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    RERE arginine-glutamic acid dipeptide repeats [ Homo sapiens (human) ]

    Gene ID: 473, updated on 22-Jun-2021

    Summary

    Official Symbol
    REREprovided by HGNC
    Official Full Name
    arginine-glutamic acid dipeptide repeatsprovided by HGNC
    Primary source
    HGNC:HGNC:9965
    See related
    Ensembl:ENSG00000142599 MIM:605226
    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
    ARG; ARP; DNB1; ATN1L; NEDBEH
    Summary
    This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in endometrium (RPKM 24.6), prostate (RPKM 18.3) and 25 other tissues See more
    Orthologs
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    Genomic context

    See RERE in Genome Data Viewer
    Location:
    1p36.23
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (8352404..8817640, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (8412464..8877699, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 991, pseudogene Neighboring gene solute carrier family 45 member 1 Neighboring gene RERE antisense RNA 1 Neighboring gene small nucleolar RNA, C/D box 128 Neighboring gene ribosomal protein L7 pseudogene 11 Neighboring gene Sharpr-MPRA regulatory region 7894 Neighboring gene ribosomal protein L7 pseudogene 7 Neighboring gene ribosomal protein L27 pseudogene Neighboring gene ribosomal protein L23a pseudogene 19 Neighboring gene Sharpr-MPRA regulatory region 9811 Neighboring gene enolase 1

    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
    A genome-wide association study of optic disc parameters.
    GeneReviews: Not available
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    GeneReviews: Not available
    Genome-wide association study identifies five new schizophrenia loci.
    GeneReviews: Not available
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    GeneReviews: Not available
    Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.
    GeneReviews: Not available
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    GeneReviews: Not available
    Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
    GeneReviews: Not available
    Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
    MedGen: C4310772 OMIM: 616975 GeneReviews: RERE-Related Disorders
    Compare labs
    Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ38775, KIAA0458

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables transcription coactivator activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables transcription corepressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in branching morphogenesis of a nerve IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebellar Purkinje cell layer maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebellar granule cell precursor proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dendrite morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in radial glia guided migration of Purkinje cell IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of histone deacetylase complex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    arginine-glutamic acid dipeptide repeats protein
    Names
    arginine-glutamic acid dipeptide (RE) repeats
    atrophin 2
    atrophin-1 like protein
    atrophin-1 related protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_047035.1 RefSeqGene

      Range
      5052..470288
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001042681.2NP_001036146.1  arginine-glutamic acid dipeptide repeats protein isoform a

      See identical proteins and their annotated locations for NP_001036146.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AL356072, BC062342, CD679363, DA868444
      Consensus CDS
      CCDS95.1
      UniProtKB/Swiss-Prot
      Q9P2R6
      UniProtKB/TrEMBL
      A0A024R4E9
      Related
      ENSP00000383700.2, ENST00000400908.7
      Conserved Domains (8) summary
      smart00717
      Location:396441
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      cd11661
      Location:395440
      SANT_MTA3_like; Myb-Like Dna-Binding Domain of MTA3 and related proteins
      smart00401
      Location:503552
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      cd00202
      Location:506560
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C
      cd04709
      Location:102307
      BAH_MTA; BAH, or Bromo Adjacent Homology domain, as present in MTA1 and similar proteins. The Metastasis-associated protein MTA1 is part of the NURD (nucleosome remodeling and deacetylating) complex and plays a role in cellular transformation and metastasis. BAH ...
      pfam01448
      Location:286336
      ELM2; ELM2 domain
      pfam03154
      Location:5681565
      Atrophin-1; Atrophin-1 family
      pfam04629
      Location:627793
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    2. NM_001042682.2NP_001036147.1  arginine-glutamic acid dipeptide repeats protein isoform b

      See identical proteins and their annotated locations for NP_001036147.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (b) has a shorter N-terminus when compared to isoform a.
      Source sequence(s)
      AF016005, AL096855, AL356072, BC062342, CD674939, CD679363
      Consensus CDS
      CCDS41243.1
      UniProtKB/Swiss-Prot
      Q9P2R6
      Related
      ENSP00000422246.1, ENST00000476556.5
      Conserved Domains (2) summary
      TIGR04420
      Location:58146
      Sec_Non_Glob; Sec region non-globular protein
      pfam03154
      Location:141011
      Atrophin-1; Atrophin-1 family
    3. NM_012102.4NP_036234.3  arginine-glutamic acid dipeptide repeats protein isoform a

      See identical proteins and their annotated locations for NP_036234.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AB036737, AL356072, AL357552, BC062342, CD679363, DA868444
      Consensus CDS
      CCDS95.1
      UniProtKB/Swiss-Prot
      Q9P2R6
      UniProtKB/TrEMBL
      A0A024R4E9
      Related
      ENSP00000338629.3, ENST00000337907.7
      Conserved Domains (8) summary
      smart00717
      Location:396441
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      cd11661
      Location:395440
      SANT_MTA3_like; Myb-Like Dna-Binding Domain of MTA3 and related proteins
      smart00401
      Location:503552
      ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
      cd00202
      Location:506560
      ZnF_GATA; Zinc finger DNA binding domain; binds specifically to DNA consensus sequence [AT]GATA[AG] promoter elements; a subset of family members may also bind protein; zinc-finger consensus topology is C-X(2)-C-X(17)-C-X(2)-C
      cd04709
      Location:102307
      BAH_MTA; BAH, or Bromo Adjacent Homology domain, as present in MTA1 and similar proteins. The Metastasis-associated protein MTA1 is part of the NURD (nucleosome remodeling and deacetylating) complex and plays a role in cellular transformation and metastasis. BAH ...
      pfam01448
      Location:286336
      ELM2; ELM2 domain
      pfam03154
      Location:5681565
      Atrophin-1; Atrophin-1 family
      pfam04629
      Location:627793
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      8352404..8817640 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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