BAG3 BAG cochaperone 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BAG3provided by HGNC
Official Full Name: BAG cochaperone 3provided by HGNC
Primary source: HGNC:HGNC:939
See related: Ensembl:ENSG00000151929 MIM:603883; AllianceGenome:HGNC:939
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: mouse all
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Genomic context

Location:: 10q26.11

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (119651380..119677819)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (120548963..120575488)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (121410892..121437331)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Role of BAG3 Protein Interactions in Cardiomyopathies.
Title: The Role of BAG3 Protein Interactions in Cardiomyopathies.
Universal Adapter Protein Bag3 and Small Heat Shock Proteins.
Title: Universal Adapter Protein Bag3 and Small Heat Shock Proteins.
CaMKII suppresses proteotoxicity by phosphorylating BAG3 in response to proteasomal dysfunction.
Title: CaMKII suppresses proteotoxicity by phosphorylating BAG3 in response to proteasomal dysfunction.
Functional analysis of a common BAG3 allele associated with protection from heart failure.
Title: Functional analysis of a common BAG3 allele associated with protection from heart failure.
Acetylation-dependent deubiquitinase USP26 stabilizes BAG3 to promote breast cancer progression.
Title: Acetylation-dependent deubiquitinase USP26 stabilizes BAG3 to promote breast cancer progression.
BAG3 regulates the specificity of the recognition of specific MAPT species by NBR1 and SQSTM1.
Title: BAG3 regulates the specificity of the recognition of specific MAPT species by NBR1 and SQSTM1.
Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.
Title: Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.
Dysregulated Autophagy and Sarcomere Dysfunction in Patients With Heart Failure With Co-Occurrence of P63A and P380S BAG3 Variants.
Title: Dysregulated Autophagy and Sarcomere Dysfunction in Patients With Heart Failure With Co-Occurrence of P63A and P380S BAG3 Variants.
BAG3: Nature's Quintessential Multi-Functional Protein Functions as a Ubiquitous Intra-Cellular Glue.
Title: BAG3: Nature's Quintessential Multi-Functional Protein Functions as a Ubiquitous Intra-Cellular Glue.
MiR-135a-5p suppresses breast cancer cell proliferation, migration, and invasion by regulating BAG3.
Title: MiR-135a-5p suppresses breast cancer cell proliferation, migration, and invasion by regulating BAG3.

Submit: New GeneRIF Correction See all GeneRIFs (202)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Dilated cardiomyopathy 1HH MedGen: C3151293 OMIM: 613881 GeneReviews: Dilated Cardiomyopathy Overview	Compare labs
Myofibrillar myopathy 6 MedGen: C2751831 OMIM: 612954 GeneReviews: Not available	Compare labs
Primary dilated cardiomyopathy MedGen: C0007193 GeneReviews: Dilated Cardiomyopathy Overview	Compare labs

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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Bda24g05 (e-PCR)
- UniSTS:77079

D10S2397 (e-PCR)
- UniSTS:45414

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables adenyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables adenyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
enables cadherin binding	HDA more info	PubMed
enables dynein intermediate chain binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein carrier chaperone	TAS Traceable Author Statement more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables protein-folding chaperone binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein-folding chaperone binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in aggresome assembly	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to heat	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to unfolded protein	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in extrinsic apoptotic signaling pathway in absence of ligand	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within extrinsic apoptotic signaling pathway via death domain receptors	IDA Inferred from Direct Assay more info	PubMed
involved_in muscle cell cellular homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in muscle cell cellular homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of protein targeting to mitochondrion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of striated muscle cell apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of striated muscle cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of aggrephagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein export from nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein import into nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein folding	NAS Non-traceable Author Statement more info	PubMed
involved_in protein stabilization	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of protein transport along microtubule	TAS Traceable Author Statement more info	PubMed
involved_in spinal cord development	IEA Inferred from Electronic Annotation more info
involved_in striated muscle cell apoptotic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Z disc	IEA Inferred from Electronic Annotation more info
located_in aggresome	TAS Traceable Author Statement more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein folding chaperone complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: BAG family molecular chaperone regulator 3

Names: BCL2 associated athanogene 3; BCL2-binding athanogene 3; Bcl-2-binding protein BIS transcript 2; bcl-2-binding protein Bis; docking protein CAIR-1

NCBI Reference Sequences (RefSeq)

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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

NG_016125.1 RefSeqGene

Range

5001..31450

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_742

mRNA and Protein(s)

NM_004281.4 → NP_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

A8K5L8, O95817, Q3B763, Q9NT20, Q9P120

UniProtKB/TrEMBL

Q53GY1

Related

ENSP00000358081.4, ENST00000369085.8

Conserved Domains (2) summary

smart00456
Location:21 → 53

WW; Domain with 2 conserved Trp (W) residues

smart00264
Location:421 → 498

BAG; BAG domains, present in regulator of Hsp70 proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

119651380..119677819

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005270287.2 → XP_005270344.1 BAG family molecular chaperone regulator 3 isoform X1

UniProtKB/TrEMBL

Q53GY1

Conserved Domains (2) summary

smart00456
Location:21 → 53

WW; Domain with 2 conserved Trp (W) residues

smart00264
Location:420 → 497

BAG; BAG domains, present in regulator of Hsp70 proteins