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BAG3 BCL2 associated athanogene 3 [ Homo sapiens (human) ]

Gene ID: 9531, updated on 8-Jul-2018
Official Symbol
BAG3provided by HGNC
Official Full Name
BCL2 associated athanogene 3provided by HGNC
Primary source
HGNC:HGNC:939
See related
Ensembl:ENSG00000151929 MIM:603883; Vega:OTTHUMG00000019155
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
See BAG3 in Genome Data Viewer
Location:
10q26.11
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (119651370..119677819)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (121410859..121437331)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene RAD1 pseudogene 1 Neighboring gene ribosomal protein S8 pseudogene 4 Neighboring gene thioredoxin pseudogene 1 Neighboring gene inositol polyphosphate-5-phosphatase F Neighboring gene RNA, 7SL, cytoplasmic 846, pseudogene

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

NHGRI GWAS Catalog

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

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

  • Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
    Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...
  • 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...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC104307

Gene Ontology Provided by GOA

Function Evidence Code Pubs
adenyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
adenyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
cadherin binding HDA PubMed 
chaperone binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
brain development IEA
Inferred from Electronic Annotation
more info
 
cellular response to heat IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
extrinsic apoptotic signaling pathway in absence of ligand IEA
Inferred from Electronic Annotation
more info
 
extrinsic apoptotic signaling pathway via death domain receptors IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of protein targeting to mitochondrion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of striated muscle cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter in response to stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein export from nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein import into nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein folding NAS
Non-traceable Author Statement
more info
PubMed 
protein stabilization IEA
Inferred from Electronic Annotation
more info
 
regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
regulation of cellular response to heat TAS
Traceable Author Statement
more info
 
spinal cord development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Z disc IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
Preferred Names
BAG family molecular chaperone regulator 3
Names
BCL2-binding athanogene 3
bcl-2-binding protein Bis
docking protein CAIR-1

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_004281.3NP_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
    O95817
    Related
    ENSP00000358081.3, OTTHUMP00000020599, ENST00000369085.7, OTTHUMT00000050662
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    119651370..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

    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
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