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BRWD3 bromodomain and WD repeat domain containing 3 [ Homo sapiens (human) ]

Gene ID: 254065, updated on 8-May-2016
Official Symbol
BRWD3provided by HGNC
Official Full Name
bromodomain and WD repeat domain containing 3provided by HGNC
Primary source
HGNC:HGNC:17342
See related
Ensembl:ENSG00000165288 HPRD:06564; MIM:300553; Vega:OTTHUMG00000021908
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
BRODL; MRX93
Summary
The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene cause mental retardation X-linked type 93, which is also referred to as mental retardation X-linked with macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, May 2010]
Orthologs
Location:
Xq21.1
Exon count:
42
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (80669488..80809734, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (79924987..80065233, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene WW domain binding protein 11 pseudogene Neighboring gene hexokinase 2 pseudogene 1 Neighboring gene proteasome subunit alpha 1 pseudogene Neighboring gene uncharacterized LOC105373283 Neighboring gene voltage dependent anion channel 1 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Mental retardation, X-linked 93
MedGen: C1970841 OMIM: 300659 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-04-25)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2012-04-25)

ClinGen Genome Curation PagePubMed
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ33254, FLJ38568

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell shape IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription from RNA polymerase II promoter IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
bromodomain and WD repeat-containing protein 3
Names
bromo domain-containing protein disrupted in leukemia
novel WD repeat domain protein

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_021349.1 RefSeqGene

    Range
    5001..145247
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_153252.4NP_694984.4  bromodomain and WD repeat-containing protein 3

    See identical proteins and their annotated locations for NP_694984.4

    Status: REVIEWED

    Source sequence(s)
    AA716141, AL512504, AY497046, BC111490
    Consensus CDS
    CCDS14447.1
    UniProtKB/Swiss-Prot
    Q6RI45
    Related
    ENSP00000362372, OTTHUMP00000023606, ENST00000373275, OTTHUMT00000057344
    Conserved Domains (4) summary
    cd05529
    Location:11301242
    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:175540
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:172494
    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 ...
    cl02556
    Location:13011442
    Bromodomain; Bromodomain. Bromodomains are found in many chromatin-associated proteins and in nuclear histone acetyltransferases. They interact specifically with acetylated lysine.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

    Range
    80669488..80809734 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262113.2XP_005262170.1  

    Conserved Domains (4) summary
    cd05529
    Location:10801192
    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:175540
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:172494
    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 ...
    cl02556
    Location:12511392
    Bromodomain; Bromodomain. Bromodomains are found in many chromatin-associated proteins and in nuclear histone acetyltransferases. They interact specifically with acetylated lysine.
  2. XM_011530904.1XP_011529206.1  

    UniProtKB/Swiss-Prot
    Q6RI45
    Conserved Domains (4) summary
    cd05529
    Location:726838
    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:22136
    WD40; WD40 repeat [General function prediction only]
    cl02556
    Location:8971038
    Bromodomain; Bromodomain. Bromodomains are found in many chromatin-associated proteins and in nuclear histone acetyltransferases. They interact specifically with acetylated lysine.
    cl02567
    Location:22133
    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 ...
  3. XM_011530903.1XP_011529205.1  

    UniProtKB/Swiss-Prot
    Q6RI45
    Conserved Domains (4) summary
    cd05529
    Location:9591071
    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:4369
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:1323
    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 ...
    cl02556
    Location:11301271
    Bromodomain; Bromodomain. Bromodomains are found in many chromatin-associated proteins and in nuclear histone acetyltransferases. They interact specifically with acetylated lysine.

RNA

  1. XR_430519.2 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    79818407..79958670 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)