Human Gene BAG3 (ENST00000369085.8) from GENCODE V44
  Description: Homo sapiens BAG cochaperone 3 (BAG3), mRNA. (from RefSeq NM_004281)
RefSeq Summary (NM_004281): 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].
Gencode Transcript: ENST00000369085.8
Gencode Gene: ENSG00000151929.10
Transcript (Including UTRs)
   Position: hg38 chr10:119,651,380-119,677,819 Size: 26,440 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg38 chr10:119,651,676-119,677,282 Size: 25,607 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:119,651,380-119,677,819)mRNA (may differ from genome)Protein (575 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BAG3_HUMAN
DESCRIPTION: RecName: Full=BAG family molecular chaperone regulator 3; Short=BAG-3; AltName: Full=Bcl-2-associated athanogene 3; AltName: Full=Bcl-2-binding protein Bis; AltName: Full=Docking protein CAIR-1;
FUNCTION: Inhibits the chaperone activity of HSP70/HSC70 by promoting substrate release. Has anti-apoptotic activity.
SUBUNIT: Binds to the ATPase domain of HSP/HSC70 chaperones. Binds to Bcl-2 and PLC-gamma. Interacts with DNAJB6.
DISEASE: Defects in BAG3 are the cause of myopathy myofibrillar type 6 (MFM6) [MIM:612954]. A neuromuscular disorder that results in early-onset, severe, progressive, diffuse muscle weakness associated with cardiomyopathy, severe respiratory insufficiency during adolescence, and a rigid spine in some patients. At ultrastructural level, muscle fibers display structural alterations consisting of replacement of the normal myofibrillar markings by small, dense granules, or larger hyaline masses, or amorphous material.
DISEASE: Defects in BAG3 are the cause of cardiomyopathy dilated type 1HH (CMD1HH) [MIM:613881]. CMD1HH is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
SIMILARITY: Contains 1 BAG domain.
SIMILARITY: Contains 2 WW domains.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BAG3ID43160ch10q26.html";

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BAG3
Diseases sorted by gene-association score: myopathy, myofibrillar, 6* (1685), cardiomyopathy, dilated, 1hh* (1230), bag3-related dilated cardiomyopathy* (500), dilated cardiomyopathy* (111), familial isolated dilated cardiomyopathy* (69), myofibrillar myopathy (12), eyelid neoplasm (7), giant axonal neuropathy (6), myopathy, spheroid body (5), myopathy (4), cardiomyopathy (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 167.93 RPKM in Muscle - Skeletal
Total median expression: 1562.25 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -116.50296-0.394 Picture PostScript Text
3' UTR -127.50537-0.237 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003103 - BAG_domain
IPR001202 - WW_Rsp5_WWP

Pfam Domains:
PF02179 - BAG domain
PF00397 - WW domain

ModBase Predicted Comparative 3D Structure on O95817
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000774 adenyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0044877 macromolecular complex binding
GO:0045296 cadherin binding
GO:0051087 chaperone binding

Biological Process:
GO:0006457 protein folding
GO:0006915 apoptotic process
GO:0007420 brain development
GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors
GO:0010664 negative regulation of striated muscle cell apoptotic process
GO:0021510 spinal cord development
GO:0034605 cellular response to heat
GO:0042307 positive regulation of protein import into nucleus
GO:0043066 negative regulation of apoptotic process
GO:0046827 positive regulation of protein export from nucleus
GO:0050790 regulation of catalytic activity
GO:0050821 protein stabilization
GO:0071260 cellular response to mechanical stimulus
GO:0097192 extrinsic apoptotic signaling pathway in absence of ligand
GO:0097201 negative regulation of transcription from RNA polymerase II promoter in response to stress
GO:1900034 regulation of cellular response to heat
GO:1903215 negative regulation of protein targeting to mitochondrion

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0030018 Z disc
GO:0043005 neuron projection


