Bromodomain and WD repeat-containing protein 3
| Bromodomain and WD repeat domain containing 3 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | BRWD3 ; BRODL; MRX93 | ||||||||||
| External IDs | OMIM: 300553 MGI: 3029414 HomoloGene: 18736 GeneCards: BRWD3 Gene | ||||||||||
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| RNA expression pattern | |||||||||||
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| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 254065 | 382236 | |||||||||
| Ensembl | ENSG00000165288 | ENSMUSG00000063663 | |||||||||
| UniProt | Q6RI45 | A2AHJ4 | |||||||||
| RefSeq (mRNA) | NM_153252 | NM_001081477 | |||||||||
| RefSeq (protein) | NP_694984 | NP_001074946 | |||||||||
| Location (UCSC) |
Chr X: 80.67 – 80.81 Mb |
Chr X: 108.74 – 108.83 Mb | |||||||||
| PubMed search | |||||||||||
Bromodomain and WD repeat-containing protein 3 is a protein that in humans is encoded by the BRWD3 gene.[1][2][3]
Function
The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription.[3]
Clinical significance
Mutations in this gene can cause mental retardation or permanent paralysis X-linked type 93, which is also referred to as mental retardation X-linked with macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia.[3]
References
- ↑ Kalla C, Nentwich H, Schlotter M, Mertens D, Wildenberger K, Dohner H, Stilgenbauer S, Lichter P (Dec 2004). "Translocation t(X;11)(q13;q23) in B-cell chronic lymphocytic leukemia disrupts two novel genes". Genes Chromosomes Cancer 42 (2): 128–43. doi:10.1002/gcc.20131. PMID 15543602.
- ↑ Muller P, Kuttenkeuler D, Gesellchen V, Zeidler MP, Boutros M (Aug 2005). "Identification of JAK/STAT signalling components by genome-wide RNA interference". Nature 436 (7052): 871–5. doi:10.1038/nature03869. PMID 16094372.
- 1 2 3 "Entrez Gene: BRWD3 bromodomain and WD repeat domain containing 3".
Further reading
- Field M, Tarpey PS, Smith R, et al. (2007). "Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly". Am. J. Hum. Genet. 81 (2): 367–74. doi:10.1086/520677. PMC 1950797. PMID 17668385.
- Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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