Human Gene RERE (ENST00000337907.7) from GENCODE V43
Description: Homo sapiens arginine-glutamic acid dipeptide repeats (RERE), transcript variant 1, mRNA. (from RefSeq NM_012102) RefSeq Summary (NM_012102): 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]. Gencode Transcript: ENST00000337907.7 Gencode Gene: ENSG00000142599.20 Transcript (Including UTRs) Position: hg38 chr1:8,352,397-8,817,465 Size: 465,069 Total Exon Count: 24 Strand: - Coding Region Position: hg38 chr1:8,355,087-8,656,297 Size: 301,211 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;
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