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BRD1 bromodomain containing 1 [ Homo sapiens (human) ]

Gene ID: 23774, updated on 17-Jun-2019

Summary

Official Symbol
BRD1provided by HGNC
Official Full Name
bromodomain containing 1provided by HGNC
Primary source
HGNC:HGNC:1102
See related
Ensembl:ENSG00000100425 MIM:604589
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
BRL; BRPF1; BRPF2
Summary
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]
Expression
Broad expression in testis (RPKM 11.6), bone marrow (RPKM 4.4) and 25 other tissues See more
Orthologs

Genomic context

See BRD1 in Genome Data Viewer
Location:
22q13.33
Exon count:
19
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (49773278..49827873, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (50166931..50221196, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 252 Neighboring gene ribosomal protein L5 pseudogene 35 Neighboring gene suppressor of cytokine signaling 2 pseudogene Neighboring gene uncharacterized LOC105377205 Neighboring gene atherin-like Neighboring gene zinc finger BED-type containing 4 Neighboring gene ALG12 alpha-1,6-mannosyltransferase

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A comprehensive family-based replication study of schizophrenia genes.
NHGRI GWA Catalog
Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster.
NHGRI GWA Catalog
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of bromodomain containing 1 (BRD1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
    Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
  • Chromatin organization, organism-specific biosystem (from REACTOME)
    Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • HATs acetylate histones, organism-specific biosystem (from REACTOME)
    HATs acetylate histones, organism-specific biosystemHistone acetyltransferases (HATs) involved in histone modifications are referred to as A-type or nuclear HATs. They can be grouped into at least four families based on sequence conservation within th...
  • Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystem (from WikiPathways)
    Pathways Affected in Adenoid Cystic Carcinoma, organism-specific biosystemProtein pathways altered by mutations in adenoid cystic carcinoma. Pathways include epigentic modification, DNA damage checkpoint signals, MYB/MYC signalling pathway, FGF/IGF/PI3K signalling, and not...
  • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
  • Regulation of TP53 Activity through Acetylation, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Activity through Acetylation, organism-specific biosystemTranscriptional activity of TP53 is positively regulated by acetylation of several of its lysine residues. BRD7 binds TP53 and promotes acetylation of TP53 lysine residue K382 by acetyltransferase EP...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686F0325

Gene Ontology Provided by GOA

Function Evidence Code Pubs
histone binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
histone H3 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
response to electrical stimulus IEA
Inferred from Electronic Annotation
more info
 
response to immobilization stress IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
MOZ/MORF histone acetyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 
dendrite IEA
Inferred from Electronic Annotation
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
PubMed 
perikaryon IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
bromodomain-containing protein 1
Names
BR140-like protein
bromodomain and PHD finger-containing protein 2

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.

mRNA and Protein(s)

