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    BAG3 BAG cochaperone 3 [ Homo sapiens (human) ]

    Gene ID: 9531, updated on 10-Dec-2024

    Summary

    Official Symbol
    BAG3provided by HGNC
    Official Full Name
    BAG cochaperone 3provided by HGNC
    Primary source
    HGNC:HGNC:939
    See related
    Ensembl:ENSG00000151929 MIM:603883; AllianceGenome:HGNC:939
    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
    BIS; MFM6; BAG-3; CAIR-1
    Summary
    BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in heart (RPKM 32.6), placenta (RPKM 26.6) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See BAG3 in Genome Data Viewer
    Location:
    10q26.11
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (119651380..119677819)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (120548963..120575488)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (121410892..121437331)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene RAD1 pseudogene 1 Neighboring gene MPRA-validated peak1112 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr10:121396416-121396639 Neighboring gene ribosomal protein S8 pseudogene 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:121410030-121410984 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:121425241-121425794 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:121427873-121428054 Neighboring gene uncharacterized LOC124902513 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:121443219-121443398 Neighboring gene thioredoxin pseudogene 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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2015-02-12)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2015-02-12)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat upregulates the levels of BAG3 in human glioblastoma cells, and BAG3 silencing results in highly reducing Tat-induced upregulation of LC3-II and increasing the appearance of sub G0/G1 apoptotic cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC104307

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables adenyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables adenyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cadherin binding HDA PubMed 
    enables dynein intermediate chain binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein carrier chaperone TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein-folding chaperone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein-folding chaperone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in aggresome assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to heat IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to unfolded protein IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in extrinsic apoptotic signaling pathway in absence of ligand IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within extrinsic apoptotic signaling pathway via death domain receptors IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in muscle cell cellular homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in muscle cell cellular homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of protein targeting to mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of striated muscle cell apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of striated muscle cell apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of aggrephagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein export from nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein import into nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein folding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein stabilization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of protein transport along microtubule TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in spinal cord development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in striated muscle cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Z disc IEA
    Inferred from Electronic Annotation
    more info
     
    located_in aggresome TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein folding chaperone complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    BAG family molecular chaperone regulator 3
    Names
    BCL2 associated athanogene 3
    BCL2-binding athanogene 3
    Bcl-2-binding protein BIS transcript 2
    bcl-2-binding protein Bis
    docking protein CAIR-1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_016125.1 RefSeqGene

      Range
      5001..31450
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_742

    mRNA and Protein(s)

    1. NM_004281.4NP_004272.2  BAG family molecular chaperone regulator 3

      See identical proteins and their annotated locations for NP_004272.2

      Status: REVIEWED

      Source sequence(s)
      AF071218, BC006418
      Consensus CDS
      CCDS7615.1
      UniProtKB/Swiss-Prot
      A8K5L8, O95817, Q3B763, Q9NT20, Q9P120
      UniProtKB/TrEMBL
      Q53GY1
      Related
      ENSP00000358081.4, ENST00000369085.8
      Conserved Domains (2) summary
      smart00456
      Location:2153
      WW; Domain with 2 conserved Trp (W) residues
      smart00264
      Location:421498
      BAG; BAG domains, present in regulator of Hsp70 proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      119651380..119677819
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270287.2XP_005270344.1  BAG family molecular chaperone regulator 3 isoform X1

      UniProtKB/TrEMBL
      Q53GY1
      Conserved Domains (2) summary
      smart00456
      Location:2153
      WW; Domain with 2 conserved Trp (W) residues
      smart00264
      Location:420497
      BAG; BAG domains, present in regulator of Hsp70 proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      120548963..120575488
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367219.1XP_054223194.1  BAG family molecular chaperone regulator 3 isoform X1

      UniProtKB/TrEMBL
      Q53GY1