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    BRWD1 bromodomain and WD repeat domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 54014, updated on 10-Dec-2024

    Summary

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    Official Symbol
    BRWD1provided by HGNC
    Official Full Name
    bromodomain and WD repeat domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:12760
    See related
    Ensembl:ENSG00000185658 MIM:617824; AllianceGenome:HGNC:12760
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    N143; WDR9; WRD9; CILD51; DCAF19; C21orf107
    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]
    Expression
    Ubiquitous expression in testis (RPKM 5.8), brain (RPKM 4.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BRWD1 in Genome Data Viewer
    Location:
    21q22.2
    Exon count:
    46
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (39184176..39321212, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (37568748..37705729, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (40556102..40685558, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13319 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13320 Neighboring gene PCBP2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18466 Neighboring gene proteasome assembly chaperone 1 Neighboring gene TIMM9 pseudogene 2 Neighboring gene methyltransferase like 21A pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13322 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13323 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13324 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13325 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13326 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:40686351-40687046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:40687047-40687741 Neighboring gene BRWD1 antisense RNA 2 Neighboring gene BRWD1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:40704110-40704610 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18467 Neighboring gene uncharacterized LOC105372804 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:40723570-40723774 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:40731973-40732197 Neighboring gene high mobility group nucleosome binding domain 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia. Guo T, et al. Hum Genet, 2021 May. PMID 33389130
    2. BRWD1 orchestrates epigenetic landscape of late B lymphopoiesis. Mandal M, et al. Nat Commun, 2018 Sep 24. PMID 30250168, Free PMC Article
    3. The dual bromodomain and WD repeat-containing mouse protein BRWD1 is required for normal spermiogenesis and the oocyte-embryo transition. Philipps DL, et al. Dev Biol, 2008 May 1. PMID 18353305, Free PMC Article
    4. Characterisation and expression analysis of the WDR9 gene, located in the Down critical region-2 of the human chromosome 21. Ramos VC, et al. Biochim Biophys Acta, 2002 Sep 27. PMID 12359327
    5. High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2. Vidal-Taboada JM, et al. Biochem Biophys Res Commun, 1998 Feb 13. PMID 9480850

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia.
      Title: Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia.
    2. Study data indicate that, in both mice and humans, BRWD1 is a master orchestrator of enhancer accessibility that cooperates with transcription factor networks to drive late B-cell development.
      Title: BRWD1 orchestrates epigenetic landscape of late B lymphopoiesis.
    3. RNA-seq evidence of biallelic expression of BRWD1 and 10 neighboring genes in at least one primary human tissue tested indicates that the expression of BRWD1 is uncoupled from the control of the maternally inherited 5mCpG imprints at the WRB differentially methylated region (DMR) in disomic controls or trisomy (Down syndrome) individuals.
      Title: Trisomy 21 Alters DNA Methylation in Parent-of-Origin-Dependent and -Independent Manners.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Genome wide association (GWA) predictors of anti-TNFalpha therapeutic responsiveness in pediatric inflammatory bowel disease.
    6. isolation and characterization of the gene located in the Down Syndrome critical region-2 of chromosome 21
      Title: Characterisation and expression analysis of the WDR9 gene, located in the Down critical region-2 of the human chromosome 21.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Ciliary dyskinesia, primary, 51
    MedGen: C5830608 OMIM: 620438 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
    EBI GWAS Catalog
    Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ43918

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cell shape IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in axoneme IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in ciliary membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in motile cilium IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    bromodomain and WD repeat-containing protein 1
    Names
    WD repeat protein WDR9-form2
    WD repeat-containing protein 9
    transcriptional unit N143

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029919.3 RefSeqGene

      Range
      12580..140730
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001007246.3 → NP_001007247.1  bromodomain and WD repeat-containing protein 1 isoform C

      See identical proteins and their annotated locations for NP_001007247.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks multiple 3' exons and has a shorter alternate 3' sequence, as compared to variant 1. The encoded isoform C has a much shorter and distinct C-terminus, as compared to isoform A.
      Source sequence(s)
      AF064861
      Consensus CDS
      CCDS33557.1
      UniProtKB/TrEMBL
      A5PLN2
      Related
      ENSP00000342106.4, ENST00000341322.4

    2. NM_018963.5 → NP_061836.2  bromodomain and WD repeat-containing protein 1 isoform A

      See identical proteins and their annotated locations for NP_061836.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (A).
      Source sequence(s)
      AA807344, AF129408, AJ238214, AJ292465, AK125906, AU139205, BP397411, BQ930702, DA792365
      Consensus CDS
      CCDS13662.1
      UniProtKB/Swiss-Prot
      C9JK25, O43721, Q5R2V0, Q5R2V1, Q6P2D1, Q8TCV3, Q96QG9, Q96QH0, Q9NSI6, Q9NUK1
      Related
      ENSP00000330753.2, ENST00000333229.6
      Conserved Domains (5) summary
      cd05496
      Location:1313 → 1431
      Bromo_WDR9_II; Bromodomain; WDR9 repeat II_like subfamily. WDR9 is a human gene located in the Down Syndrome critical region-2 of chromosome 21. It encodes for a nuclear protein containing WD40 repeats and two bromodomains, which may function as a transcriptional ...
      cd05529
      Location:1149 → 1264
      Bromo_WDR9_I_like; Bromodomain; WDR9 repeat I_like subfamily. WDR9 is a human gene located in the Down Syndrome critical region-2 of chromosome 21. It encodes for a nuclear protein containing WD40 repeats and two bromodomains, which may function as a transcriptional ...
      COG2319
      Location:185 → 540
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:178 → 497
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:189 → 226
      7WD40; WD40 repeat [structural motif]

