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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
  • 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 coronin-1a deficiency and achalasia-addisonianism-alacrimia syndrome. 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

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BRWD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for BRWD1 Gene

Chromosome:
21
Start:
39,184,176 bp from pter
End:
39,321,559 bp from pter
Size:
137,384 bases
Orientation:
Minus strand

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

Proteomics data for BRWD1 Gene at MOPED

Post-translational modifications for BRWD1 Gene

Antibody Products

No data available for DME Specific Peptides for BRWD1 Gene

Domains & Families for BRWD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NSI6

UniProtKB/Swiss-Prot:

BRWD1_HUMAN :
  • Contains 2 bromo domains.
  • Contains 8 WD repeats.
Domain:
  • Contains 2 bromo domains.
Similarity:
  • Contains 8 WD repeats.
genes like me logo Genes that share domains with BRWD1: view

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.
genes like me logo Genes that share phenotypes with BRWD1: view

Animal Model Products

miRNA for BRWD1 Gene

miRTarBase miRNAs that target BRWD1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for BRWD1 Gene COMPARTMENTS Subcellular localization image for BRWD1 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
extracellular 1
lysosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for BRWD1 Gene

Pathways & Interactions for BRWD1 Gene

SuperPathways for BRWD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BRWD1 Gene

None

No data available for Pathways by source and 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:

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 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, MOPED, and MaxQB for BRWD1 Gene



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.
genes like me logo Genes that share expression patterns with BRWD1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia BRWD1 35
  • 90.23 (n)
  • 89.67 (a)
BRWD1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BRWD1 35
  • 89.59 (n)
  • 89.38 (a)
BRWD1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Brwd1 35
  • 81.6 (n)
  • 80.86 (a)
Brwd1 16
Brwd1 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BRWD1 35
  • 99.5 (n)
  • 99.35 (a)
BRWD1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Brwd1 35
  • 81.66 (n)
  • 80.39 (a)
oppossum
(Monodelphis domestica)
Mammalia BRWD1 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BRWD1 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves BRWD1 35
  • 69.04 (n)
  • 67.06 (a)
BRWD1 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BRWD1 36
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia brwd1 35
  • 60.37 (n)
  • 55.62 (a)
Str.15115 35
zebrafish
(Danio rerio)
Actinopterygii brwd1 35
  • 62.86 (n)
  • 64.13 (a)
brwd1 36
  • 46 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta BRWD3 36
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 45 (a)
OneToMany
Species with no ortholog for BRWD1:
  • 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
rs2056844 - 39,298,534(+) GCGCT(C/G/T)GCAGA reference, missense
rs2183573 - 39,202,379(+) TGATG(A/G)TTCTG reference, missense
rs1041439 - 39,199,320(+) GTAAT(A/G)GTTGA reference, missense
rs2234548 - 39,196,602(-) TTCCA(A/G)ATCAT reference, missense
rs1065242 -- 39,195,790(-) TGGGA(C/G)GTGTA intron-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv913744 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
BRWD1
Human Gene Mutation Database (HGMD)
BRWD1

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

Disorders for BRWD1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for BRWD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
coronin-1a deficiency
  • coronin 1a
achalasia-addisonianism-alacrimia syndrome
  • triple-a syndrome
- 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 V.C. … Oliva R. (Biochim. Biophys. Acta 2002) 3 4 23 67
  2. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. Novel Cul3 binding proteins function to remodel E3 ligase complexes. (PMID: 25011449) Wimuttisuk W. … Singer J.D. (BMC Cell Biol. 2014) 3

Products for BRWD1 Gene

Sources for BRWD1 Gene

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