  1. NM_001304808.3NP_001291737.1  bromodomain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001291737.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) rencodes the longest isoform (1).
    Source sequence(s)
    AK292428, Z98885
    Consensus CDS
    CCDS77686.1
    UniProtKB/Swiss-Prot
    O95696
    UniProtKB/TrEMBL
    A0A024R4V5
    Related
    ENSP00000385858.1, ENST00000404760.5
    Conserved Domains (5) summary
    cd05839
    Location:10581173
    BR140_related; The PWWP domain is found in the BR140 family, which includes peregrin and BR140-like proteins 1 and 2. BR140 is the only family to contain the PWWP domain at the C terminus, with PHD and bromo domains in the N-terminal region. In myeloid leukemias, ...
    cd05512
    Location:566663
    Bromo_brd1_like; Bromodomain; brd1_like subfamily. BRD1 is a mammalian gene which encodes for a nuclear protein assumed to be a transcriptional regulator. BRD1 has been implicated with brain development and susceptibility to schizophrenia and bipolar affective disorder. ...
    cd15677
    Location:214267
    PHD_BRPF2; PHD finger found in bromodomain and PHD finger-containing protein 2 (BRPF2) and similar proteins
    cd15702
    Location:271388
    ePHD_BRPF2; Extended PHD finger found in bromodomain and PHD finger-containing protein 2 (BRPF2) and similar proteins
    pfam10513
    Location:47196
    EPL1; Enhancer of polycomb-like
  2. NM_001304809.1NP_001291738.1  bromodomain-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001291738.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes isoform (2) which is shorter than isoform 1.
    Source sequence(s)
    AA969405, AB209216, CR456408
    Consensus CDS
    CCDS14080.1
    UniProtKB/Swiss-Prot
    O95696
    UniProtKB/TrEMBL
    A0A024R4W4, Q59G93
    Related
    ENSP00000384076.1, ENST00000404034.5
    Conserved Domains (5) summary
    cd05839
    Location:9271042
    BR140_related; The PWWP domain is found in the BR140 family, which includes peregrin and BR140-like proteins 1 and 2. BR140 is the only family to contain the PWWP domain at the C terminus, with PHD and bromo domains in the N-terminal region. In myeloid leukemias, ...
    cd05512
    Location:566663
    Bromo_brd1_like; Bromodomain; brd1_like subfamily. BRD1 is a mammalian gene which encodes for a nuclear protein assumed to be a transcriptional regulator. BRD1 has been implicated with brain development and susceptibility to schizophrenia and bipolar affective disorder. ...
    cd15677
    Location:214267
    PHD_BRPF2; PHD finger found in bromodomain and PHD finger-containing protein 2 (BRPF2) and similar proteins
    cd15702
    Location:271388
    ePHD_BRPF2; Extended PHD finger found in bromodomain and PHD finger-containing protein 2 (BRPF2) and similar proteins
    pfam10513
    Location:47196
    EPL1; Enhancer of polycomb-like
  3. NM_001349940.1NP_001336869.1  bromodomain-containing protein 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes isoform 3.
    Source sequence(s)
    AK302736, Z98885
    Conserved Domains (5) summary
    cd05839
    Location:9761091
    BR140_related; The PWWP domain is found in the BR140 family, which includes peregrin and BR140-like proteins 1 and 2. BR140 is the only family to contain the PWWP domain at the C terminus, with PHD and bromo domains in the N-terminal region. In myeloid leukemias, ...
    cd05512
    Location:620712
    Bromo_brd1_like; Bromodomain; brd1_like subfamily. BRD1 is a mammalian gene which encodes for a nuclear protein assumed to be a transcriptional regulator. BRD1 has been implicated with brain development and susceptibility to schizophrenia and bipolar affective disorder. ...
    cd15702
    Location:271388
    ePHD_BRPF2; Extended PHD finger found in bromodomain and PHD finger-containing protein 2 (BRPF2) and similar proteins
    pfam10513
    Location:47196
    EPL1; Enhancer of polycomb-like
    cl26518
    Location:139392
    EPL1; Enhancer of polycomb-like
  4. NM_001349941.1NP_001336870.1  bromodomain-containing protein 1 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes isoform 4.
    Source sequence(s)
    Z98885
    Conserved Domains (5) summary
    cd05839
    Location:10531168
    BR140_related; The PWWP domain is found in the BR140 family, which includes peregrin and BR140-like proteins 1 and 2. BR140 is the only family to contain the PWWP domain at the C terminus, with PHD and bromo domains in the N-terminal region. In myeloid leukemias, ...
    cd05512
    Location:566658
    Bromo_brd1_like; Bromodomain; brd1_like subfamily. BRD1 is a mammalian gene which encodes for a nuclear protein assumed to be a transcriptional regulator. BRD1 has been implicated with brain development and susceptibility to schizophrenia and bipolar affective disorder. ...
    cd15702
    Location:271388
    ePHD_BRPF2; Extended PHD finger found in bromodomain and PHD finger-containing protein 2 (BRPF2) and similar proteins
    pfam10513
    Location:47196
    EPL1; Enhancer of polycomb-like
    cl26518
    Location:139606
    EPL1; Enhancer of polycomb-like
  5. NM_001349942.1NP_001336871.1  bromodomain-containing protein 1 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) encodes isoform 5.
    Source sequence(s)
    Z98885
    Conserved Domains (2) summary
    cd05839
    Location:544659
    BR140_related; The PWWP domain is found in the BR140 family, which includes peregrin and BR140-like proteins 1 and 2. BR140 is the only family to contain the PWWP domain at the C terminus, with PHD and bromo domains in the N-terminal region. In myeloid leukemias, ...
    cd05512
    Location:52149
    Bromo_brd1_like; Bromodomain; brd1_like subfamily. BRD1 is a mammalian gene which encodes for a nuclear protein assumed to be a transcriptional regulator. BRD1 has been implicated with brain development and susceptibility to schizophrenia and bipolar affective disorder. ...

