BRD1 Gene (Protein Coding)

Bromodomain Containing 1

GC22M049773
GIFtS:
42
This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schizophrenia and bipolar d... See more...

Aliases for BRD1 Gene

Aliases for BRD1 Gene

  • Bromodomain Containing 1 2 3 5
  • Bromodomain And PHD Finger-Containing Protein 2 3 4
  • Bromodomain-Containing Protein 1 3 4
  • BR140-Like Protein 3 4
  • BRPF2 3 4
  • BRL 3 4
  • Bromodomain-Containing 1 2
  • BR140-Like 2
  • BRPF1 3

External Ids for BRD1 Gene

Previous GeneCards Identifiers for BRD1 Gene

  • GC22M046756
  • GC22M048386
  • GC22M048487
  • GC22M048552
  • GC22M050166
  • GC22M033113

Summaries for BRD1 Gene

Entrez Gene Summary for BRD1 Gene

  • This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schizophrenia and bipolar disorder in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]

GeneCards Summary for BRD1 Gene

BRD1 (Bromodomain Containing 1) is a Protein Coding gene. Diseases associated with BRD1 include Nodular Prostate and Schizophrenia. Among its related pathways are Chromatin organization and Gene Expression. Gene Ontology (GO) annotations related to this gene include histone binding. An important paralog of this gene is BRPF3.

UniProtKB/Swiss-Prot Summary for BRD1 Gene

  • Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity.

Tocris Summary for BRD1 Gene

  • Bromodomains (BRDs) are epigenetic reader domains that selectively recognize acetylated lysine residues on the tails of histone proteins, and are the only known protein modules that can target acetylated lysine residues.

Additional gene information for BRD1 Gene

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BRD1 Gene

Genomics for BRD1 Gene

GeneHancer (GH) Regulatory Elements for BRD1 Gene

Promoters and enhancers for BRD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BRD1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BRD1

Top Transcription factor binding sites by QIAGEN in the BRD1 gene promoter:
  • GR
  • GR-alpha
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2C

Genomic Locations for BRD1 Gene

Genomic Locations for BRD1 Gene
chr22:49,773,278-49,827,548
(GRCh38/hg38)
Size:
54,271 bases
Orientation:
Minus strand
chr22:50,166,931-50,221,160
(GRCh37/hg19)
Size:
54,230 bases
Orientation:
Minus strand

Genomic View for BRD1 Gene

Genes around BRD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BRD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BRD1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for BRD1 Gene

Proteins for BRD1 Gene

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  • Protein details for BRD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95696-BRD1_HUMAN
    Recommended name:
    Bromodomain-containing protein 1
    Protein Accession:
    O95696
    Secondary Accessions:
    • A6ZJA4

    Protein attributes for BRD1 Gene

    Size:
    1058 amino acids
    Molecular mass:
    119520 Da
    Quaternary structure:
    • Component of the MOZ/MORF complex composed at least of ING5, KAT6A, KAT6B, MEAF6 and one of BRPF1, BRD1/BRPF2 and BRPF3. Interacts (via PHD-type zinc finger domain) with unmodified histone H3. Interacts (via PWWP domain) with dimethylated and trimethylated 'Lys-79' on histone H3.

    Three dimensional structures from OCA and Proteopedia for BRD1 Gene

    Alternative splice isoforms for BRD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BRD1 Gene

Protein Expression for BRD1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for BRD1 Gene

  • Ubiquitination at Lys368
  • Modification sites at PhosphoSitePlus

Other Protein References for BRD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BRD1 Gene

Domains & Families for BRD1 Gene

Gene Families for BRD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BRD1 Gene

Blocks:
  • Zn-finger-like, PHD finger
  • Bromodomain signature
  • PWWP domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BRD1 Gene

GenScript: Design optimal peptide antigens:
  • Bromodomain and PHD finger-containing protein 2 (BRD1_HUMAN)
  • Benzodiazepine receptor ligand (Q71U42_HUMAN)
  • BRD1 protein (Q86X06_HUMAN)
genes like me logo Genes that share domains with BRD1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BRD1 Gene

Function for BRD1 Gene

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Molecular function for BRD1 Gene

UniProtKB/Swiss-Prot Function:
Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity.

