BRWD1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
BRWD1
Official Name
bromodomain and WD repeat domain containing 1 [Source:HGNC Symbol;Acc:HGNC:12760]
Ensembl ID
ENSG00000185658
Bio databases IDs NCBI: 54014 Ensembl: ENSG00000185658
Aliases bromodomain and WD repeat domain containing 1
Synonyms 5330419I02Rik, bromodomain and WD repeat domain containing 1, C21orf107, CILD51, D530019K20RIK, DCAF19, G1-403-16, LOC100911399, N143, repro5, WDR9, WRD9
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BRWD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • transcription regulator
  • WD40 repeats
  • WD domain, G-beta repeat
  • WD40
  • protein binding
  • Bromodomain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • primary myelofibrosis
  • Hutchinson-Gilford progeria syndrome
  • primary ciliary dyskinesia type 51
  • primary ciliary dyskinesia
  • atrial fibrillation
  • premature ovarian failure
  • Down syndrome
  • metabolic syndrome X
  • osteoarthritis
  • pervasive developmental disorder
regulated by
regulates
  • DNA promoter
  • DNA endogenous promoter
  • RNA polymerase II
  • BRWD1
role in cell
  • organization

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • motile cilia
  • axonemes
  • cytosol
  • nucleoplasm
  • nucleoli

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human BRWD1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of cell shape
  • cytoskeleton organization
  • regulation of transcription from RNA polymerase II promoter

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • motile cilium
  • cytosol
  • cilium membrane
  • nucleolus
  • axoneme
  • nucleoplasm

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.