    dgv3072n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): RAI1
    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing RAI1:
    Intellectual Disability
    SeqTarget long-range PCR primers for resequencing RAI1
    DNA2.0 Custom Variant and Variant Library Synthesis for RAI1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607642   
    OMIM disorders: 182290  
    UniProtKB/Swiss-Prot: RAI1_HUMAN, Q7Z5J4
  • Smith-Magenis syndrome (SMS) [MIM:182290]: Characterized by congenital mental retardation 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 17 diseases for RAI1:    About MalaCards
    smith magenis syndrome    17p11.2 microduplication syndrome    moyamoya disease    short stature
    testicular cancer    spinocerebellar ataxia    cleft palate    intellectual disability
    neuronitis    medulloblastoma    ataxia    mental retardation
    huntington's disease    parkinson's disease    obesity    schizophrenia
    thyroiditis

    2 diseases from the University of Copenhagen DISEASES database for RAI1:
    Intellectual disability     Autistic disorder

    RAI1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    4 Novoseek inferred disease relationships for RAI1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    smith-magenis syndrome 97 12 15788730 (1), 15690371 (1), 18231123 (1), 15565467 (1) (see all 9)
    anomaly congenital multiple 79.3 1 17431895 (1)
    mental retardation 73.1 5 19752160 (1), 17431895 (1), 18285828 (1)
    short stature 44.8 3 16845274 (1)

    GeneTests: RAI1
    GeneReviews: RAI1
    Genetic Association Database (GAD): RAI1
    Human Genome Epidemiology (HuGE) Navigator: RAI1 (5 documents)

    Export disorders for RAI1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RAI1 gene, integrated from 9 sources (see all 55):
    (articles sorted by number of sources associating them with RAI1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Web-based genome-wide association study identifies tw o novel loci and a substantial genetic component for Parkinson's disease. (PubMed id 21738487)1, 4 Do C.B....Eriksson N. (2011)
    2. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    3. Polymorphisms in RAI and in genes of nucleotide and base excision repair are not associated with risk of testicular cancer. (PubMed id 15885892)1, 4 Laska M.J....Vogel U. (2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Mutations in RAI1 associated with Smith-Magenis syndrome. (PubMed id 12652298)1, 2 Slager R.E.... Elsea S.H. (2003)
    6. Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia. (PubMed id 12837267)1, 2 Toulouse A.... Rouleau G.A. (2003)
    7. 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. (PubMed id 11347906)1, 2 Nagase T.... Ohara O. (2001)
    8. RAI1 is a novel polyglutamine encoding gene that is deleted in Smith- Magenis syndrome patients. (PubMed id 11404004)1, 2 Seranski P.... Poustka A. (2001)
    9. CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2). (PubMed id 10915763)1, 2 Hayes S.... Rouleau G.A. (2000)
    10. Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis syndrome candidate region: identification of 53 transcriptional units and new candidate genes. (PubMed id 10036180)1, 3 Seranski P....Poustka A. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10743 HGNC: 9834 AceView: RAI1 Ensembl:ENSG00000108557 euGenes: HUgn10743
    ECgene: RAI1 H-InvDB: RAI1

    (According to HUGE)
    About This Section
    HUGE: KIAA1820

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RAI1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RAI1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RAI1 gene:
    Search GeneIP for patents involving RAI1

    GeneCards and IP:
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