Phenotypes From GWAS Catalog for BRD1 Gene

Gene Ontology (GO) - Molecular Function for BRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042393 histone binding IDA 21880731
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with BRD1: view
genes like me logo Genes that share phenotypes with BRD1: view

Animal Models for BRD1 Gene

MGI Knock Outs for BRD1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BRD1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BRD1 Gene

Localization for BRD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BRD1 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BRD1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 10602503
GO:0016607 nuclear speck IDA --
GO:0030425 dendrite IEA --
GO:0043204 perikaryon IEA --
GO:0070776 MOZ/MORF histone acetyltransferase complex IDA 16387653
genes like me logo Genes that share ontologies with BRD1: view

Pathways & Interactions for BRD1 Gene

genes like me logo Genes that share pathways with BRD1: view

Pathways by source for BRD1 Gene

1 BioSystems pathway for BRD1 Gene

Gene Ontology (GO) - Biological Process for BRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0035902 response to immobilization stress IEA --
GO:0043966 histone H3 acetylation IDA 16387653
GO:0051602 response to electrical stimulus IEA --
genes like me logo Genes that share ontologies with BRD1: view

No data available for SIGNOR curated interactions for BRD1 Gene

Drugs & Compounds for BRD1 Gene

Products:

  1. Drug

(11) Drugs for BRD1 Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hexanoyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0
CPI-203 Pharma BET bromodomain inhibitor 0
I-BET151 (GSK1210151A) Pharma Selective BET inhibitor 0
I-BET-762 Pharma BET inhibitor,highly potent 0

(30) Additional Compounds for BRD1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
 10018-95-8
(2E)-Dodecenoyl-CoA
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
 4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
 10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
 38795-33-4

(9) ApexBio Compounds for BRD1 Gene

Compound Action Cas Number
CPI-203 BET bromodomain inhibitor 1446144-04-2
I-BET151 (GSK1210151A) Selective BET inhibitor 1300031-49-5
I-BET-762 BET inhibitor,highly potent 1260907-17-2
MS436 BRD4 inhibitor 1395084-25-9
OF-1 BRPF1B and BRPF2 bromodomain inhibitor 919973-83-4
PFI-1 (PF-6405761) BET inhibitor 1403764-72-6
RVX-208 Potent BET bromodomain inhibitor 1044870-39-4
UNC1215 Chemical probe for the methyllysine (Kme) 1415800-43-9
UNC669 L3MBTL antagonist,potent and selective 1314241-44-5
genes like me logo Genes that share compounds with BRD1: view

Drug Products

Transcripts for BRD1 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for BRD1 Gene

6 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BRD1

Alternative Splicing Database (ASD) splice patterns (SP) for BRD1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b
SP1: - - - - -
SP2: - - - -
SP3: - -
SP4: - - -
SP5:
SP6:

Relevant External Links for BRD1 Gene

GeneLoc Exon Structure for
BRD1

Expression for BRD1 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BRD1 Gene

mRNA expression in normal human tissues for BRD1 Gene
mRNA expression by GTEx for BRD1 GenemRNA expression by BioGPS for BRD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BRD1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (23.1), Platelet (17.8), and CD8 Tcells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BRD1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BRD1

SOURCE GeneReport for Unigene cluster for BRD1 Gene:

Hs.127950

mRNA Expression by UniProt/SwissProt for BRD1 Gene:

O95696-BRD1_HUMAN
Tissue specificity: Highly expressed in testis.

