Bromodomain and WD repeat-containing protein 3

BRWD3
Identifiers
AliasesBRWD3, BRODL, MRX93, bromodomain and WD repeat domain containing 3
External IDsMGI: 3029414 HomoloGene: 18736 GeneCards: BRWD3
Gene location (Human)
Chr.X chromosome (human)[1]
BandXq21.1Start80,670,854 bp[1]
End80,809,688 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr X: 108.74 – 108.83 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Bromodomain and WD repeat-containing protein 3 is a protein that in humans is encoded by the BRWD3 gene.[5][6][7]

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.[7]

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.[7]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000165288 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000063663 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ 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.
  6. ↑ 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.
  7. 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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