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

Gene ID: 54014, updated on 13-Mar-2020

Summary

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
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; 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

Genomic context

See BRWD1 in Genome Data Viewer
Location:
21q22.2
Exon count:
47
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (39184176..39321595, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (40556102..40685745, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene poly(rC) binding protein 2 pseudogene 1 Neighboring gene proteasome assembly chaperone 1 Neighboring gene TIMM9 pseudogene 2 Neighboring gene methyltransferase like 21A pseudogene 1 Neighboring gene BRWD1 antisense RNA 2 Neighboring gene BRWD1 antisense RNA 1 Neighboring gene uncharacterized LOC105372804 Neighboring gene high mobility group nucleosome binding domain 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ43918

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
chromatin organization TAS
Traceable Author Statement
more info
 
cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
interleukin-7-mediated signaling pathway TAS
Traceable Author Statement
more info
 
regulation of cell shape IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cell shape IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus HDA PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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)

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_029919.2 RefSeqGene

    Range
    5155..133305
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001007246.2NP_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, BC064602, DA792365
    Consensus CDS
    CCDS33557.1
    UniProtKB/Swiss-Prot
    Q9NSI6
    Related
    ENSP00000342106.4, ENST00000341322.4
  2. NM_018963.5NP_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
    Q9NSI6
    Related
    ENSP00000330753.2, ENST00000333229.6
    Conserved Domains (5) summary
    cd05496
    Location:13131431
    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:11491264
    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:185540
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:178497
    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:189226
    7WD40; WD40 repeat [structural motif]
  3. NM_033656.4NP_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, ENST00000342449.7
    Conserved Domains (5) summary
    cd05496
    Location:13131431
    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:11491264
    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:185540
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:178497
    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:189226
    7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    39184176..39321595 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

    Conserved Domains (5) summary
    cd05529
    Location:11491264
    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:185540
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:178497
    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:189226
    7WD40; WD40 repeat [structural motif]
    cl02556
    Location:13011383
    Bromodomain; Bromodomain. Bromodomains are found in many chromatin-associated proteins and in nuclear histone acetyltransferases. They interact specifically with acetylated lysine.
  3. XM_011529612.2XP_011527914.1  bromodomain and WD repeat-containing protein 1 isoform X3

    Conserved Domains (5) summary
    cd05496
    Location:10331151
    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:869984
    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:5260
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:4386
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:5263
    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_011529613.1XP_011527915.1  bromodomain and WD repeat-containing protein 1 isoform X4

    Conserved Domains (2) summary
    cd05496
    Location:324442
    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:160275
    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_017028374.1XP_016883863.1  bromodomain and WD repeat-containing protein 1 isoform X4

    Conserved Domains (2) summary
    cd05496
    Location:324442
    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:160275
    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 ...
  6. XM_017028375.1XP_016883864.1  bromodomain and WD repeat-containing protein 1 isoform X5

RNA

  1. XR_001754864.1 RNA Sequence

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