BRWD1 - bromodomain and WD repeat domain containing 1 Gene
Also Known as N143; WDR9; WRD9; DCAF19; C21orf107
Species: Homo sapiens
About BRWD1
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 |
BRWD1 Protein Structure
WD40: WD domain, G-beta repeat (182 - 214)
WD40: WD domain, G-beta repeat (219 - 255)
WD40: WD domain, G-beta repeat (262 - 301)
WD40: WD domain, G-beta repeat (360 - 395)
WD40: WD domain, G-beta repeat (459 - 497)
Bromodomain: Bromodomain (1166 - 1252)
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 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Bronchiectasis |
|
|
| Dextrocardia With Situs Inversus |
|
|
| Male Infertility |
|
|
| Situs Inversus |
|
|
| Premature Menopause |
|
|
| Down Syndrome |
|
|
| Chordoid Meningioma |
|
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 |