DNAJB6

Last updated

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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005494
NM_058246
NM_001363676

RefSeq (protein)

NP_005485
NP_490647
NP_001350605

Location (UCSC) Chr 7: 157.34 – 157.42 Mb Chr 5: 29.94 – 30.02 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Contents

[5] [6] [7]

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. [7]

Interactions

DNAJB6 has been shown to interact with keratin 18. [8] 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. [9] 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. [10]

Related Research Articles

<span class="mw-page-title-main">Keratin 18</span>

Keratin 18 is a type I cytokeratin. It is, together with its filament partner keratin 8, perhaps the most commonly found products of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene.

<span class="mw-page-title-main">HSPA1B</span> Human gene

Human gene HSPA1B is an intron-less gene which encodes for the heat shock protein HSP70-2, a member of the Hsp70 family of proteins. The gene is located in the major histocompatibility complex, on the short arm of chromosome 6, in a cluster with two paralogous genes, HSPA1A and HSPA1L. HSPA1A and HSPA1B produce nearly identical proteins because the few differences in their DNA sequences are almost exclusively synonymous substitutions or in the three prime untranslated region, heat shock 70kDa protein 1A, from HSPA1A, and heat shock 70kDa protein 1B, from HSPA1B. A third, more modified paralog to these genes exists in the same region, HSPA1L, which shares a 90% homology with the other two.

<span class="mw-page-title-main">HSP90AB1</span> Protein-coding gene in the species Homo sapiens

Heat shock protein HSP 90-beta also called HSP90beta is a protein that in humans is encoded by the HSP90AB1 gene.

<span class="mw-page-title-main">DNAJA3</span> Protein-coding gene in the species Homo sapiens

DnaJ homolog subfamily A member 3, mitochondrial, also known as Tumorous imaginal disc 1 (TID1), is a protein that in humans is encoded by the DNAJA3 gene on chromosome 16. This protein belongs to the DNAJ/Hsp40 protein family, which is known for binding and activating Hsp70 chaperone proteins to perform protein folding, degradation, and complex assembly. As a mitochondrial protein, it is involved in maintaining membrane potential and mitochondrial DNA (mtDNA) integrity, as well as cellular processes such as cell movement, growth, and death. Furthermore, it is associated with a broad range of diseases, including neurodegenerative diseases, inflammatory diseases, and cancers.

<span class="mw-page-title-main">Ataxin 3</span> Protein-coding gene in the species Homo sapiens

Ataxin-3 is a protein that in humans is encoded by the ATXN3 gene.

<span class="mw-page-title-main">HSPA4</span> Protein-coding gene in the species Homo sapiens

Heat shock 70 kDa protein 4 is a protein that in humans is encoded by the HSPA4 gene.

<span class="mw-page-title-main">DNAJB1</span> Protein-coding gene in the species Homo sapiens

DnaJ homolog subfamily B member 1 is a protein that in humans is encoded by the DNAJB1 gene.

<span class="mw-page-title-main">DNAJA1</span> Protein-coding gene in the species Homo sapiens

DnaJ homolog subfamily A member 1 is a protein that in humans is encoded by the DNAJA1 gene.

<span class="mw-page-title-main">DNAJC3</span> Human protein and coding gene

DnaJ homolog subfamily C member 3 is a protein that in humans is encoded by the DNAJC3 gene.

<span class="mw-page-title-main">DNAJB11</span> Protein-coding gene in the species Homo sapiens

DnaJ homolog subfamily B member 11 is a protein that in humans is encoded by the DNAJB11 gene.

<span class="mw-page-title-main">DNAJB9</span> Protein-coding gene in the species Homo sapiens

DnaJ homolog subfamily B member 9 is a protein that in humans is encoded by the DNAJB9 gene.

<span class="mw-page-title-main">DNAJB2</span> Protein-coding gene in the species Homo sapiens

DnaJ homolog subfamily B member 2 is a protein that in humans is encoded by the DNAJB2 gene.

<span class="mw-page-title-main">DNAJA2</span> Protein-coding gene in the species Homo sapiens

DnaJ homolog subfamily A member 2 is a protein that in humans is encoded by the DNAJA2 gene.

<span class="mw-page-title-main">DNAJC7</span> Protein-coding gene in the species Homo sapiens

DnaJ homolog subfamily C member 7 is a protein that in humans is encoded by the DNAJC7 gene.

<span class="mw-page-title-main">DNAJC10</span> Protein-coding gene in the species Homo sapiens

DnaJ homolog subfamily C member 10 is a protein that in humans is encoded by the DNAJC10 gene.

<span class="mw-page-title-main">DNAJB4</span> Protein-coding gene in the species Homo sapiens

DnaJ homolog subfamily B member 4 is a protein that in humans is encoded by the DNAJB4 gene.

<span class="mw-page-title-main">DNAJC19</span> Protein-coding gene in the species Homo sapiens

Mitochondrial import inner membrane translocase subunit TIM14 is an enzyme that in humans is encoded by the DNAJC19 gene on chromosome 3. TIM14 belongs to the DnaJ family, which has been involved in Hsp40/Hsp70 chaperone systems. As a mitochondrial chaperone, TIM14 functions as part of the TIM23 complex import motor to facilitate the import of nuclear-encoded proteins into the mitochondria. TIM14 also complexes with prohibitin complexes to regulate mitochondrial morphogenesis, and has been implicated in dilated cardiomyopathy with ataxia.

<span class="mw-page-title-main">DNAJC13</span> Protein-coding gene in the species Homo sapiens

DnaJ (Hsp40) homolog, subfamily C, member 13, also known as DNAJC13, is a human gene.

<span class="mw-page-title-main">Auxilin</span> Protein-coding gene in the species Homo sapiens

Putative tyrosine-protein phosphatase auxilin is an enzyme that in humans is encoded by the DNAJC6 gene.

<span class="mw-page-title-main">Chaperone DnaJ</span> Molecular chaperone protein

In molecular biology, chaperone DnaJ, also known as Hsp40, is a molecular chaperone protein. It is expressed in a wide variety of organisms from bacteria to humans.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000105993 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000029131 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Seki N, Hattori A, Hayashi A, Kozuma S, Miyajima N, Saito T (June 1999). "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. doi: 10.1007/s100380050139 . PMID   10319584.
  6. Pei L (January 1999). "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. doi: 10.1074/jbc.274.5.3151 . PMID   9915854.
  7. 1 2 "Entrez Gene: DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6".
  8. 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.
  9. Månsson C, Arosio P, Hussein R, Kampinga HH, Hashem RM, Boelens WC, Dobson CM, Knowles TP, Linse S, Emanuelsson C (November 2014). "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. doi: 10.1074/jbc.M114.595124 . PMC   4223311 . PMID   25217638.
  10. Bengoechea R, Findlay AR, Bhadra AK, Shao H, Stein KC, Pittman SK, Daw JA, Gestwicki JE, True HL, Weihl CC (August 2020). "Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy". The Journal of Clinical Investigation. 130 (8): 4470–4485. doi:10.1172/JCI136167. PMC   7410071 . PMID   32427588.

Further reading