BAG3
entrez
9531
canonical
uniprot
O95817
canonical
ensembl
ENSG00000151929
resolver
ensp
ENSP00000358081
resolver
ensp
ENSP00000560036
resolver
ensp
ENSP00000560037
resolver
enst
ENST00000369085
resolver
enst
ENST00000889977
resolver
genesymbol
BAG3
resolver
genesymbol_syn
BIS
resolver
hgnc
HGNC:939
resolver
uniprot
A8K5L8
resolver
uniprot
Q3B763
resolver
uniprot
Q9NT20
resolver
uniprot
Q9P120
resolver
uniprot_entry
BAG3_HUMAN
resolver
uniprot_sec
A8K5L8
resolver
uniprot_sec
Q3B763
resolver
uniprot_sec
Q9NT20
resolver
uniprot_sec
Q9P120
resolver
amino_acid_sequence
MSAATHSPMMQVASGNGDRDPLPPGWEIKIDPQTGWPFFVDHNSRTTTWNDPRVPSEGPKETPSSANGPSREGSRLPPAREGHPVYPQLRPGYIPIPVLHEGAENRQVHPFHVYPQPGMQRFRTEAAAAAPQRSQSPLRGMPETTQPDKQCGQVAAAAAAQPPASHGPERSQSPAASDCSSSSSSASLPSSGRSSLGSHQLPRGYISIPVIHEQNVTRPAAQPSFHQAQKTHYPAQQGEYQTHQPVYHKIQGDDWEPRPLRAASPFRSSVQGASSREGSPARSSTPLHSPSPIRVHTVVDRPQQPMTHRETAPVSQPENKPESKPGPVGPELPPGHIPIQVIRKEVDSKPVSQKPPPPSEKVEVKVPPAPVPCPPPSPGPSAVPSSPKSVATEERAAPSTAPAEATPPKPGEAEAPPKHPGVLKVEAILEKVQGLEQAVDNFEGKKTDKKYLMIEEYLTKELLALDSVDPEGRADVRQARRDGVRKVQTILEKLEQKAIDVPGQVQVYELQPSNLEADQPLQAIMEMGAVAADKGKKNAGNAEDPHTETQQPEATAAATSNPSSMTDTPGNPAAP
uniprot
proteins
disease_involvement
DISEASE: Myopathy, myofibrillar, 6 (MFM6) [MIM:612954]: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM6 is characterized by early-onset of severe, progressive, diffuse muscle weakness associated with cardiomyopathy, severe respiratory insufficiency during adolescence, and a rigid spine in some patients. {ECO:0000269|PubMed:19085932, ECO:0000269|PubMed:20605452, ECO:0000269|PubMed:21361913, ECO:0000269|PubMed:21898660, ECO:0000269|PubMed:22734908, ECO:0000269|PubMed:25208129, ECO:0000269|PubMed:30559338, ECO:0000269|PubMed:32859500}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, dilated, 1HH (CMD1HH) [MIM:613881]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:21353195, ECO:0000269|PubMed:21459883, ECO:0000269|PubMed:21898660}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neuronopathy, distal hereditary motor, autosomal dominant 15 (HMND15) [MIM:621094]: A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. Weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMND15 is an adult-onset, autosomal dominant form with incomplete penetrance. HMND15 affected individuals exhibit a slowly progressive and symmetric distal weakness and atrophy of lower limb muscles, along with absent Achille reflexes. Sensory deficits are not present. {ECO:0000269|PubMed:37907725}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease, axonal, type 2JJ (CMT2JJ) [MIM:621095]: An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2JJ is characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs. {ECO:0000269|PubMed:28754666, ECO:0000269|PubMed:31853710}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Co-chaperone and adapter protein that connects different classes of molecular chaperones including heat shock proteins 70 (HSP70s), e.g. HSPA1A/HSP70 or HSPA8/HSC70, and small heat shock proteins (sHSPs), e.g. HSPB8 (PubMed:27884606, PubMed:30559338). Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from HSP70s, thereby triggering client protein release (PubMed:27884606, PubMed:30559338). Nucleotide release is mediated via BAG3 binding to the nucleotide-binding domain (NBD) of HSP70s, whereas client release is mediated via binding to the substrate-binding domain (SBD) (PubMed:27474739, PubMed:9873016). Has anti-apoptotic activity (PubMed:10597216). Plays a role in the HSF1 nucleocytoplasmic transport (PubMed:26159920). {ECO:0000269|PubMed:10597216, ECO:0000269|PubMed:24318877, ECO:0000269|PubMed:26159920, ECO:0000269|PubMed:27474739, ECO:0000269|PubMed:27884606, ECO:0000269|PubMed:30559338, ECO:0000269|PubMed:9873016}.
uniprot
proteins
mass_dalton
61595
uniprot
proteins
mutagenesis
MUTAGEN 480..481; /note="RR->AA: Significant loss of interaction with HSPA8."; /evidence="ECO:0000269|PubMed:27474739
uniprot
proteins
pubmed
10597216
uniprot
proteins
pubmed
10980614
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19085932
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20060297
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20605452
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21353195
uniprot
proteins
pubmed
21361913
uniprot
proteins
pubmed
21459883
uniprot
proteins
pubmed
21898660
uniprot
proteins
pubmed
22366786
uniprot
proteins
pubmed
22734908
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23434281
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24318877
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
25208129
uniprot
proteins
pubmed
26159920
uniprot
proteins
pubmed
27474739
uniprot
proteins
pubmed
27884606
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28144995
uniprot
proteins
pubmed
28754666
uniprot
proteins
pubmed
30559338
uniprot
proteins
pubmed
31853710
uniprot
proteins
pubmed
32859500
uniprot
proteins
pubmed
37907725
uniprot
proteins
pubmed
9873016
uniprot
proteins
sequence_length
575
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26159920}. Cytoplasm {ECO:0000269|PubMed:26159920}. Note=Colocalizes with HSF1 to the nucleus upon heat stress (PubMed:26159920). {ECO:0000269|PubMed:26159920}.
uniprot
proteins