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Aliases for BRWD1 Gene

Aliases for BRWD1 Gene

  • Bromodomain And WD Repeat Domain Containing 1 2 3 5
  • WD Repeat-Containing Protein 9 3 4
  • C21orf107 3 4
  • WDR9 3 4
  • Bromodomain And WD Repeat-Containing Protein 1 3
  • Chromosome 21 Open Reading Frame 107 2
  • WD Repeat Protein WDR9-Form2 3
  • Transcriptional Unit N143 3
  • WD Repeat Domain 9 2
  • DCAF19 3
  • N143 3

External Ids for BRWD1 Gene

Previous HGNC Symbols for BRWD1 Gene

  • C21orf107
  • WDR9

Previous GeneCards Identifiers for BRWD1 Gene

  • GC21M039480
  • GC21M040556
  • GC21M026027

Summaries for BRWD1 Gene

Entrez Gene Summary for BRWD1 Gene

  • 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]

GeneCards Summary for BRWD1 Gene

BRWD1 (Bromodomain And WD Repeat Domain Containing 1) is a Protein Coding gene. Diseases associated with BRWD1 include Down Syndrome. Among its related pathways are Chromatin organization and Interleukin-7 signaling. An important paralog of this gene is BRWD3.

UniProtKB/Swiss-Prot for BRWD1 Gene

  • May be a transcriptional activator. May be involved in chromatin remodeling (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.

Gene Wiki entry for BRWD1 Gene

Additional gene information for BRWD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BRWD1 Gene

Genomics for BRWD1 Gene

Regulatory Elements for BRWD1 Gene

Enhancers for BRWD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21H039104 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +216.3 216322 2.3 PKNOX1 DMAP1 ZNF155 ZNF366 ZNF207 FOS ZNF680 ZBTB2 ZNF114 CEBPB HMGN1 ETS2 BRWD1 RPL23AP12 ENSG00000237609
GH21H039311 1.2 ENCODE 14.5 +8.1 8081 3.4 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 SP3 NFYC HMGN1 PSMG1 WRB RNF6P1 MYL6P2 BRWD1 LCA5L BRWD1-AS1 SH3BGR BRWD1-AS2
GH21H038356 1.2 Ensembl ENCODE 14.1 +965.3 965259 0.6 HDGF RB1 NFIB ZNF473 YBX1 GLI4 RAD21 ZNF155 ZNF207 ZNF143 PSMG1 DYRK1A HMGN1 BRWD1 KCNJ15 LINC01423 GC21M038398 GC21M038399
GH21H039379 1.4 FANTOM5 ENCODE 11.5 -59.1 -59086 2 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 ZNF548 WRB HMGN1 BRWD1 GC21P039407
GH21H039450 1.5 FANTOM5 Ensembl ENCODE 9.9 -130.8 -130772 3.9 PKNOX1 FOXA2 ATF1 SIN3A FEZF1 YY1 ELK1 FOS ATF7 SP3 LCA5L SH3BGR HMGN1 WRB BRWD1 PCP4 MIR6508 GC21P039465
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BRWD1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for BRWD1 Gene

Genomic Locations for BRWD1 Gene
chr21:39,184,176-39,321,559
(GRCh38/hg38)
Size:
137,384 bases
Orientation:
Minus strand
chr21:40,556,102-40,693,485
(GRCh37/hg19)

Genomic View for BRWD1 Gene

Genes around BRWD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BRWD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BRWD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BRWD1 Gene

Proteins for BRWD1 Gene

  • Protein details for BRWD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NSI6-BRWD1_HUMAN
    Recommended name:
    Bromodomain and WD repeat-containing protein 1
    Protein Accession:
    Q9NSI6
    Secondary Accessions:
    • C9JK25
    • O43721
    • Q5R2V0
    • Q5R2V1
    • Q6P2D1
    • Q8TCV3
    • Q96QG9
    • Q96QH0
    • Q9NUK1

    Protein attributes for BRWD1 Gene

    Size:
    2320 amino acids
    Molecular mass:
    262936 Da
    Quaternary structure:
    • Interacts with SMARCA4.
    SequenceCaution:
    • Sequence=CAA10896.1; Type=Frameshift; Positions=1762, 1770; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BRWD1 Gene

    Alternative splice isoforms for BRWD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BRWD1 Gene

Post-translational modifications for BRWD1 Gene

  • Ubiquitination at Lys1037
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BRWD1 Gene

Domains & Families for BRWD1 Gene

Gene Families for BRWD1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BRWD1: view

No data available for UniProtKB/Swiss-Prot for BRWD1 Gene

Function for BRWD1 Gene

Molecular function for BRWD1 Gene

UniProtKB/Swiss-Prot Function:
May be a transcriptional activator. May be involved in chromatin remodeling (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.

