Human Gene RERE (uc001apf.3) Description and Page Index
Description: Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 2, mRNA. RefSeq Summary (NM_001042681): 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]. Transcript (Including UTRs) Position: hg19 chr1:8,412,464-8,877,699 Size: 465,236 Total Exon Count: 23 Strand: - Coding Region Position: hg19 chr1:8,415,147-8,716,356 Size: 301,210 Coding Exon Count: 22
ID:RERE_HUMAN DESCRIPTION: RecName: Full=Arginine-glutamic acid dipeptide repeats protein; AltName: Full=Atrophin-1-like protein; AltName: Full=Atrophin-1-related protein; 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. SUBUNIT: 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. INTERACTION: P54259:ATN1; NbExp=3; IntAct=EBI-948076, EBI-945980; SUBCELLULAR LOCATION: Nucleus. Note=Localized in nuclear bodies of variables size. Colocalized with PML and BAX in nuclear PODs. TISSUE SPECIFICITY: Widely expressed. Expressed in tumor cell lines. DOMAIN: The interaction with ATN1 is mediated by the coiled coil domain. DISEASE: Note=A chromosomal aberration involving RERE is found in the neuroblastoma cell line. Translocation t(1;15)(p36.2;q24). SIMILARITY: Contains 1 BAH domain. SIMILARITY: Contains 1 ELM2 domain. SIMILARITY: Contains 1 GATA-type zinc finger. SIMILARITY: Contains 1 SANT domain. SEQUENCE CAUTION: Sequence=AAC31120.1; Type=Frameshift; Positions=588, 596; Sequence=AAD27584.1; Type=Erroneous initiation;
Genetic Association Studies of Complex Diseases and Disorders
Optic Disk Wishal D Ramdas et al. PLoS genetics 2010, A genome-wide association study of optic disc parameters., PLoS genetics.
Schizophrenia Stephan Ripke et al. Nature genetics 2011, Genome-wide association study identifies five new schizophrenia loci., Nature genetics.
Vitiligo Ying Jin et al. The New England journal of medicine 2010, Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo., The New England journal of medicine.
We observed associations between generalized vitiligo and markers implicating multiple genes, some associated with other autoimmune diseases and one (TYR) that may mediate target-cell specificity and indicate a mutually exclusive relationship between susceptibility to vitiligo and susceptibility to melanoma.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9P2R6
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0006338 chromatin remodeling GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006366 transcription from RNA polymerase II promoter GO:0006607 NLS-bearing protein import into nucleus GO:0007275 multicellular organism development GO:0021549 cerebellum development GO:0021691 cerebellar Purkinje cell layer maturation GO:0021930 cerebellar granule cell precursor proliferation GO:0021942 radial glia guided migration of Purkinje cell GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048755 branching morphogenesis of a nerve GO:0048813 dendrite morphogenesis GO:1903507 negative regulation of nucleic acid-templated transcription