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

Gene ID: 10743, updated on 13-Mar-2020

Summary

Official Symbol
RAI1provided by HGNC
Official Full Name
retinoic acid induced 1provided by HGNC
Primary source
HGNC:HGNC:9834
See related
Ensembl:ENSG00000108557 MIM:607642
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]
Expression
Ubiquitous expression in spleen (RPKM 5.1), endometrium (RPKM 4.9) and 25 other tissues See more
Orthologs

Genomic context

See RAI1 in Genome Data Viewer
Location:
17p11.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (17681376..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 Neighboring gene Sharpr-MPRA regulatory region 10129 Neighboring gene RAI1 antisense RNA 1 Neighboring gene Smith-Magenis syndrome chromosome region, candidate 5 Neighboring gene microRNA 6777 Neighboring gene sterol regulatory element binding transcription factor 1 Neighboring gene microRNA 33b

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1820, MGC12824, DKFZp434A139

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enhancer binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription regulatory region DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
circadian regulation of gene expression IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
skeletal system development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
retinoic acid-induced protein 1
Names
Smith-Magenis syndrome chromosome region

NCBI Reference Sequences (RefSeq)

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
    4986..134981
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_030665.4NP_109590.3  retinoic acid-induced protein 1

    See identical proteins and their annotated locations for NP_109590.3

    Status: REVIEWED

    Source sequence(s)
    AB058723, AC078903, AL834468, AY172136
    Consensus CDS
    CCDS11188.1
    UniProtKB/Swiss-Prot
    Q7Z5J4
    Related
    ENSP00000323074.4, ENST00000353383.6
    Conserved Domains (1) summary
    cd15700
    Location:16871902
    ePHD_RAI1; Extended PHD finger (ePHD) found in retinoic acid-induced protein 1 (RAI1)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    17681376..17811453
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024025.1XP_016879514.1  retinoic acid-induced protein 1 isoform X1

  2. XM_017024026.1XP_016879515.1  retinoic acid-induced protein 1 isoform X1

  3. XM_017024027.1XP_016879516.1  retinoic acid-induced protein 1 isoform X1

  4. XM_017024028.2XP_016879517.1  retinoic acid-induced protein 1 isoform X1

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