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FLASH GENE
Symbol RERE contributors: mct - updated : 28-11-2012
HGNC name arginine-glutamic acid dipeptide (RE) repeats
HGNC id 9965
Location 1p36.23      Physical location : 8.412.465 - 8.877.699
Synonym name
  • deleted in neuroblastom1/atrophin related protein
  • RE repeats encoded
  • atrophin 2
  • atrophin-1 like protein
    • Synonym symbol(s) KIAA0458, ARP, ARG, ATN1L, DNB1, ATR2, DNB1, ATN2
    DNA
    TYPE functioning gene
    STRUCTURE 465.24 kb     13 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - D1S214 - D1S2663 - D1S2694 - D1S503 - RERE - D1S450 - D1S244 - cen
    Authors Gene Map (98)
    Physical map
    TNFRSF25 1p36.2 tumor necrosis factor receptor superfamily, member 25 KIAA0720 1p36.23 tumor necrosis factor receptor superfamily, member 25 FLJ23323 1p36.23 hypothetical protein FLJ23323 TAS1R1 1p36.23 taste receptor, type 1, member 1 HKR3 1p36.31 GLI-Kruppel family member HKR3 KIAA0469 1p36.23 KIAA0469 gene product PHF13 1p36.23 PHD finger protein 13 MGC33488 1p36.23 hypothetical protein MGC33488 FLJ10737 1p36.23 hypothetical protein FLJ10737 CAMTA1 1p36.31-p36.23 calmodulin binding transcription activator 1 VAMP3 1pter-p36.32 vesicle-associated membrane protein 3 (cellubrevin) PER3 1p36 period homolog 3 (Drosophila) UTS2 1p36 urotensin 2 TNFRSF9 1p36 tumor necrosis factor receptor superfamily, member 9 PARK7 1p36.33-p36.12 Parkinson disease (autosomal recessive, early onset) 7 MIG-6 1p36.12-36.33 mitogen-inducible gene 6 LOC390993 1 similar to 60S ribosomal protein L7a (Surfeit locus protein 3) (PLA-X polypeptide) DNB5 1p36.2-p36.1 deleted in neuroblastoma 5 RERE 1p36.1-p36.2 arginine-glutamic acid dipeptide (RE) repeats DKFZp566H0824 1p36.22 hypothetical protein DKFZp566H0824 LOC390994 1 similar to 60S ribosomal protein L23a ENO1 1p36.2 enolase 1, (alpha) LOC148915 1p36.22 hypothetical LOC148915 CA6 1p36.2 carbonic anhydrase VI LOC390995 1 similar to Solute carrier family 2, facilitated glucose transporter, member 5 (Glucose transporter type 5, small intestine) (Fructose transporter) SLC2A5 1p36.2 solute carrier family 2 (facilitated glucose/fructose transporter), member 5 GPR157 1p36.22 G protein-coupled receptor 157 H6PD 1p36.3 hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) SSB1 1p36.22 SPRY domain-containing SOCS box protein SSB-1 MGC4399 1p36.22 mitochondrial carrier protein LOC199953 1p36.22 similar to expressed sequence AV028368 PIK3CD 1p36.2 phosphoinositide-3-kinase, catalytic, delta polypeptide CLSTN1 1p36.22 calsyntenin 1 CTNNBIP1 1pter-p36.31 catenin, beta interacting protein 1 LZIC 1p36.22 leucine zipper and CTNNBIP1 domain containing NMNAT1 1p36.2 nicotinamide nucleotide adenylyltransferase 1 CRBPIV 1p36.22 retinoid binding protein 7 UBE4B 1p36.3- ubiquitination factor E4B (UFD2 homolog, yeast) KIF1B 1p36.2 kinesin family member 1B
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 8022 - 1566 - 2007 17150957
    24 - 8207 - 1566 - 2007 17150957
  • ATN2L
  • N-terminal MTA-2-homologous domain followed by an Atrophin-1-related domain
  • has a transcriptional repression activity that is not found in the other Atrophin polypeptides and that is required for normal embryogenesis
    • 13 - 6321 - 1012 in vascular smooth muscle cell, mRNA expression was more responsive to stimuli 2007 17150957
  • ATN2S
  • expressed via an internal promoter, consists solely of the Atrophin domain
  • Atrophin-1 and the short form of RERE, can act as potent and evolutionarily conserved transcriptional activators
    		•
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrinepancreas   highly
    Nervousbrain   highly
    Respiratorylung   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a region of alternating glutamine and proline residues
  • a region of arginine aspartic
  • ELM2 (EGL-27 and MTA1 homology 2) domain, and SANT (SWI3/ADA2/N-CoR/TFIII-B) domain, which are also present in other important transcriptional cofactors (both domains orchestrate molecular events that lead to a stable methylation of histone H3-lysine 9)
    • HOMOLOGY
    interspecies homolog to rattus Atn1 protein
    intraspecies homolog to DRPLA,C terminal portion of RERE
    Homologene
    FAMILY Atrophin family proteins
    CATEGORY tumor suppressor
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text
  • FAT1 and RERE colocalized at cell-cell junctions, in the perinuclear area, and in the nucleus
    • basic FUNCTION
  • protein protein interaction
  • ATN1 and RERE function as bifunctional transcriptional regulators
  • required for the normal patterning of the early vertebrate embryo, including the central nervous system, pharyngeal arches, and limbs
  • playing an important role in the control of cell survival
  • FAT1 and ATRS (ATN1 and RERE), act in concert after vascular injury but show further that distinct Atr isoforms have disparate effects on vascular smooth muscle cells directional migration
  • controls retinoic acid signalling, which is required to maintain somite symmetry by interacting with FGF8 in the left-right signalling pathway
  • controls retinoic acid signalling and somite bilateral symmetry
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component RERE forms a complex with NR2F2, EP300 and a retinoic acid receptor, which is recruited to the retinoic acid regulatory element of retinoic acid targets
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding DRPLA enhancer by extended polyglutamine
  • binds histone deacetylase 1 and 2 (HDAC1/2), and orphan nuclear receptors such as NR2E1
  • interactions between FAT1 and Atrophins (ATN1, RERE) might contribute to FAT1 effects on vascular smooth muscle cells
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mutation in Rere leads to the formation of asymmetrical somites in mouse embryos, similar to embryos deprived of retinoic acid