DNAJB6

DnaJ homolog subfamily B member 6 is a protein that in humans is encoded by the DNAJB6 gene.

DNAJB6
Identifiers
Aliases	DNAJB6, Dnajb6, Mrj, mDj4, DJ4, DnaJ, HHDJ1, HSJ-2, HSJ2, LGMD1D, LGMD1E, MSJ-1, DnaJ heat shock protein family (Hsp40) member B6, LGMDD1
External IDs	OMIM: 611332; MGI: 1344381; HomoloGene: 38058; GeneCards: DNAJB6; OMA:DNAJB6 - orthologs
Gene location (Human) Chr. Chromosome 7 (human) Band 7q36.3 Start 157,335,381 bp End 157,417,439 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5|5 B1 Start 29,940,686 bp End 30,023,132 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad ganglionic eminence gastrocnemius muscle skin of abdomen muscle of thigh skin of leg C1 segment popliteal artery tibial arteries ventricular zone Top expressed in zygote spermatocyte spermatid morula neural layer of retina primary visual cortex superior frontal gyrus dentate gyrus of hippocampal formation granule cell seminiferous tubule muscle of thigh More reference expression data BioGPS More reference expression data
Gene ontology Molecular function chaperone binding heat shock protein binding unfolded protein binding protein binding ATPase activator activity identical protein binding DNA binding Cellular component cytoplasm cytosol membrane nucleoplasm Z discdkac perinuclear region of cytoplasm nucleus Biological process intermediate filament organization negative regulation of cysteine-type endopeptidase activity involved in apoptotic process negative regulation of inclusion body assembly regulation of protein localization protein folding regulation of cellular response to heat positive regulation of ATP-dependent activity actin cytoskeleton organization extracellular matrix organization protein localization to nucleus negative regulation of transcription, DNA-templated chorio-allantoic fusion syncytiotrophoblast cell differentiation involved in labyrinthine layer development chorion development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10049 23950 Ensembl ENSG00000105993 ENSMUSG00000029131 UniProt O75190 O54946 RefSeq (mRNA) NM_005494 NM_058246 NM_001363676 NM_001037940 NM_001037941 NM_001127367 NM_011847 NM_001359198 NM_001378835 RefSeq (protein) NP_005485 NP_490647 NP_001350605 NP_001033029 NP_001033030 NP_001120839 NP_035977 NP_001346127 NP_001365764 Location (UCSC) Chr 7: 157.34 – 157.42 Mb Chr 5: 29.94 – 30.02 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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.

Interactions

DNAJB6 has been shown to interact with keratin 18. 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. 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.

Further reading

• Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Izawa I, Nishizawa M, Ohtakara K, Ohtsuka K, Inada H, Inagaki M (November 2000). "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. doi:10.1074/jbc.M003492200. PMID 10954706.
• Hartley JL, Temple GF, Brasch MA (November 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
• Ohtsuka K, Hata M (April 2000). "Mammalian HSP40/DNAJ homologs: cloning of novel cDNAs and a proposal for their classification and nomenclature". Cell Stress & Chaperones. 5 (2): 98–112. doi:10.1379/1466-1268(2000)005<0098:mhdhco>2.0.co;2 (inactive 1 November 2024). PMC 312896. PMID 11147971.{{cite journal}}: CS1 maint: DOI inactive as of November 2024 (link)
• Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (March 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
• Chuang JZ, Zhou H, Zhu M, Li SH, Li XJ, Sung CH (May 2002). "Characterization of a brain-enriched chaperone, MRJ, that inhibits Huntingtin aggregation and toxicity independently". The Journal of Biological Chemistry. 277 (22): 19831–8. doi:10.1074/jbc.M109613200. PMID 11896048.
• Farinha CM, Nogueira P, Mendes F, Penque D, Amaral MD (September 2002). "The human DnaJ homologue (Hdj)-1/heat-shock protein (Hsp) 40 co-chaperone is required for the in vivo stabilization of the cystic fibrosis transmembrane conductance regulator by Hsp70". The Biochemical Journal. 366 (Pt 3): 797–806. doi:10.1042/BJ20011717. PMC 1222832. PMID 12069690.
• Hanai R, Mashima K (September 2003). "Characterization of two isoforms of a human DnaJ homologue, HSJ2". Molecular Biology Reports. 30 (3): 149–53. doi:10.1023/A:1024916223616. PMID 12974469. S2CID 24105834.
• Liu Y, Zhu MC, Wang YJ, Zhan Z, Liu CG (November 2003). "[Cloning of a DnaJ homolog chaperon PBP and its subcellular localization]". Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi = Chinese Journal of Cellular and Molecular Immunology. 19 (6): 531–4. PMID 15182641.
• Berruti G, Martegani E (January 2005). "The deubiquitinating enzyme mUBPy interacts with the sperm-specific molecular chaperone MSJ-1: the relation with the proteasome, acrosome, and centrosome in mouse male germ cells". Biology of Reproduction. 72 (1): 14–21. doi:10.1095/biolreprod.104.030866. PMID 15342353.
• Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (October 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
• Dai YS, Xu J, Molkentin JD (November 2005). "The DnaJ-related factor Mrj interacts with nuclear factor of activated T cells c3 and mediates transcriptional repression through class II histone deacetylase recruitment". Molecular and Cellular Biology. 25 (22): 9936–48. doi:10.1128/MCB.25.22.9936-9948.2005. PMC 1280278. PMID 16260608.
• Linse S, Thalberg K, Knowles TP (2021). "The unhappy chaperone". QRB Discovery. 2. Cambridge University Press: e7. doi:10.1017/qrd.2021.5. PMC 10392682. PMID 37529680.

External links

• DNAJB6 human gene location in the UCSC Genome Browser.
• DNAJB6 human gene details in the UCSC Genome Browser.