Human Gene BRWD1 (ENST00000342449.8_12) from GENCODE V47lift37
  Description: bromodomain and WD repeat domain containing 1, transcript variant 2 (from RefSeq NM_033656.4)
Gencode Transcript: ENST00000342449.8_12
Gencode Gene: ENSG00000185658.14_14
Transcript (Including UTRs)
   Position: hg19 chr21:40,557,408-40,685,558 Size: 128,151 Total Exon Count: 41 Strand: -
Coding Region
   Position: hg19 chr21:40,568,185-40,685,417 Size: 117,233 Coding Exon Count: 41 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:40,557,408-40,685,558)mRNA (may differ from genome)Protein (2269 aa)
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-  Comments and Description Text from UniProtKB
  ID: BRWD1_HUMAN
DESCRIPTION: RecName: Full=Bromodomain and WD repeat-containing protein 1; AltName: Full=WD repeat-containing protein 9;
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.
SUBUNIT: Interacts with SMARCA4 (By similarity).
SUBCELLULAR LOCATION: Cytoplasm. Nucleus (By similarity).
TISSUE SPECIFICITY: Ubiquitously expressed.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR (By similarity).
SIMILARITY: Contains 2 bromo domains.
SIMILARITY: Contains 8 WD repeats.
SEQUENCE CAUTION: Sequence=CAA10896.1; Type=Frameshift; Positions=1762, 1770;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BRWD1
Diseases sorted by gene-association score: down syndrome (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.03 RPKM in Testis
Total median expression: 236.77 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -79.20141-0.562 Picture PostScript Text
3' UTR -2618.5010777-0.243 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001487 - Bromodomain
IPR018359 - Bromodomain_CS
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat
PF00439 - Bromodomain

SCOP Domains:
47370 - Bromodomain
50952 - Soluble quinoprotein glucose dehydrogenase
50960 - TolB, C-terminal domain
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
117289 - Nucleoporin domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Peptidase/esterase 'gauge' domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - DPP6 N-terminal domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3Q2E - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9NSI6
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function

Biological Process:
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007010 cytoskeleton organization
GO:0008360 regulation of cell shape
GO:0038111 interleukin-7-mediated signaling pathway

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AJ292465 - Homo sapiens mRNA for WDR9 protein (WDR9 gene), form A.
AK125906 - Homo sapiens cDNA FLJ43918 fis, clone TESTI4011745, highly similar to WD-repeat protein 9.
AJ238214 - Homo sapiens mRNA originating from the Down syndrome chromosomal region-2 (21q22.3) encoding hypothetical protein.
AB080586 - Homo sapiens WDR9 mRNA for WD repeat protein, WDR9-form1, complete cds.
AB080587 - Homo sapiens WDR9 mRNA for WD repeat protein, WDR9-form2, complete cds.
AJ292466 - Homo sapiens mRNA for WDR9 protein (WDR9 gene), form B.
KJ898965 - Synthetic construct Homo sapiens clone ccsbBroadEn_08359 BRWD1 gene, encodes complete protein.
AB080588 - Homo sapiens WDR9 mRNA for WD repeat protein, WDR9-exon19-del, partial cds.
AB080589 - Homo sapiens WDR9 mRNA for WD repeat protein, WDR9-exon19-short, partial cds.
AB080592 - Homo sapiens WDR9 mRNA for WD repeat protein, WDR9-exon16-short, partial cds.
AB080593 - Homo sapiens WDR9 mRNA for WD repeat protein, WDR9-exon17-short, partial cds.
AB080591 - Homo sapiens WDR9 mRNA for WD repeat protein, WDR9-exon21-del, partial cds.
AJ238573 - Homo sapiens mRNA for partial 3'UTR, sequence 4.
AJ238556 - Homo sapiens mRNA for partial 3'UTR, sequence 3.
JD090406 - Sequence 71430 from Patent EP1572962.
JD305314 - Sequence 286338 from Patent EP1572962.
JD068280 - Sequence 49304 from Patent EP1572962.
JD428910 - Sequence 409934 from Patent EP1572962.
JD225702 - Sequence 206726 from Patent EP1572962.
JD315210 - Sequence 296234 from Patent EP1572962.
JD426070 - Sequence 407094 from Patent EP1572962.
JD224199 - Sequence 205223 from Patent EP1572962.
JD172047 - Sequence 153071 from Patent EP1572962.
JD448074 - Sequence 429098 from Patent EP1572962.
DQ571421 - Homo sapiens piRNA piR-31533, complete sequence.
AJ238555 - Homo sapiens mRNA for partial 3'UTR, sequence 2.
AJ002574 - Homo sapiens mRNA; transcriptional unit N144, 5' end.
AJ002572 - Homo sapiens mRNA; transcriptional unit N143.
JD493080 - Sequence 474104 from Patent EP1572962.
JD434095 - Sequence 415119 from Patent EP1572962.
JD280780 - Sequence 261804 from Patent EP1572962.
JD299163 - Sequence 280187 from Patent EP1572962.
JD346779 - Sequence 327803 from Patent EP1572962.
JD358626 - Sequence 339650 from Patent EP1572962.
JD225899 - Sequence 206923 from Patent EP1572962.
AK002177 - Homo sapiens cDNA FLJ11315 fis, clone PLACE1010148.
JD562855 - Sequence 543879 from Patent EP1572962.
JD093331 - Sequence 74355 from Patent EP1572962.
AJ222636 - Homo sapiens partial human cDNA (660 bp).
AB080590 - Homo sapiens WDR9 mRNA for WD repeat protein, WDR9-exon35-del, partial cds.
MK521584 - Homo sapiens mds21 miRNA, complete sequence.
BC064602 - Homo sapiens bromodomain and WD repeat domain containing 1, mRNA (cDNA clone IMAGE:5785347), complete cds.
BC142986 - Homo sapiens bromodomain and WD repeat domain containing 1, mRNA (cDNA clone IMAGE:8860432), complete cds.
LF385153 - JP 2014500723-A/192656: Polycomb-Associated Non-Coding RNAs.
BC140079 - Synthetic construct Homo sapiens clone IMAGE:100000979, MGC:167372 bromodomain and WD repeat domain containing 1 (BRWD1) mRNA, encodes complete protein.
JC506684 - Sequence 52 from Patent EP2733220.
JC737796 - Sequence 52 from Patent WO2014075939.
MA620730 - JP 2018138019-A/192656: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NSI6 (Reactome details) participates in the following event(s):

R-HSA-8865605 BRWD1 binds SMARCA4
R-HSA-8865613 BRWD1 binds AcK(9,14,18,79)-p(S10,T11)-histone H3
R-HSA-1266695 Interleukin-7 signaling
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-449147 Signaling by Interleukins
R-HSA-4839726 Chromatin organization
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: BRWD1_HUMAN, C21orf107, C9JK25, ENST00000342449.1, ENST00000342449.2, ENST00000342449.3, ENST00000342449.4, ENST00000342449.5, ENST00000342449.6, ENST00000342449.7, NM_033656, O43721, Q5R2V0, Q5R2V1, Q6P2D1, Q8TCV3, Q96QG9, Q96QH0, Q9NSI6, Q9NUK1, uc317wiu.1, uc317wiu.2, WDR9
UCSC ID: ENST00000342449.8_12
RefSeq Accession: NM_033656.4
Protein: Q9NSI6 (aka BRWD1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.