BRWD1 - bromodomain and WD repeat domain containing 1 Gene

Homo sapiens

Also known as N143; WDR9; WRD9; DCAF19; C21orf107

Gene ID: 54014 | Gene type: protein coding

About BRWD1

Cytogenetic location: 21q22.2 Genomic coordinates (GRCh38): 21:39,184,176-39,321,212 (from NCBI)

This gene has 16 transcripts (splice variants), 198 orthologues and 2 paralogues. Ubiquitous expression in testis (RPKM 5.8), brain (RPKM 4.9) and 25 other tissues.

Summary

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]

BRWD1 Products(3)

mRNA	Protein	Name
NM_001007246.3	NP_001007247.1	bromodomain and WD repeat-containing protein 1 isoform C
NM_018963.5	NP_061836.2	bromodomain and WD repeat-containing protein 1 isoform A
NM_033656.4	NP_387505.1	bromodomain and WD repeat-containing protein 1 isoform B

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	21834987	GOA
involved in regulation of cell shape	IMP IMP: Inferred from mutant phenotype	21834987	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in axoneme	IMP IMP: Inferred from mutant phenotype	33389130	GOA
located in motile cilium	IMP IMP: Inferred from mutant phenotype	33389130	GOA
located in nucleus	IDA IDA: Inferred from direct assay	25593309	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BRWD1 Protein Structure

WD40

Bromodomain

0
400
800
1200
1600
2000
2320 a.a.

Protein Preferred Names

Protein Names

bromodomain and WD repeat-containing protein 1

WD repeat protein WDR9-form2

Related Diseases

Diseases

Alias

Bronchiectasis

Polynesian Bronchiectasis	Kartagener Syndrome
Bronchiectasis Nos

Dextrocardia With Situs Inversus

Situs Inversus Totalis	Complete Situs Inversus
Complete Situs Inversus Viscerum	Situs Inversus

Male Infertility

Infertility, Male	Infertility Male
Male Sterility	Absolute Infertility

Situs Inversus

Situs Inversus Viscerum	Laterality Sequence
Complete Transposition	Siv

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

Down Syndrome

Trisomy 21	Complete Trisomy 21 Syndrome
Down'S Syndrome	Trisomy 21 Syndrome
Down'S Syndrome - Trisomy 21	Downs Syndrome
G Trisomy	47,Xx,+21
47,Xy,+21	Trisomy G
Down Syndrome, Susceptibility To	Chromosome 21 Trisomy
Trisomy 21 Nos	Abnormal Autosomes 21

Chordoid Meningioma

Meningioma, Chordoid

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01639	BRWD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	BRWD1	VGNC	VGNC:97369
Rattus norvegicus	BRWD1	RGD	RGD:1309030
Mus musculus	BRWD1	MGD	MGI:1890651
Canis familiaris	BRWD1	VGNC	VGNC:38536
Macaca mulatta	BRWD1	VGNC	VGNC:70300
Bos taurus	BRWD1	VGNC	VGNC:26575

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