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    BRPF1 bromodomain and PHD finger containing 1 [ Homo sapiens (human) ]

    Gene ID: 7862, updated on 17-Jun-2019

    Summary

    Official Symbol
    BRPF1provided by HGNC
    Official Full Name
    bromodomain and PHD finger containing 1provided by HGNC
    Primary source
    HGNC:HGNC:14255
    See related
    Ensembl:ENSG00000156983 MIM:602410
    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
    BR140; IDDDFP
    Summary
    This gene encodes a bromodomain, PHD finger and chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing protein. The encoded protein is a component of the MOZ/MORF histone acetyltransferase complexes which function as a transcriptional regulators. This protein binds to the catalytic MYST domains of the MOZ and MORF proteins and may play a role in stimulating acetyltransferase and transcriptional activity of the complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
    Expression
    Ubiquitous expression in testis (RPKM 10.0), bone marrow (RPKM 8.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See BRPF1 in Genome Data Viewer
    Location:
    3p25.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (9731729..9748015)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (9773413..9789699)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene myotubularin related protein 14 Neighboring gene copine family member 9 Neighboring gene 8-oxoguanine DNA glycosylase Neighboring gene calcium/calmodulin dependent protein kinase I Neighboring gene ARPC4-TTLL3 readthrough Neighboring gene transcriptional adaptor 3 Neighboring gene actin related protein 2/3 complex subunit 4

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat upregulates bromodomain and PHD finger-containing protein 1 (BRPF1) in HEK 293T 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...
    • 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to histone acetyltransferase activity (H3-K23 specific) IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    histone H3 acetylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone H3-K23 acetylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of signal transduction by p53 class mediator TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    MOZ/MORF histone acetyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    peregrin
    Names
    bromodomain-containing protein, 140kD

    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_052955.1 RefSeqGene

      Range
      5022..21287
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001003694.2NP_001003694.1  peregrin isoform 1

      See identical proteins and their annotated locations for NP_001003694.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AI356310, AK293865, BC053851
      Consensus CDS
      CCDS33692.1
      UniProtKB/Swiss-Prot
      P55201
      Related
      ENSP00000373340.2, ENST00000383829.6
      Conserved Domains (6) summary
      cd05839
      Location:10891204
      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:632735
      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. ...
      cd15676
      Location:267328
      PHD_BRPF1; PHD finger found in bromodomain and PHD finger-containing protein 1 (BRPF1) and similar proteins
      cd15701
      Location:330450
      ePHD_BRPF1; Extended PHD finger found in bromodomain and PHD finger-containing protein 1 (BRPF1) and similar proteins
      pfam10513
      Location:106255
      EPL1; Enhancer of polycomb-like
      cl10717
      Location:1552
      CactinC_cactus; Cactus-binding C-terminus of cactin protein
    2. NM_001319049.1NP_001305978.1  peregrin isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site and lacks an exon compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC022382, AK293865, BC068262
      Consensus CDS
      CCDS82729.1
      UniProtKB/Swiss-Prot
      P55201
      Related
      ENSP00000402485.2, ENST00000433861.6
      Conserved Domains (6) summary
      cd05839
      Location:9881103
      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:632729
      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. ...
      cd15676
      Location:267328
      PHD_BRPF1; PHD finger found in bromodomain and PHD finger-containing protein 1 (BRPF1) and similar proteins
      cd15701
      Location:330450
      ePHD_BRPF1; Extended PHD finger found in bromodomain and PHD finger-containing protein 1 (BRPF1) and similar proteins
      pfam10513
      Location:106255
      EPL1; Enhancer of polycomb-like
      cl10717
      Location:1552
      CactinC_cactus; Cactus-binding C-terminus of cactin protein
    3. NM_001319050.1NP_001305979.1  peregrin isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses two alternate splice sites compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AC022382, AL713696, BC068262
      Consensus CDS
      CCDS82730.1
      UniProtKB/Swiss-Prot
      P55201
      Related
      ENSP00000398863.1, ENST00000424362.5
      Conserved Domains (6) summary
      cd05839
      Location:10821197
      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:632729
      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. ...
      cd15676
      Location:267328
      PHD_BRPF1; PHD finger found in bromodomain and PHD finger-containing protein 1 (BRPF1) and similar proteins
      cd15701
      Location:330450
      ePHD_BRPF1; Extended PHD finger found in bromodomain and PHD finger-containing protein 1 (BRPF1) and similar proteins
      pfam10513
      Location:106255
      EPL1; Enhancer of polycomb-like
      cl10717
      Location:1552
      CactinC_cactus; Cactus-binding C-terminus of cactin protein
    4. NM_004634.2NP_004625.2  peregrin isoform 2

