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Aliases for RERE Gene

Aliases for RERE Gene

  • Arginine-Glutamic Acid Dipeptide (RE) Repeats 2 3
  • Atrophin-1-Related Protein 3 4
  • Atrophin-1-Like Protein 3 4
  • ATN1L 3 4
  • ARP 3 4
  • ARG 3 4
  • Arginine-Glutamic Acid Dipeptide Repeats Protein 3
  • Atrophin-1 Related Protein 3
  • Atrophin-1 Like Protein 3
  • Atrophin 2 3
  • KIAA0458 4
  • DNB1 3

External Ids for RERE Gene

Previous Symbols for RERE Gene

  • ATN1L

Summaries for RERE Gene

Entrez Gene Summary for RERE Gene

  • 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]

GeneCards Summary for RERE Gene

RERE (Arginine-Glutamic Acid Dipeptide (RE) Repeats) is a Protein Coding gene. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is MTA2.

UniProtKB/Swiss-Prot for RERE Gene

  • Plays a role as a transcriptional repressor during development. May play a role in the control of cell survival. Overexpression of RERE recruits BAX to the nucleus particularly to POD and triggers caspase-3 activation, leading to cell death.

Gene Wiki entry for RERE Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RERE Gene

Genomics for RERE Gene

Genomic Location for RERE Gene

Start:
8,352,397 bp from pter
End:
8,817,643 bp from pter
Size:
465,247 bases
Orientation:
Minus strand

Genomic View for RERE Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RERE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RERE Gene

Regulatory Elements for RERE Gene

Proteins for RERE Gene

  • Protein details for RERE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2R6-RERE_HUMAN
    Recommended name:
    Arginine-glutamic acid dipeptide repeats protein
    Protein Accession:
    Q9P2R6
    Secondary Accessions:
    • O43393
    • O75046
    • O75359
    • Q5VXL9
    • Q6P6B9
    • Q9Y2W4

    Protein attributes for RERE Gene

    Size:
    1566 amino acids
    Molecular mass:
    172424 Da
    Quaternary structure:
    • Interacts with HDAC1 (By similarity). Interacts with ATN1. Interaction with ATN1 is improved when the poly-Gln region of ATN1 is extended. Interacts with FAT1.
    SequenceCaution:
    • Sequence=AAC31120.1; Type=Frameshift; Positions=588, 596; Evidence={ECO:0000305}; Sequence=AAD27584.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RERE Gene

    Alternative splice isoforms for RERE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RERE Gene

Proteomics data for RERE Gene at MOPED

Post-translational modifications for RERE Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys378 and Lys1324

No data available for DME Specific Peptides for RERE Gene

Domains for RERE Gene

Gene Families for RERE Gene

HGNC:
  • GATAD :GATA zinc finger domain containing

UniProtKB/Swiss-Prot:

RERE_HUMAN
Domain:
  • The interaction with ATN1 is mediated by the coiled coil domain:
    • Q9P2R6
  • Contains 1 BAH domain.:
    • Q9P2R6
  • Contains 1 ELM2 domain.:
    • Q9P2R6
  • Contains 1 SANT domain.:
    • Q9P2R6
Similarity:
  • Contains 1 GATA-type zinc finger.:
    • Q9P2R6
genes like me logo Genes that share domains with RERE: view

Function for RERE Gene

Molecular function for RERE Gene

UniProtKB/Swiss-Prot Function: Plays a role as a transcriptional repressor during development. May play a role in the control of cell survival. Overexpression of RERE recruits BAX to the nucleus particularly to POD and triggers caspase-3 activation, leading to cell death.

Gene Ontology (GO) - Molecular Function for RERE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
GO:0003682 chromatin binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0005515 protein binding IPI 16713569
GO:0008267 poly-glutamine tract binding TAS 10814707
genes like me logo Genes that share ontologies with RERE: view
genes like me logo Genes that share phenotypes with RERE: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for RERE Gene

Localization for RERE Gene

Subcellular locations from UniProtKB/Swiss-Prot for RERE Gene

Nucleus. Note=Localized in nuclear bodies of variables size. Colocalized with PML and BAX in nuclear PODs.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RERE Gene COMPARTMENTS Subcellular localization image for RERE gene
Compartment Confidence
nucleus 5
mitochondrion 4
cytosol 2

Gene Ontology (GO) - Cellular Components for RERE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000118 histone deacetylase complex IEA --
GO:0005634 nucleus NAS 10814707
genes like me logo Genes that share ontologies with RERE: view

Pathways for RERE Gene

SuperPathways for RERE Gene

No Data Available

Gene Ontology (GO) - Biological Process for RERE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006338 chromatin remodeling IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006607 NLS-bearing protein import into nucleus TAS 10814707
GO:0007275 multicellular organismal development IEA --
genes like me logo Genes that share ontologies with RERE: view

No data available for Pathways by source for RERE Gene

Compounds for RERE Gene

(1) Novoseek inferred chemical compound relationships for RERE Gene

Compound -log(P) Hits PubMed IDs
glutamine 29.2 4
genes like me logo Genes that share compounds with RERE: view

Transcripts for RERE Gene

Unigene Clusters for RERE Gene

Arginine-glutamic acid dipeptide (RE) repeats:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RERE Gene

No ASD Table

Relevant External Links for RERE Gene

GeneLoc Exon Structure for
RERE
ECgene alternative splicing isoforms for
RERE

Expression for RERE Gene

mRNA expression in normal human tissues for RERE Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RERE Gene

SOURCE GeneReport for Unigene cluster for RERE Gene Hs.463041

mRNA Expression by UniProt/SwissProt for RERE Gene

Q9P2R6-RERE_HUMAN
Tissue specificity: Widely expressed. Expressed in tumor cell lines.
genes like me logo Genes that share expressions with RERE: view

Orthologs for RERE Gene

This gene was present in the common ancestor of animals.