RNA

  1. NR_146334.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK304776, Z98885
  2. NR_146335.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK304330, Z98885

RefSeqs of Annotated Genomes: Homo sapiens 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_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    49773278..49827873 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028716.1XP_016884205.1  bromodomain-containing protein 1 isoform X2

    UniProtKB/Swiss-Prot
    O95696
    UniProtKB/TrEMBL
    A0A024R4V5
    Conserved Domains (5) summary
    cd05839
    Location:10581173
    BR140_related; The PWWP domain is found in the BR140 family, which includes peregrin and BR140-like proteins 1 and 2. BR140 is the only family to contain the PWWP domain at the C terminus, with PHD and bromo domains in the N-terminal region. In myeloid leukemias, ...
    cd05512
    Location:566663
    Bromo_brd1_like; Bromodomain; brd1_like subfamily. BRD1 is a mammalian gene which encodes for a nuclear protein assumed to be a transcriptional regulator. BRD1 has been implicated with brain development and susceptibility to schizophrenia and bipolar affective disorder. ...
    cd15677
    Location:214267
    PHD_BRPF2; PHD finger found in bromodomain and PHD finger-containing protein 2 (BRPF2) and similar proteins
    cd15702
    Location:271388
    ePHD_BRPF2; Extended PHD finger found in bromodomain and PHD finger-containing protein 2 (BRPF2) and similar proteins
    pfam10513
    Location:47196
    EPL1; Enhancer of polycomb-like
  2. XM_017028715.1XP_016884204.1  bromodomain-containing protein 1 isoform X2

    UniProtKB/Swiss-Prot
    O95696
    UniProtKB/TrEMBL
    A0A024R4V5
    Conserved Domains (5) summary
    cd05839
    Location:10581173
    BR140_related; The PWWP domain is found in the BR140 family, which includes peregrin and BR140-like proteins 1 and 2. BR140 is the only family to contain the PWWP domain at the C terminus, with PHD and bromo domains in the N-terminal region. In myeloid leukemias, ...
    cd05512
    Location:566663
    Bromo_brd1_like; Bromodomain; brd1_like subfamily. BRD1 is a mammalian gene which encodes for a nuclear protein assumed to be a transcriptional regulator. BRD1 has been implicated with brain development and susceptibility to schizophrenia and bipolar affective disorder. ...
    cd15677
    Location:214267
    PHD_BRPF2; PHD finger found in bromodomain and PHD finger-containing protein 2 (BRPF2) and similar proteins
    cd15702
    Location:271388
    ePHD_BRPF2; Extended PHD finger found in bromodomain and PHD finger-containing protein 2 (BRPF2) and similar proteins
    pfam10513
    Location:47196
    EPL1; Enhancer of polycomb-like
  3. XM_017028714.1XP_016884203.1  bromodomain-containing protein 1 isoform X1

  4. XM_017028718.1XP_016884207.1  bromodomain-containing protein 1 isoform X3

  5. XM_017028722.2XP_016884211.1  bromodomain-containing protein 1 isoform X6

  6. XM_017028721.1XP_016884210.1  bromodomain-containing protein 1 isoform X5

  7. XM_017028719.1XP_016884208.1  bromodomain-containing protein 1 isoform X4

RNA

  1. XR_244360.1 RNA Sequence

  2. XR_002958681.1 RNA Sequence

  3. XR_002958680.1 RNA Sequence

  4. XR_001755192.1 RNA Sequence

  5. XR_001755194.1 RNA Sequence

  6. XR_001755193.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_014577.1: Suppressed sequence

    Description
    NM_014577.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
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