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    RAI1 retinoic acid induced 1 [ Homo sapiens (human) ]

    Gene ID: 10743, updated on 30-Jun-2015
    Official Symbol
    RAI1provided by HGNC
    Official Full Name
    retinoic acid induced 1provided by HGNC
    Primary source
    HGNC:HGNC:9834
    See related
    Ensembl:ENSG00000108557; HPRD:07406; MIM:607642; Vega:OTTHUMG00000059314
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SMS; SMCR
    Summary
    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]
    Orthologs
    See RAI1 in Epigenomics, MapViewer
    Location:
    17p11.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (17681473..17811453)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (17584787..17714767)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene phosphatidylethanolamine N-methyltransferase Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 43 Neighboring gene Smith-Magenis syndrome chromosome region, candidate 2 (non-protein coding) Neighboring gene RAI1 antisense RNA 1 Neighboring gene Smith-Magenis syndrome chromosome region, candidate 5 (non-protein coding) Neighboring gene microRNA 6777 Neighboring gene sterol regulatory element binding transcription factor 1 Neighboring gene microRNA 33b

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Smith-Magenis syndrome
    MedGen: C0795864 OMIM: 182290 GeneReviews: Smith-Magenis Syndrome
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-04-19)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-19)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    NHGRI GWA Catalog
    Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
    NHGRI GWA Catalog
    Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
    NHGRI GWA Catalog
    • Circadian Clock, organism-specific biosystem (from REACTOME)
      Circadian Clock, organism-specific biosystemAt the center of the mammalian circadian clock is a negative transcription/translation-based feedback loop: The BMAL1:CLOCK/NPAS2 (ARNTL:CLOCK/NPAS2) heterodimer transactivates CRY and PER genes by b...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA1820, MGC12824, DKFZp434A139

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enhancer binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    circadian regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    retinoic acid-induced protein 1
    Names
    Smith-Magenis syndrome chromosome region

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007101.2 RefSeqGene

      Range
      5001..134981
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_030665.3NP_109590.3  retinoic acid-induced protein 1

      See identical proteins and their annotated locations for NP_109590.3

      Status: REVIEWED

      Source sequence(s)
      AB058723, AL133649, AL834468, AY172136
      Consensus CDS
      CCDS11188.1
      UniProtKB/Swiss-Prot
      Q7Z5J4
      Related
      ENSP00000323074, OTTHUMP00000065594, ENST00000353383, OTTHUMT00000131775
      Conserved Domains (1) summary
      pfam13771
      Location:18251903
      zf-HC5HC2H; PHD-like zinc-binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

      Range
      17681473..17811453
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      17593539..17723560
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)