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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 (Bromodomain And WD Repeat Domain Containing 1) is a Protein Coding gene. Diseases associated with BRWD1 include Down Syndrome and Chordoid Meningioma. Among its related pathways are Chromatin organization and Innate Immune System. An important paralog of this gene is BRWD3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO:0005158 | insulin receptor binding | IEA | -- |
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005730 | nucleolus | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Chromatin organization | ||
2 | Cytokine Signaling in Immune system | ||
3 | Innate Immune System |
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4 | Interleukin-7 signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006325 | chromatin organization | TAS | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0007010 | cytoskeleton organization | IMP | 21834987 |
GO:0008286 | insulin receptor signaling pathway | IEA | -- |
GO:0008360 | regulation of cell shape | IMP | 21834987 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: |
ExUns: | 23b | ^ | 24a | · | 24b | · | 24c | · | 24d | ^ | 25 |
---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||
SP2: | |||||||||||
SP3: | |||||||||||
SP4: | |||||||||||
SP5: | |||||||||||
SP6: | |||||||||||
SP7: | |||||||||||
SP8: | |||||||||||
SP9: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BRWD1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BRWD1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BRWD1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Brwd1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Brwd1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | BRWD1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | BRWD1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BRWD1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BRWD1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | brwd1 30 |
|
||
Str.15115 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | brwd1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | BRWD3 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1555862207 | Likely Benign: not specified | 39,250,901(-) | A/C | INTRON_VARIANT | |
rs377313924 | Not Provided: not provided | 39,210,926(-) | G/A | MISSENSE_VARIANT | |
rs918131106 | Uncertain Significance: Autistic disorder of childhood onset | 39,247,830(-) | C/T | SYNONYMOUS_VARIANT | |
rs1041439 | - | p.Leu1699Pro | |||
rs2056844 | - | p.Gln83Glu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3451153 | CNV | insertion | 20981092 |
esv3568192 | CNV | loss | 25503493 |
nsv1072606 | CNV | deletion | 25765185 |
nsv1122043 | CNV | deletion | 24896259 |
nsv1123560 | CNV | deletion | 24896259 |
nsv1136636 | CNV | deletion | 24896259 |
nsv587480 | CNV | loss | 21841781 |
nsv587481 | CNV | loss | 21841781 |
nsv587482 | CNV | loss | 21841781 |
nsv953626 | CNV | duplication | 24416366 |
nsv956785 | CNV | deletion | 24416366 |
nsv962678 | CNV | duplication | 23825009 |
nsv964495 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
down syndrome |
|
|
chordoid meningioma |
|
|
clear cell meningioma |
|
|
meningioma, familial |
|
|