BRWD1 - bromodomain and WD repeat domain containing 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54014

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

WD40: WD domain, G-beta repeat (182 - 214)

WD40

WD40: WD domain, G-beta repeat (219 - 255)

WD40

WD40: WD domain, G-beta repeat (262 - 301)

WD40

WD40: WD domain, G-beta repeat (360 - 395)

WD40

WD40: WD domain, G-beta repeat (459 - 497)

Bromodomain

Bromodomain: Bromodomain (1166 - 1252)

Bromodomain

Bromodomain: Bromodomain (1322 - 1402)

  • 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

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
Others BRWD1 NCBI