    3. NM_033656.4 → NP_387505.1  bromodomain and WD repeat-containing protein 1 isoform B

      See identical proteins and their annotated locations for NP_387505.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 3' sequence, as compared to variant 1. The encoded isoform B has a shorter and distinct C-terminus, as compared to isoform A.
      Source sequence(s)
      AF129408, AJ238214, AK125906, DA792365
      Consensus CDS
      CCDS13663.1
      UniProtKB/Swiss-Prot
      Q9NSI6
      Related
      ENSP00000344333.3, ENST00000342449.8
      Conserved Domains (5) summary
      cd05496
      Location:1313 → 1431
      Bromo_WDR9_II; Bromodomain; WDR9 repeat II_like subfamily. WDR9 is a human gene located in the Down Syndrome critical region-2 of chromosome 21. It encodes for a nuclear protein containing WD40 repeats and two bromodomains, which may function as a transcriptional ...
      cd05529
      Location:1149 → 1264
      Bromo_WDR9_I_like; Bromodomain; WDR9 repeat I_like subfamily. WDR9 is a human gene located in the Down Syndrome critical region-2 of chromosome 21. It encodes for a nuclear protein containing WD40 repeats and two bromodomains, which may function as a transcriptional ...
      COG2319
      Location:185 → 540
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:178 → 497
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:189 → 226
      7WD40; WD40 repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      39184176..39321212 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028373.2 → XP_016883862.1  bromodomain and WD repeat-containing protein 1 isoform X2

    2. XM_011529611.2 → XP_011527913.1  bromodomain and WD repeat-containing protein 1 isoform X1

      Conserved Domains (5) summary
      cd05529
      Location:1149 → 1264
      Bromo_WDR9_I_like; Bromodomain; WDR9 repeat I_like subfamily. WDR9 is a human gene located in the Down Syndrome critical region-2 of chromosome 21. It encodes for a nuclear protein containing WD40 repeats and two bromodomains, which may function as a transcriptional ...
      COG2319
      Location:185 → 540
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:178 → 497
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:189 → 226
      7WD40; WD40 repeat [structural motif]
      cl02556
      Location:1301 → 1383
      Bromodomain; Bromodomain. Bromodomains are found in many chromatin-associated proteins and in nuclear histone acetyltransferases. They interact specifically with acetylated lysine.

    3. XM_011529612.2 → XP_011527914.1  bromodomain and WD repeat-containing protein 1 isoform X3

      Conserved Domains (5) summary
      cd05496
      Location:1033 → 1151
      Bromo_WDR9_II; Bromodomain; WDR9 repeat II_like subfamily. WDR9 is a human gene located in the Down Syndrome critical region-2 of chromosome 21. It encodes for a nuclear protein containing WD40 repeats and two bromodomains, which may function as a transcriptional ...
      cd05529
      Location:869 → 984
      Bromo_WDR9_I_like; Bromodomain; WDR9 repeat I_like subfamily. WDR9 is a human gene located in the Down Syndrome critical region-2 of chromosome 21. It encodes for a nuclear protein containing WD40 repeats and two bromodomains, which may function as a transcriptional ...
      COG2319
      Location:5 → 260
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:43 → 86
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:5 → 263
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    4. XM_011529613.2 → XP_011527915.1  bromodomain and WD repeat-containing protein 1 isoform X4

      Conserved Domains (2) summary
      cd05496
      Location:324 → 442
      Bromo_WDR9_II; Bromodomain; WDR9 repeat II_like subfamily. WDR9 is a human gene located in the Down Syndrome critical region-2 of chromosome 21. It encodes for a nuclear protein containing WD40 repeats and two bromodomains, which may function as a transcriptional ...
      cd05529
      Location:160 → 275
      Bromo_WDR9_I_like; Bromodomain; WDR9 repeat I_like subfamily. WDR9 is a human gene located in the Down Syndrome critical region-2 of chromosome 21. It encodes for a nuclear protein containing WD40 repeats and two bromodomains, which may function as a transcriptional ...

    5. XM_017028375.2 → XP_016883864.1  bromodomain and WD repeat-containing protein 1 isoform X5

    6. XM_047440841.1 → XP_047296797.1  bromodomain and WD repeat-containing protein 1 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      37568748..37705729 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324570.1 → XP_054180545.1  bromodomain and WD repeat-containing protein 1 isoform X2

    2. XM_054324569.1 → XP_054180544.1  bromodomain and WD repeat-containing protein 1 isoform X1

    3. XM_054324571.1 → XP_054180546.1  bromodomain and WD repeat-containing protein 1 isoform X4

    4. XM_054324572.1 → XP_054180547.1  bromodomain and WD repeat-containing protein 1 isoform X5

    5. XM_054324573.1 → XP_054180548.1  bromodomain and WD repeat-containing protein 1 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NSI6.4 GenPept UniProtKB/Swiss-Prot:Q9NSI6

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