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    BAG4 BCL2 associated athanogene 4 [ Homo sapiens (human) ]

    Gene ID: 9530, updated on 17-Jun-2019

    Summary

    Official Symbol
    BAG4provided by HGNC
    Official Full Name
    BCL2 associated athanogene 4provided by HGNC
    Primary source
    HGNC:HGNC:940
    See related
    Ensembl:ENSG00000156735 MIM:603884
    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
    SODD; BAG-4
    Summary
    The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be associated with the death domain of tumor necrosis factor receptor type 1 (TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates downstream cell death signaling. The regulatory role of this protein in cell death was demonstrated in epithelial cells which undergo apoptosis while integrin mediated matrix contacts are lost. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]
    Expression
    Ubiquitous expression in brain (RPKM 11.2), bone marrow (RPKM 7.7) and 25 other tissues See more
    Orthologs

    Genomic context

    See BAG4 in Genome Data Viewer
    Location:
    8p11.23
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (38176855..38213301)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (38034106..38070819)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379382 Neighboring gene RNA, U6 small nuclear 323, pseudogene Neighboring gene LSM1 homolog, mRNA degradation associated Neighboring gene DDHD domain containing 2 Neighboring gene phospholipid phosphatase 5 Neighboring gene nuclear receptor binding SET domain protein 3 Neighboring gene NUP98-NSD3 recombination region

    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?

    Pathways from BioSystems

    • Cellular response to heat stress, organism-specific biosystem (from REACTOME)
      Cellular response to heat stress, organism-specific biosystemIn response to exposure to elevated temperature and certain other proteotoxic stimuli (e.g., hypoxia, free radicals) cells activate a number of cytoprotective mechanisms known collectively as "heat s...
    • Cellular responses to stress, organism-specific biosystem (from REACTOME)
      Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
    • Ceramide signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      Ceramide signaling pathway, organism-specific biosystem
      Ceramide signaling pathway
    • Death Receptor Signalling, organism-specific biosystem (from REACTOME)
      Death Receptor Signalling, organism-specific biosystemThe death receptors, all cell-surface receptors, begin the process of caspase activation. The common feature of these type 1 transmembrane proteins is the "death-domain" a conserved cytoplasmic motif...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
      Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
    • FGFR1 mutant receptor activation, organism-specific biosystem (from REACTOME)
      FGFR1 mutant receptor activation, organism-specific biosystemThe FGFR1 gene has been shown to be subject to activating mutations, chromosomal rearrangements and gene amplification leading to a variety of proliferative and developmental disorders depending on w...
    • HIV-1 Nef: Negative effector of Fas and TNF-alpha, organism-specific biosystem (from Pathway Interaction Database)
      HIV-1 Nef: Negative effector of Fas and TNF-alpha, organism-specific biosystem
      HIV-1 Nef: Negative effector of Fas and TNF-alpha
    • Regulation of HSF1-mediated heat shock response, organism-specific biosystem (from REACTOME)
      Regulation of HSF1-mediated heat shock response, organism-specific biosystemThe ability of HSF1 to respond to cellular stresses is under negative regulation by chaperones, modulation of nucleocytoplasmic shuttling, post-translational modifications and transition from monomer...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by FGFR in disease, organism-specific biosystem (from REACTOME)
      Signaling by FGFR in disease, organism-specific biosystemA number of skeletal and developmental diseases have been shown to arise as a result of mutations in the FGFR1, 2 and 3 genes. These include dwarfism syndromes (achondroplasia, hypochondroplasia and...
    • Signaling by FGFR1 in disease, organism-specific biosystem (from REACTOME)
      Signaling by FGFR1 in disease, organism-specific biosystemThe FGFR1 gene has been shown to be subject to activating mutations, chromosomal rearrangements and gene amplification leading to a variety of proliferative and developmental disorders depending on w...
    • Signaling by plasma membrane FGFR1 fusions, organism-specific biosystem (from REACTOME)
      Signaling by plasma membrane FGFR1 fusions, organism-specific biosystemIn addition to the cytosolic FGFR1 fusions identified in 8 myeloproliferative syndrome, plasma membrane localized FGFR1 fusions have been identified in glioblastoma, breast cancer and non small cell ...
    • TNF receptor signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      TNF receptor signaling pathway, organism-specific biosystem
      TNF receptor signaling pathway
    • TNF signaling, organism-specific biosystem (from REACTOME)
      TNF signaling, organism-specific biosystemThe inflammatory cytokine tumor necrosis factor alpha (TNF-alpha) is expressed in immune and nonimmune cell types including macrophages, T cells, mast cells, granulocytes, natural killer (NK) cells, ...
    • TNF signaling pathway, organism-specific biosystem (from KEGG)
      TNF signaling pathway, organism-specific biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
    • TNF signaling pathway, conserved biosystem (from KEGG)
      TNF signaling pathway, conserved biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp586O2022

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding HDA PubMed 
    chaperone binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to epidermal growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to tumor necrosis factor IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of protein targeting to mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of actin filament polymerization IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of fibroblast migration IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of peptidyl-serine phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein kinase B signaling IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of stress fiber assembly IEA
    Inferred from Electronic Annotation
    more info
     
    protein folding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein localization to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cellular response to heat TAS
    Traceable Author Statement
    more info
     
    ruffle assembly IEA
    Inferred from Electronic Annotation
    more info
     
    tumor necrosis factor-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    BAG family molecular chaperone regulator 4
    Names
    bcl-2-associated athanogene 4
    silencer of death domains

    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_001204878.2NP_001191807.1  BAG family molecular chaperone regulator 4 isoform 2

      See identical proteins and their annotated locations for NP_001191807.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AC084024, BC000800, BM683128
      Consensus CDS
      CCDS56533.1
      UniProtKB/Swiss-Prot
      O95429
      Related
      ENSP00000393298.2, ENST00000432471.6
      Conserved Domains (2) summary
      smart00264
      Location:343420
      BAG; BAG domains, present in regulator of Hsp70 proteins
      pfam15822
      Location:80231
      MISS; MAPK-interacting and spindle-stabilizing protein-like
    2. NM_004874.4NP_004865.1  BAG family molecular chaperone regulator 4 isoform 1

      See identical proteins and their annotated locations for NP_004865.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC084024, AF095194, BM683128
      Consensus CDS
      CCDS6104.1
      UniProtKB/Swiss-Prot
      O95429
      Related
      ENSP00000287322.4, ENST00000287322.5
      Conserved Domains (1) summary
      smart00264
      Location:379456
      BAG; BAG domains, present in regulator of Hsp70 proteins

    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_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      38176855..38213301
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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