Phenotypes From GWAS Catalog for BRWD1 Gene

Gene Ontology (GO) - Molecular Function for BRWD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with BRWD1: view
genes like me logo Genes that share phenotypes with BRWD1: view

miRNA for BRWD1 Gene

miRTarBase miRNAs that target BRWD1

Clone Products

  • Addgene plasmids for BRWD1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BRWD1 Gene

Localization for BRWD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BRWD1 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BRWD1 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BRWD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 16780588
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with BRWD1: view

Pathways & Interactions for BRWD1 Gene

genes like me logo Genes that share pathways with BRWD1: view

Gene Ontology (GO) - Biological Process for BRWD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IBA --
GO:0007010 cytoskeleton organization IMP 21834987
genes like me logo Genes that share ontologies with BRWD1: view

No data available for SIGNOR curated interactions for BRWD1 Gene

Drugs & Compounds for BRWD1 Gene

No Compound Related Data Available

Transcripts for BRWD1 Gene

Unigene Clusters for BRWD1 Gene

Bromodomain and WD repeat domain containing 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for BRWD1

Alternative Splicing Database (ASD) splice patterns (SP) for BRWD1 Gene

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:

Relevant External Links for BRWD1 Gene

GeneLoc Exon Structure for
BRWD1
ECgene alternative splicing isoforms for
BRWD1

Expression for BRWD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BRWD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BRWD1 Gene

This gene is overexpressed in Synovial fluid (55.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BRWD1 Gene



NURSA nuclear receptor signaling pathways regulating expression of BRWD1 Gene:

BRWD1

SOURCE GeneReport for Unigene cluster for BRWD1 Gene:

Hs.654740

mRNA Expression by UniProt/SwissProt for BRWD1 Gene:

Q9NSI6-BRWD1_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for BRWD1 Gene

  • Heart(4.4)
  • Pancreas(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with BRWD1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BRWD1 Gene

Orthologs for BRWD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BRWD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BRWD1 33 34
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia BRWD1 33 34
  • 90.23 (n)
dog
(Canis familiaris)
Mammalia BRWD1 33 34
  • 89.59 (n)
rat
(Rattus norvegicus)
Mammalia Brwd1 33
  • 81.66 (n)
mouse
(Mus musculus)
Mammalia Brwd1 33 16 34
  • 81.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BRWD1 34
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BRWD1 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves BRWD1 33 34
  • 69.04 (n)
lizard
(Anolis carolinensis)
Reptilia BRWD1 34
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia brwd1 33
  • 60.37 (n)
Str.15115 33
zebrafish
(Danio rerio)
Actinopterygii brwd1 33 34
  • 62.86 (n)
fruit fly
(Drosophila melanogaster)
Insecta BRWD3 34
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
OneToMany
Species where no ortholog for BRWD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BRWD1 Gene

ENSEMBL:
Gene Tree for BRWD1 (if available)
TreeFam:
Gene Tree for BRWD1 (if available)

Paralogs for BRWD1 Gene

Paralogs for BRWD1 Gene

Pseudogenes.org Pseudogenes for BRWD1 Gene

genes like me logo Genes that share paralogs with BRWD1: view

Variants for BRWD1 Gene

Sequence variations from dbSNP and Humsavar for BRWD1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1000017157 -- 39,242,884(+) CACTG(C/T)TCAGA intron-variant
rs1000075201 -- 39,201,114(+) CTCAC(C/T)ATCCT intron-variant
rs1000080824 -- 39,227,327(+) ATACA(C/T)AAGCT intron-variant
rs1000099712 -- 39,279,325(+) CATAC(G/T)CGTTA intron-variant
rs1000145144 -- 39,199,669(+) TAGAA(A/G)TAAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BRWD1 Gene

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

Variation tolerance for BRWD1 Gene

Residual Variation Intolerance Score: 3.68% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.54; 96.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BRWD1 Gene

Human Gene Mutation Database (HGMD)
BRWD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BRWD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BRWD1 Gene

Disorders for BRWD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BRWD1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
down syndrome
  • leukemia, megakaryoblastic, with or without down syndrome, somatic
- elite association - COSMIC cancer census association via MalaCards
Search BRWD1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BRWD1

Genetic Association Database (GAD)
BRWD1
Human Genome Epidemiology (HuGE) Navigator
BRWD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BRWD1
genes like me logo Genes that share disorders with BRWD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BRWD1 Gene

Publications for BRWD1 Gene

  1. Characterisation and expression analysis of the WDR9 gene, located in the Down critical region-2 of the human chromosome 21. (PMID: 12359327) Ramos VC … Oliva R (Biochimica et biophysica acta 2002) 3 4 22 60
  2. Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci. (PMID: 22365631) Greenwood TA … Kelsoe JR (Biological psychiatry 2012) 3 45 60
  3. Identification and characterization of a set of conserved and new regulators of cytoskeletal organization, cell morphology and migration. (PMID: 21834987) Bai SW … Ridley AJ (BMC biology 2011) 3 4 60
  4. Genome wide association (GWA) predictors of anti-TNFalpha therapeutic responsiveness in pediatric inflammatory bowel disease. (PMID: 20014019) Dubinsky MC … Rotter JI (Inflammatory bowel diseases 2010) 3 45 60
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60

Products for BRWD1 Gene

  • Addgene plasmids for BRWD1

Sources for BRWD1 Gene

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