ID:BRWD3_HUMAN DESCRIPTION: RecName: Full=Bromodomain and WD repeat-containing protein 3; FUNCTION: Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. TISSUE SPECIFICITY: Found in most adult tissues. Down-regulated in a majority of the B-CLL cases examined. DEVELOPMENTAL STAGE: Expressed in fetal liver. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Note=A chromosomal aberration involving BRWD3 can be found in patients with B-cell chronic lymphocytic leukemia (B- CLL). Translocation t(X;11)(q21;q23) with ARHGAP20 does not result in fusion transcripts but disrupts both genes. DISEASE: Defects in BRWD3 are the cause of mental retardation X- linked type 93 (MRX93) [MIM:300659]; also known as mental retardation X-linked with macrocephaly. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Mentally retarded individuals are at least twice as likely to have macrocephaly than are their intellectually normal peers. SIMILARITY: Contains 2 bromo domains. SIMILARITY: Contains 9 WD repeats. CAUTION: The translocation involving this gene was originally published as t(X;11)(q13;23) (PubMed:15543602), but BRWD3 is localized to Xq21 and not to Xq13. SEQUENCE CAUTION: Sequence=BAC04641.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BRWD3ID42978chXq21.html";
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 Q6RI45
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Biological Process: GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0007010 cytoskeleton organization GO:0008360 regulation of cell shape