Bromodomain and WD repeat-containing protein 3

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BRWD3
Identifiers
Aliases BRWD3, BRODL, MRX93, bromodomain and WD repeat domain containing 3
External IDs MGI: 3029414 HomoloGene: 18736 GeneCards: BRWD3
Gene location (Human)
X chromosome (human)
Chr. X chromosome (human)[1]
X chromosome (human)
Genomic location for BRWD3
Genomic location for BRWD3
Band Xq21.1 Start 80,670,854 bp[1]
End 80,809,688 bp[1]
RNA expression pattern
PBB GE BRWD3 gnf1h07378 s at fs.png

PBB GE BRWD3 gnf1h02396 at fs.png

PBB GE BRWD3 gnf1h02397 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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 [3] [4]
Wikidata
View/Edit Human View/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[edit]

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[edit]

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[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000165288 - Ensembl, May 2017
  2. ^ a b c 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. ^ a b c "Entrez Gene: BRWD3 bromodomain and WD repeat domain containing 3". 

External links[edit]

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.