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

Gene ID: 473, updated on 7-Oct-2018

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; Vega:OTTHUMG00000001765
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

Genomic context

See RERE in Genome Data Viewer
Location:
1p36.23
Exon count:
29
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (8352404..8826226, complement)
105 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 ribosomal protein L7 pseudogene 7 Neighboring gene ribosomal protein L27 pseudogene Neighboring gene ribosomal protein L23a pseudogene 19 Neighboring gene microRNA 6728 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
MedGen: C4310772 OMIM: 616975 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
A genome-wide association study of optic disc parameters.
NHGRI GWA Catalog
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
NHGRI GWA Catalog
Genome-wide association study identifies five new schizophrenia loci.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
NHGRI GWA Catalog
Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.
NHGRI GWA Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
NHGRI GWA Catalog
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
NHGRI GWA Catalog

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
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
poly-glutamine tract binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
transcription coactivator activity IEA
Inferred from Electronic Annotation
more info
 
transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
NLS-bearing protein import into nucleus TAS
Traceable Author Statement
more info
PubMed 
branching morphogenesis of a nerve IEA
Inferred from Electronic Annotation
more info
 
cerebellar Purkinje cell layer maturation IEA
Inferred from Electronic Annotation
more info
 
cerebellar granule cell precursor proliferation IEA
Inferred from Electronic Annotation
more info
 
chromatin remodeling IEA
Inferred from Electronic Annotation
more info
 
dendrite morphogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
positive regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
radial glia guided migration of Purkinje cell IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
histone deacetylase complex IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
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)

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_001042681.1NP_001036146.1  arginine-glutamic acid dipeptide repeats protein isoform a

    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, OTTHUMP00000221011, ENST00000400908.6, OTTHUMT00000366765
    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_001042682.1NP_001036147.1  arginine-glutamic acid dipeptide repeats protein isoform b

    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, AL356072, BC062342, CD674939, CD679363
    Consensus CDS
    CCDS41243.1
    UniProtKB/Swiss-Prot
    Q9P2R6
    Related
    ENSP00000422246.1, OTTHUMP00000221015, ENST00000476556.5, OTTHUMT00000004918
    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_012102.3NP_036234.3  arginine-glutamic acid dipeptide repeats protein isoform a

    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, OTTHUMP00000001701, ENST00000337907.7, OTTHUMT00000004916
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    8352404..8826226 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001358.1XP_016856847.1  arginine-glutamic acid dipeptide repeats protein isoform X1

    UniProtKB/Swiss-Prot
    Q9P2R6
    UniProtKB/TrEMBL
    A0A024R4E9
    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. XM_011541510.2XP_011539812.1  arginine-glutamic acid dipeptide repeats protein isoform X2

    Conserved Domains (8) summary
    smart00717
    Location:354399
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    cd11661
    Location:353398
    SANT_MTA3_like; Myb-Like Dna-Binding Domain of MTA3 and related proteins
    smart00401
    Location:461510
    ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
    cd00202
    Location:464518
    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:102265
    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:244294
    ELM2; ELM2 domain
    pfam03154
    Location:5261523
    Atrophin-1; Atrophin-1 family
    pfam04629
    Location:585751
    ICA69; Islet cell autoantigen ICA69, C-terminal domain
  3. XM_017001359.1XP_016856848.1  arginine-glutamic acid dipeptide repeats protein isoform X1

    UniProtKB/Swiss-Prot
    Q9P2R6
    UniProtKB/TrEMBL
    A0A024R4E9
    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
  4. XM_005263464.2XP_005263521.1  arginine-glutamic acid dipeptide repeats protein isoform X1

    UniProtKB/Swiss-Prot
    Q9P2R6
    UniProtKB/TrEMBL
    A0A024R4E9
    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
  5. XM_005263466.1XP_005263523.1  arginine-glutamic acid dipeptide repeats protein isoform X3

    UniProtKB/TrEMBL
    B1AKN3
    Related
    ENSP00000366684.1, OTTHUMP00000001702, ENST00000377464.5, OTTHUMT00000004917
    Conserved Domains (7) summary
    smart00717
    Location:128173
    SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
    cd11661
    Location:127172
    SANT_MTA3_like; Myb-Like Dna-Binding Domain of MTA3 and related proteins
    smart00401
    Location:235284
    ZnF_GATA; zinc finger binding to DNA consensus sequence [AT]GATA[AG]
    cd00202
    Location:238292
    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
    TIGR04420
    Location:344432
    Sec_Non_Glob; Sec region non-globular protein
    pfam01448
    Location:1868
    ELM2; ELM2 domain
    pfam03154
    Location:3001297
    Atrophin-1; Atrophin-1 family
  6. XM_011541511.2XP_011539813.1  arginine-glutamic acid dipeptide repeats protein isoform X4

    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
    pfam04629
    Location:627793
    ICA69; Islet cell autoantigen ICA69, C-terminal domain
    pfam05466
    Location:620805
    BASP1; Brain acid soluble protein 1 (BASP1 protein)
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