Gene

BRWD1

Species
Homo sapiens
Symbol
BRWD1
Name
bromodomain and WD repeat domain containing 1
Synonyms
  • bromodomain and WD repeat-containing protein 1
  • C21orf107
Biotype
protein coding gene
Automated Description
Involved in cytoskeleton organization and regulation of cell shape. Located in several cellular components, including axoneme; motile cilium; and nucleolus. Implicated in primary ciliary dyskinesia.
RGD Description
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR16266
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
39.20M39.22M39.24M39.26M39.28M39.30M39.32M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions