BAG1

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Description

The BAG1 (BAG cochaperone 1) is a protein-coding gene located on chromosome 9.

BAG family molecular chaperone regulator 1 is a protein that in humans is encoded by the BAG1 gene.

== Function == The oncogene BCL2 is a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The protein encoded by this gene binds to BCL2 and is referred to as BCL2-associated athanogene. It enhances the anti-apoptotic effects of BCL2 and represents a link between growth factor receptors and anti-apoptotic mechanisms. At least three protein isoforms are encoded by this mRNA through the use of alternative translation initiation sites, including a non-AUG site.

== Clinical significance == BAG gene has been implicated in age related neurodegenerative diseases as Alzheimer's. It has been demonstrated that BAG1 and BAG 3 regulate the proteasomal and lysosomal protein elimination pathways, respectively.

== Interactions == BAG1 has been shown to interact with:

== References ==

== External links == Human BAG1 genome location and BAG1 gene details page in the UCSC Genome Browser.

BAG1 is a co-chaperone that works with the HSP70 and HSC70 chaperone proteins. It acts as a nucleotide-exchange factor (NEF), promoting the release of ADP from these chaperones, which in turn triggers the release of client/substrate proteins. BAG1 binds to the nucleotide-binding domain (NBD) of HSPA8/HSC70 to mediate nucleotide release and to the substrate-binding domain (SBD) of HSPA8/HSC70 to mediate substrate release. It inhibits the pro-apoptotic function of PPP1R15A and has anti-apoptotic activity. BAG1 significantly enhances the anti-cell death function of BCL2 in response to various stimuli. BAG1 is involved in the STUB1-mediated proteasomal degradation of ESR1 in response to age-related circulating estradiol (17-beta-estradiol/E2) decline, which promotes neuronal apoptosis in response to ischemic reperfusion injury.

BAG1 is also known as BAG-1, HAP, RAP46.

Associated Diseases

• nail-patella syndrome
• hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
• alpha thalassemia-intellectual disability syndrome type 1
• delta-beta-thalassemia
• hemoglobin E-beta-thalassemia syndrome
• hemoglobin D disease
• hemolytic anemia due to adenylate kinase deficiency
• Heinz body anemia
• hemoglobin C-beta-thalassemia syndrome
• alpha-thalassemia-myelodysplastic syndrome