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

Gene ID: 9530, updated on 9-Dec-2018

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 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (38176588..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 
adenyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
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_001204878.1NP_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, ENST00000287322.4
    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.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    38176588..38213301
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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