Orthologs for RERE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RERE 36
  • 99.51 (n)
  • 99.74 (a)
RERE 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RERE 36
  • 90.13 (n)
  • 95.85 (a)
RERE 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RERE 36
  • 90.64 (n)
  • 96.48 (a)
RERE 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rere 36
  • 87.8 (n)
  • 94.51 (a)
Rere 16
Rere 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RERE 37
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RERE 37
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rere 36
  • 86.18 (n)
  • 92.61 (a)
chicken
(Gallus gallus)
Aves RERE 36
  • 80.02 (n)
  • 90.17 (a)
RERE 37
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RERE 37
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rere 36
  • 73.16 (n)
  • 84.75 (a)
zebrafish
(Danio rerio)
Actinopterygii rerea 36
  • 72.33 (n)
  • 79.37 (a)
rerea 37
  • 78 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Gug 37
  • 21 (a)
OneToMany
Gug 38
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-27 37
  • 23 (a)
OneToMany
egl-27 38
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 50 (a)
OneToMany
Species with no ortholog for RERE:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RERE Gene

ENSEMBL:
Gene Tree for RERE (if available)
TreeFam:
Gene Tree for RERE (if available)

Paralogs for RERE Gene

Paralogs for RERE Gene

Selected SIMAP similar genes for RERE Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for RERE Gene

genes like me logo Genes that share paralogs with RERE: view

Variants for RERE Gene

Sequence variations from dbSNP and Humsavar for RERE Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs3030 -- 8,411,429(+) TATCT(A/G)CCCTG intron-variant
rs8627 -- 8,352,875(-) TGAAA(A/G)CCGTC utr-variant-3-prime
rs12864 -- 8,361,179(-) CCACA(G/T)GGCTC reference, missense
rs13596 -- 8,361,143(-) CAGCC(A/G)CAGGC reference, synonymous-codon
rs159959 -- 8,454,736(-) CCTCC(A/G)CCTCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RERE Gene

Variant ID Type Subtype PubMed ID
nsv871164 CNV Loss 21882294
nsv516827 CNV Loss 19592680
nsv819494 CNV Gain 19587683
esv990980 CNV Insertion 20482838
esv273761 CNV Insertion 20981092
esv271602 CNV Insertion 20981092
esv2674889 CNV Deletion 23128226
nsv524946 CNV Loss 19592680
esv270262 CNV Insertion 20981092
esv268185 CNV Insertion 20981092
esv2658508 CNV Deletion 23128226
esv25533 CNV Loss 19812545
nsv159615 CNV Loss 16902084
nsv826919 CNV Gain 20364138
esv26500 CNV Gain+Loss 19812545
nsv827030 CNV Loss 20364138
esv2743497 CNV Deletion 23290073
esv2743508 CNV Deletion 23290073
esv2407042 CNV Deletion 18987734
esv27511 CNV Gain 19812545
nsv827141 CNV Gain 20364138
esv2743519 CNV Deletion 23290073
esv2384996 CNV Deletion 18987734
esv2743530 CNV Deletion 23290073
esv2743541 CNV Deletion 23290073
esv2743552 CNV Deletion 23290073
nsv871184 CNV Loss 21882294
nsv871221 CNV Loss 21882294
nsv483143 CNV Gain 15286789
esv25426 CNV Loss 19812545
nsv871694 CNV Gain 21882294
nsv871022 CNV Loss 21882294
nsv1854 CNV Insertion 18451855

Relevant External Links for RERE Gene

HapMap Linkage Disequilibrium report
RERE
Human Gene Mutation Database (HGMD)
RERE

Disorders for RERE Gene

UniProtKB/Swiss-Prot

RERE_HUMAN
  • Note=A chromosomal aberration involving RERE is found in the neuroblastoma cell line NGP. Translocation t(1;15)(p36.2;q24).

(1) University of Copenhagen DISEASES for RERE Gene

(1) Novoseek inferred disease relationships for RERE Gene

Disease -log(P) Hits PubMed IDs
drpla 84.4 6

Relevant External Links for RERE

Genetic Association Database (GAD)
RERE
Human Genome Epidemiology (HuGE) Navigator
RERE
genes like me logo Genes that share disorders with RERE: view

Publications for RERE Gene

  1. Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine. (PMID: 10814707) Yanagisawa H. … Yamada M. (Hum. Mol. Genet. 2000) 2 3 4 23
  2. Atrophin proteins interact with the Fat1 cadherin and regulate migration and orientation in vascular smooth muscle cells. (PMID: 19131340) Hou R. … Sibinga N.E. (J. Biol. Chem. 2009) 3 4 23
  3. Identification and characterization of novel genes located at the t(1;15)(p36.2;q24) translocation breakpoint in the neuroblastoma cell line NGP. (PMID: 10729226) Amler L.C. … Hampton G.M. (Genomics 2000) 2 3 4
  4. Human RERE is localized to nuclear promyelocytic leukemia oncogenic domains and enhances apoptosis. (PMID: 11331249) Waerner T. … Kraut N. (Cell Growth Differ. 2001) 3 4
  5. Atrophin 2 recruits histone deacetylase and is required for the function of multiple signaling centers during mouse embryogenesis. (PMID: 14645126) Zoltewicz J.S. … Peterson A.S. (Development 2004) 3 23

Products for RERE Gene

Sources for RERE Gene

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