      See identical proteins and their annotated locations for NP_004625.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment in the coding region, as compared to variant 1. The encoded isoform 2 is thus shorter than isoform 1.
      Source sequence(s)
      AI356310, BC036374, BC053851
      Consensus CDS
      CCDS2575.1
      UniProtKB/Swiss-Prot
      P55201
      Related
      ENSP00000410210.1, ENST00000457855.1
      Conserved Domains (6) summary
      cd05839
      Location:10831198
      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:632729
      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. ...
      cd15676
      Location:267328
      PHD_BRPF1; PHD finger found in bromodomain and PHD finger-containing protein 1 (BRPF1) and similar proteins
      cd15701
      Location:330450
      ePHD_BRPF1; Extended PHD finger found in bromodomain and PHD finger-containing protein 1 (BRPF1) and similar proteins
      pfam10513
      Location:106255
      EPL1; Enhancer of polycomb-like
      cl10717
      Location:1552
      CactinC_cactus; Cactus-binding C-terminus of cactin protein

    RNA

    1. NR_160918.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC022382

    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_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      9731729..9748015
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453741.1XP_024309509.1  peregrin isoform X1

      Conserved Domains (5) summary
      cd05839
      Location:11231238
      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:632735
      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. ...
      COG5189
      Location:2052
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      cd15701
      Location:330450
      ePHD_BRPF1; Extended PHD finger found in bromodomain and PHD finger-containing protein 1 (BRPF1) and similar proteins
      cl26518
      Location:174657
      EPL1; Enhancer of polycomb-like
    2. XM_024453744.1XP_024309512.1  peregrin isoform X6

      Conserved Domains (5) summary
      cd05839
      Location:10281143
      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:632735
      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. ...
      COG5189
      Location:2052
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      cd15701
      Location:330450
      ePHD_BRPF1; Extended PHD finger found in bromodomain and PHD finger-containing protein 1 (BRPF1) and similar proteins
      cl26518
      Location:174657
      EPL1; Enhancer of polycomb-like
    3. XM_024453743.1XP_024309511.1  peregrin isoform X2

      Conserved Domains (5) summary
      cd05839
      Location:11221237
      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:632735
      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. ...
      COG5189
      Location:2052
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      cd15701
      Location:330450
      ePHD_BRPF1; Extended PHD finger found in bromodomain and PHD finger-containing protein 1 (BRPF1) and similar proteins
      cl26518
      Location:174657
      EPL1; Enhancer of polycomb-like
    4. XM_005265450.1XP_005265507.1  peregrin isoform X5

      See identical proteins and their annotated locations for XP_005265507.1

      Conserved Domains (6) summary
      cd05839
      Location:10881203
      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:632735
      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. ...
      cd15676
      Location:267328
      PHD_BRPF1; PHD finger found in bromodomain and PHD finger-containing protein 1 (BRPF1) and similar proteins
      cd15701
      Location:330450
      ePHD_BRPF1; Extended PHD finger found in bromodomain and PHD finger-containing protein 1 (BRPF1) and similar proteins
      pfam10513
      Location:106255
      EPL1; Enhancer of polycomb-like
      cl10717
      Location:1552
      CactinC_cactus; Cactus-binding C-terminus of cactin protein
    5. XM_011534101.1XP_011532403.1  peregrin isoform X3

      See identical proteins and their annotated locations for XP_011532403.1

      Conserved Domains (6) summary
      cd05839
      Location:11171232
      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:632729
      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. ...
      cd15676
      Location:267328
      PHD_BRPF1; PHD finger found in bromodomain and PHD finger-containing protein 1 (BRPF1) and similar proteins
      cd15701
      Location:330450
      ePHD_BRPF1; Extended PHD finger found in bromodomain and PHD finger-containing protein 1 (BRPF1) and similar proteins
      pfam10513
      Location:106255
      EPL1; Enhancer of polycomb-like
      cl10717
      Location:1552
      CactinC_cactus; Cactus-binding C-terminus of cactin protein
    6. XM_005265449.1XP_005265506.1  peregrin isoform X4

      See identical proteins and their annotated locations for XP_005265506.1

      Conserved Domains (6) summary
      cd05839
      Location:11161231
      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:632729
      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. ...
      cd15676
      Location:267328
      PHD_BRPF1; PHD finger found in bromodomain and PHD finger-containing protein 1 (BRPF1) and similar proteins
      cd15701
      Location:330450
      ePHD_BRPF1; Extended PHD finger found in bromodomain and PHD finger-containing protein 1 (BRPF1) and similar proteins
      pfam10513
      Location:106255
      EPL1; Enhancer of polycomb-like
      cl10717
      Location:1552
      CactinC_cactus; Cactus-binding C-terminus of cactin protein
    7. XM_024453742.1XP_024309510.1  peregrin isoform X1

      Conserved Domains (5) summary
      cd05839
      Location:11231238
      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:632735
      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. ...
      COG5189
      Location:2052
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      cd15701
      Location:330450
      ePHD_BRPF1; Extended PHD finger found in bromodomain and PHD finger-containing protein 1 (BRPF1) and similar proteins
      cl26518
      Location:174657
      EPL1; Enhancer of polycomb-like

    RNA

    1. XR_001740257.1 RNA Sequence

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