-  Descriptions from all associated GenBank mRNAs
  LF207932 - JP 2014500723-A/15435: Polycomb-Associated Non-Coding RNAs.
MA443509 - JP 2018138019-A/15435: Polycomb-Associated Non-Coding RNAs.
AF071218 - Homo sapiens docking protein CAIR-1 mRNA, complete cds.
AF095193 - Homo sapiens BAG-family molecular chaperone regulator-3 mRNA, complete cds.
JB982103 - Sequence 18 from Patent WO2013189775.
AK222800 - Homo sapiens mRNA for BCL2-associated athanogene 3 variant, clone: HEP03825.
BC006418 - Homo sapiens BCL2-associated athanogene 3, mRNA (cDNA clone MGC:12641 IMAGE:3635446), complete cds.
AF127139 - Homo sapiens Bcl-2-binding protein BIS (BIS) mRNA, complete cds.
AK313026 - Homo sapiens cDNA, FLJ93496.
AL137582 - Homo sapiens mRNA; cDNA DKFZp434E0610 (from clone DKFZp434E0610); partial cds.
BC107786 - Homo sapiens BCL2-associated athanogene 3, mRNA (cDNA clone MGC:104307 IMAGE:6655146), complete cds.
AK291333 - Homo sapiens cDNA FLJ75690 complete cds, highly similar to Homo sapiens BCL2-associated athanogene 3 (BAG3), mRNA.
BC014656 - Homo sapiens BCL2-associated athanogene 3, mRNA (cDNA clone MGC:20407 IMAGE:4636684), complete cds.
DQ896772 - Synthetic construct Homo sapiens clone IMAGE:100011232; FLH199403.01L; RZPDo839E0581D BCL2-associated athanogene 3 (BAG3) gene, encodes complete protein.
DQ893416 - Synthetic construct clone IMAGE:100006046; FLH199497.01X; RZPDo839E0582D BCL2-associated athanogene 3 (BAG3) gene, encodes complete protein.
CU675397 - Synthetic construct Homo sapiens gateway clone IMAGE:100019899 5' read BAG3 mRNA.
KJ906000 - Synthetic construct Homo sapiens clone ccsbBroadEn_15670 BAG3 gene, encodes complete protein.
AB385565 - Synthetic construct DNA, clone: pF1KB9402, Homo sapiens BAG3 gene for BAG family molecular chaperone regulator 3, complete cds, without stop codon, in Flexi system.
JD464557 - Sequence 445581 from Patent EP1572962.
JD125857 - Sequence 106881 from Patent EP1572962.
JD042033 - Sequence 23057 from Patent EP1572962.
JD321895 - Sequence 302919 from Patent EP1572962.
JD403677 - Sequence 384701 from Patent EP1572962.
JD460805 - Sequence 441829 from Patent EP1572962.
JD365760 - Sequence 346784 from Patent EP1572962.
JD462632 - Sequence 443656 from Patent EP1572962.
JD331165 - Sequence 312189 from Patent EP1572962.
JD141582 - Sequence 122606 from Patent EP1572962.
JD095094 - Sequence 76118 from Patent EP1572962.
JD211261 - Sequence 192285 from Patent EP1572962.
LF370098 - JP 2014500723-A/177601: Polycomb-Associated Non-Coding RNAs.
MA605675 - JP 2018138019-A/177601: Polycomb-Associated Non-Coding RNAs.
LF370099 - JP 2014500723-A/177602: Polycomb-Associated Non-Coding RNAs.
MA605676 - JP 2018138019-A/177602: Polycomb-Associated Non-Coding RNAs.
MP083704 - Sequence 1 from Patent EP3337518.
JD260962 - Sequence 241986 from Patent EP1572962.
JD166158 - Sequence 147182 from Patent EP1572962.
LF370100 - JP 2014500723-A/177603: Polycomb-Associated Non-Coding RNAs.
MA605677 - JP 2018138019-A/177603: Polycomb-Associated Non-Coding RNAs.
JD562975 - Sequence 543999 from Patent EP1572962.
LF370101 - JP 2014500723-A/177604: Polycomb-Associated Non-Coding RNAs.
MA605678 - JP 2018138019-A/177604: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O95817 (Reactome details) participates in the following event(s):

R-HSA-5252079 HSP110s exchange ATP for ADP on HSP70s:ADP
R-HSA-3371453 Regulation of HSF1-mediated heat shock response
R-HSA-3371556 Cellular response to heat stress
R-HSA-2262752 Cellular responses to stress
R-HSA-8953897 Cellular responses to external stimuli

-  Other Names for This Gene
  Alternate Gene Symbols: A8K5L8, BAG3_HUMAN, BIS, ENST00000369085.1, ENST00000369085.2, ENST00000369085.3, ENST00000369085.4, ENST00000369085.5, ENST00000369085.6, ENST00000369085.7, NM_004281, O95817, Q3B763, Q9NT20, Q9P120, uc001lem.1, uc001lem.2, uc001lem.3, uc001lem.4, uc001lem.5
UCSC ID: ENST00000369085.8
RefSeq Accession: NM_004281
Protein: O95817 (aka BAG3_HUMAN)
CCDS: CCDS7615.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene BAG3:
dcm-ov (Dilated Cardiomyopathy Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.