BRWD3 BRWD3 [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: BRWD3provided by FlyBase
Official Full Name: BRWD3provided by FlyBase
Primary source: FLYBASE:FBgn0011785
Locus tag: Dmel_CG31132
See related: AllianceGenome:FB:FBgn0011785
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Drosophila melanogaster
Lineage: Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as: anon-WO0118547.520; anon-WO0118547.620; brwd3; Brwd3; CG18670; CG31132; CG6400; dBRWD3; Dmel\CG31132; l(3)05842; l(3)s5349; psg13; ram
Summary: Involved in several processes, including autophagic cell death; larval midgut cell programmed cell death; and positive regulation of receptor signaling pathway via JAK-STAT. Predicted to be active in nucleus. Is expressed in adult heart; embryonic/larval salivary gland; and spermatozoon. Human ortholog(s) of this gene implicated in non-syndromic X-linked intellectual disability 93 and primary ciliary dyskinesia. Orthologous to several human genes including BRWD3 (bromodomain and WD repeat domain containing 3) and PHIP (pleckstrin homology domain interacting protein). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: 95F12-95F13; 3-84 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	3R	NT_033777.3 (24319000..24328619)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	3R	NT_033777.2 (20144722..20154341)

Chromosome 3R - NT_033777.3 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BRWD3 promotes KDM5 degradation to maintain H3K4 methylation levels.
Title: BRWD3 promotes KDM5 degradation to maintain H3K4 methylation levels.
study delineates the clinical features associated with BRWD3 null variants and partial gene deletions, and suggests that BRWD3 should be included in the differential diagnosis of patients with an overgrowth-intellectual disability (OGID) phenotype, particularly in male patients with a mild or moderate intellectual disability associated with macrocephaly and/or obesity
Title: Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
Our findings identified dBRWD3 as a critical regulator that is uniquely required for ectopic gene expression and aberrant tissue overgrowth caused by PcG mutations.
Title: dBRWD3 Regulates Tissue Overgrowth and Ectopic Gene Expression Caused by Polycomb Group Mutations.
Intellectual disability-associated BRWD3 regulates gene expression through inhibition of HIRA/YEM-mediated chromatin deposition of histone H3.3.
Title: Intellectual disability-associated dBRWD3 regulates gene expression through inhibition of HIRA/YEM-mediated chromatin deposition of histone H3.3.
BRWD3 functions as a Damage-specific DNA binding protein 1 (DDB1)- and CULLIN (CUL)4-associated factor in a Cullin4-RING Finger E3 Ligase (CRL4) that mediates light-dependent binding of dCRY to CUL4-ROC1-DDB1-BRWD3, inducing ubiquitylation of dCRY
Title: Ramshackle (Brwd3) promotes light-induced ubiquitylation of Drosophila Cryptochrome by DDB1-CUL4-ROC1 E3 ligase complex.
In the developing retina, ramshackle (ram) mutant cells have morphological defects including disrupted apical junctions, disorganized actin cytoskeletons and mislocalized nuclei.
Title: The Drosophila ramshackle gene encodes a chromatin-associated protein required for cell morphology in the developing eye.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Dm0322 (e-PCR)
- UniSTS:67365

Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by FlyBase

Process	Evidence Code	Pubs
involved_in autophagic cell death	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in larval midgut cell programmed cell death	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of receptor signaling pathway via JAK-STAT	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of cell shape	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of photoreceptor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to ecdysone	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: BRWD3

Names: BRWD3-PA; CG31132-PA; lethal (3) 05842; ramshackle

NCBI Reference Sequences (RefSeq)

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Genome Annotation

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference assembly

Genomic

NT_033777.3 Reference assembly

Range

24319000..24328619

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_170139.3 → NP_732982.1 BRWD3 [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_732982.1

Status: REVIEWED

UniProtKB/TrEMBL

Q9VC96

Related

FBpp0083988

Conserved Domains (6) summary

cd05496
Location:1371 → 1489

Bromo_WDR9_II; Bromodomain; WDR9 repeat II_like subfamily. WDR9 is a human gene located in the Down Syndrome critical region-2 of chromosome 21. It encodes for a nuclear protein containing WD40 repeats and two bromodomains, which may function as a transcriptional ...

cd05529
Location:1196 → 1311

Bromo_WDR9_I_like; Bromodomain; WDR9 repeat I_like subfamily. WDR9 is a human gene located in the Down Syndrome critical region-2 of chromosome 21. It encodes for a nuclear protein containing WD40 repeats and two bromodomains, which may function as a transcriptional ...

COG2319
Location:181 → 544

WD40; WD40 repeat [General function prediction only]

cd00200
Location:176 → 496

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

pfam06507
Location:1083 → 1167

Auxin_resp; Auxin response factor

sd00039
Location:186 → 223

7WD40; WD40 repeat [structural motif]