Human Gene BRWD3 (ENST00000373275.5_7) from GENCODE V47lift37
  Description: bromodomain and WD repeat domain containing 3 (from RefSeq NM_153252.5)
Gencode Transcript: ENST00000373275.5_7
Gencode Gene: ENSG00000165288.11_9
Transcript (Including UTRs)
   Position: hg19 chrX:79,925,002-80,065,376 Size: 140,375 Total Exon Count: 41 Strand: -
Coding Region
   Position: hg19 chrX:79,932,108-80,064,970 Size: 132,863 Coding Exon Count: 41 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:79,925,002-80,065,376)mRNA (may differ from genome)Protein (1802 aa)
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-  Comments and Description Text from UniProtKB
  ID: BRWD3_HUMAN
DESCRIPTION: RecName: Full=Bromodomain and WD repeat-containing protein 3;
FUNCTION: Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.
TISSUE SPECIFICITY: Found in most adult tissues. Down-regulated in a majority of the B-CLL cases examined.
DEVELOPMENTAL STAGE: Expressed in fetal liver.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE: Note=A chromosomal aberration involving BRWD3 can be found in patients with B-cell chronic lymphocytic leukemia (B- CLL). Translocation t(X;11)(q21;q23) with ARHGAP20 does not result in fusion transcripts but disrupts both genes.
DISEASE: Defects in BRWD3 are the cause of mental retardation X- linked type 93 (MRX93) [MIM:300659]; also known as mental retardation X-linked with macrocephaly. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Mentally retarded individuals are at least twice as likely to have macrocephaly than are their intellectually normal peers.
SIMILARITY: Contains 2 bromo domains.
SIMILARITY: Contains 9 WD repeats.
CAUTION: The translocation involving this gene was originally published as t(X;11)(q13;23) (PubMed:15543602), but BRWD3 is localized to Xq21 and not to Xq13.
SEQUENCE CAUTION: Sequence=BAC04641.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BRWD3ID42978chXq21.html";

-  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: BRWD3
Diseases sorted by gene-association score: chronic lymphocytic leukemia (8), x-linked nonsyndromic deafness (8), west syndrome (1)

-  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: 5.13 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 109.97 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -103.17406-0.254 Picture PostScript Text
3' UTR -1644.307106-0.231 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
IPR011044 - Quino_amine_DH_bsu
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
50956 - Thermostable phytase (3-phytase)
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

ModBase Predicted Comparative 3D Structure on Q6RI45
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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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 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007010 cytoskeleton organization
GO:0008360 regulation of cell shape

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  AY497047 - Homo sapiens bromodomain and WD repeat domain containing 3 variant BRWD3-B (BRWD3) mRNA, complete cds, alternatively spliced.
AY497056 - Homo sapiens bromodomain and WD repeat domain containing 3 variant BRWD3-L (BRWD3) mRNA, complete cds, alternatively spliced.
AY497057 - Homo sapiens bromodomain and WD repeat domain containing 3 variant BRWD3-M (BRWD3) mRNA, complete cds, alternatively spliced.
AY497058 - Homo sapiens bromodomain and WD repeat domain containing 3 variant BRWD3-N (BRWD3) mRNA, complete cds, alternatively spliced.
AY497059 - Homo sapiens bromodomain and WD repeat domain containing 3 variant BRWD3-O (BRWD3) mRNA, complete cds, alternatively spliced.
AY497060 - Homo sapiens bromodomain and WD repeat domain containing 3 variant BRWD3-P (BRWD3) mRNA, complete cds, alternatively spliced.
AY497046 - Homo sapiens bromodomain and WD repeat domain containing 3 variant BRWD3-A (BRWD3) mRNA, complete cds, alternatively spliced.
AY497048 - Homo sapiens bromodomain and WD repeat domain containing 3 variant BRWD3-C (BRWD3) mRNA, complete cds, alternatively spliced.
AY497049 - Homo sapiens bromodomain and WD repeat domain containing 3 variant BRWD3-D (BRWD3) mRNA, complete cds, alternatively spliced.
AY497050 - Homo sapiens bromodomain and WD repeat domain containing 3 variant BRWD3-E (BRWD3) mRNA, complete cds, alternatively spliced.
AY497051 - Homo sapiens bromodomain and WD repeat domain containing 3 variant BRWD3-F (BRWD3) mRNA, complete cds, alternatively spliced.
AY497052 - Homo sapiens bromodomain and WD repeat domain containing 3 variant BRWD3-G (BRWD3) mRNA, complete cds, alternatively spliced.
AY497053 - Homo sapiens bromodomain and WD repeat domain containing 3 variant BRWD3-H (BRWD3) mRNA, complete cds, alternatively spliced.
AY497054 - Homo sapiens bromodomain and WD repeat domain containing 3 variant BRWD3-I (BRWD3) mRNA, complete cds, alternatively spliced.
AY497055 - Homo sapiens bromodomain and WD repeat domain containing 3 variant BRWD3-K (BRWD3) mRNA, complete cds, alternatively spliced.
AK095887 - Homo sapiens cDNA FLJ38568 fis, clone HCHON2005987.
AK090573 - Homo sapiens cDNA FLJ33254 fis, clone ASTRO2005360.
BC039508 - Homo sapiens bromodomain and WD repeat domain containing 3, mRNA (cDNA clone IMAGE:5577400).
JD263263 - Sequence 244287 from Patent EP1572962.
JD511659 - Sequence 492683 from Patent EP1572962.
JD186247 - Sequence 167271 from Patent EP1572962.
JD304860 - Sequence 285884 from Patent EP1572962.
JD496351 - Sequence 477375 from Patent EP1572962.
JD170992 - Sequence 152016 from Patent EP1572962.
JD338274 - Sequence 319298 from Patent EP1572962.
JD455223 - Sequence 436247 from Patent EP1572962.
JD302373 - Sequence 283397 from Patent EP1572962.
JD360144 - Sequence 341168 from Patent EP1572962.
JD496613 - Sequence 477637 from Patent EP1572962.
JD066426 - Sequence 47450 from Patent EP1572962.
JD333975 - Sequence 314999 from Patent EP1572962.
JD205185 - Sequence 186209 from Patent EP1572962.
BC111490 - Homo sapiens bromodomain and WD repeat domain containing 3, mRNA (cDNA clone IMAGE:4343498), partial cds.
JD216032 - Sequence 197056 from Patent EP1572962.
JD343182 - Sequence 324206 from Patent EP1572962.
JD515322 - Sequence 496346 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BRWD3_HUMAN, C9IZ39, C9J3F3, ENST00000373275.1, ENST00000373275.2, ENST00000373275.3, ENST00000373275.4, NM_153252, Q2T9J6, Q5JRN1, Q6RI37, Q6RI42, Q6RI44, Q6RI45, Q8N916, uc318kqg.1, uc318kqg.2
UCSC ID: ENST00000373275.5_7
RefSeq Accession: NM_153252.5
Protein: Q6RI45 (aka BRWD3_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.