Biology:DNAJB6

From HandWiki
Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

DnaJ homolog subfamily B member 6 is a protein that in humans is encoded by the DNAJB6 gene.[1][2][3]

Function

This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described.[3]

Interactions

DNAJB6 has been shown to interact with keratin 18.[4] It has been also shown that the aggregation of Aβ42 (a process involved in e.g. Alzheimer's disease) is retarded by DNAJB6 in a concentration-dependent manner, extending to very low sub-stoichiometric molar ratios of chaperone to peptide.[5] Dominant mutations in DNAJB6 have also been found to cause a late-onset muscle disease termed limb-girdle muscular dystrophy type D1 (LGMDD1), which is characterized by protein aggregation and vacuolar myopathology.[6]

References

  1. "Cloning, tissue expression, and chromosomal assignment of human MRJ gene for a member of the DNAJ protein family". Journal of Human Genetics 44 (3): 185–9. June 1999. doi:10.1007/s100380050139. PMID 10319584. 
  2. "Pituitary tumor-transforming gene protein associates with ribosomal protein S10 and a novel human homologue of DnaJ in testicular cells". The Journal of Biological Chemistry 274 (5): 3151–8. January 1999. doi:10.1074/jbc.274.5.3151. PMID 9915854. 
  3. 3.0 3.1 "Entrez Gene: DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10049. 
  4. "Identification of Mrj, a DnaJ/Hsp40 family protein, as a keratin 8/18 filament regulatory protein". The Journal of Biological Chemistry 275 (44): 34521–7. November 2000. doi:10.1074/jbc.M003492200. PMID 10954706. 
  5. "Interaction of the molecular chaperone DNAJB6 with growing amyloid-beta 42 (Aβ42) aggregates leads to sub-stoichiometric inhibition of amyloid formation". The Journal of Biological Chemistry 289 (45): 31066–76. November 2014. doi:10.1074/jbc.M114.595124. PMID 25217638. 
  6. "Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy". The Journal of Clinical Investigation 130 (8): 4470–4485. August 2020. doi:10.1172/JCI136167. PMID 32427588. 

Further reading

External links