Evidence on tissue expression from TISSUES for BRD1 Gene

  • Nervous system(2.3)
genes like me logo Genes that share expression patterns with BRD1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BRD1 Gene

Orthologs for BRD1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BRD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia BRD1 31 30
  • 98.93 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia BRD1 31 30
  • 89.04 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Brd1 17 31 30
  • 88.56 (n)
rat
(Rattus norvegicus)
 Mammalia Brd1 30
  • 88.56 (n)
cow
(Bos Taurus)
 Mammalia BRD1 31 30
  • 85.49 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia BRD1 31
  • 80 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia BRD1 31
  • 77 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves BRD1 31 30
  • 75.33 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia BRD1 31
  • 74 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia brd1 30
  • 69.31 (n)
Str.2833 30
zebrafish
(Danio rerio)
 Actinopterygii brd1a 31 30
  • 62.35 (n)
 OneToMany
brd1b 31
  • 53 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta CG1845 32
  • 45 (a)
Br140 31
  • 31 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea lin-49 31 32
  • 21 (a)
 ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes NTO1 31
  • 26 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 37 (a)
 OneToMany
Species where no ortholog for BRD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BRD1 Gene

ENSEMBL:
Gene Tree for BRD1 (if available)
TreeFam:
Gene Tree for BRD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BRD1: view image

Paralogs for BRD1 Gene

Paralogs for BRD1 Gene

(9) SIMAP similar genes for BRD1 Gene using alignment to 6 proteins:

  • BRD1_HUMAN
  • B4E3L9_HUMAN
  • F5H6M9_HUMAN
  • J3KNX6_HUMAN
  • J3KQ61_HUMAN
  • Q86X06_HUMAN
genes like me logo Genes that share paralogs with BRD1: view

Variants for BRD1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BRD1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
710389 Benign: not provided 49,823,110(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
715753 Likely Benign: not provided 49,824,219(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
717985 Benign: not provided 49,797,837(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
718307 Likely Benign: not provided 49,798,690(-) G/A INTRON_VARIANT
719240 Likely Benign: not provided 49,823,077(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for BRD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for BRD1 Gene

Variant ID Type Subtype PubMed ID
dgv265n21 CNV loss 19592680
esv2724705 CNV deletion 23290073
esv2724707 CNV deletion 23290073
esv2724708 CNV deletion 23290073
esv3648071 CNV loss 21293372
esv3648072 CNV loss 21293372
nsv3667 CNV insertion 18451855
nsv829328 CNV gain 20364138
nsv834235 CNV loss 17160897
nsv955194 CNV deletion 24416366

Variation tolerance for BRD1 Gene

Residual Variation Intolerance Score: 1.93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.75; 66.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BRD1 Gene

Human Gene Mutation Database (HGMD)
BRD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BRD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BRD1 Gene

Disorders for BRD1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for BRD1 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search BRD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BRD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BRD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BRD1 Gene

Publications for BRD1 Gene

  1. Association study of bromodomain-containing 1 gene with schizophrenia in Japanese population. (PMID: 19908236) Kushima I … Ozaki N (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 23 41 54
  2. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4 54
  3. The cloning, mapping and expression of a novel gene, BRL, related to the AF10 leukaemia gene. (PMID: 10602503) McCullagh P … Young BD (Oncogene 1999) 2 3 4 54
  4. Histone recognition and large-scale structural analysis of the human bromodomain family. (PMID: 22464331) Filippakopoulos P … Knapp S (Cell 2012) 3 4 54
  5. Recognition of unmodified histone H3 by the first PHD finger of bromodomain-PHD finger protein 2 provides insights into the regulation of histone acetyltransferases monocytic leukemic zinc-finger protein (MOZ) and MOZ-related factor (MORF). (PMID: 21880731) Qin S … Shi Y (The Journal of biological chemistry 2011) 3 4 54

ExternalLinks

View latest publications for BRD1 gene in Mastermind

Products for BRD1 Gene

  • Addgene plasmids for BRD1

Sources for BRD1 Gene