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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. [provided by RefSeq, Jul 2008]
DNAJB6 (DnaJ Heat Shock Protein Family (Hsp40) Member B6) is a Protein Coding gene. Diseases associated with DNAJB6 include Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 and Autosomal Dominant Limb-Girdle Muscular Dystrophy. Among its related pathways are Cellular response to heat stress and Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF). Gene Ontology (GO) annotations related to this gene include unfolded protein binding and heat shock protein binding. An important paralog of this gene is DNAJB7.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001671 | ATPase activator activity | IDA | 11896048 |
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 10954706 |
GO:0031072 | heat shock protein binding | IDA | 10954706 |
GO:0051082 | unfolded protein binding | IDA | 21231916 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 10954706 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0016020 | membrane | HDA | 19946888 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cellular response to heat stress | ||
2 | Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF) |
CFTR folding and maturation (norm and CF)
.37
|
Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)
.37
|
3 | Cellular Senescence (REACTOME) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006457 | protein folding | IDA | 11896048 |
GO:0030036 | actin cytoskeleton organization | IEA | -- |
GO:0030198 | extracellular matrix organization | IEA | -- |
GO:0032781 | positive regulation of ATPase activity | IEA | -- |
GO:0032880 | regulation of protein localization | IMP | 20889486 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | DNAJB6 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dnajb6 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Dnajb6 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Cow (Bos Taurus) |
Mammalia | DNAJB6 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DNAJB6 30 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dnajb6 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.9127 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dnajb6b 30 31 |
|
ManyToMany | |
dnajb6a 31 |
|
ManyToMany | |||
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | mrj 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | dnj-24 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.8514 30 |
|
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638968 | Uncertain Significance: Limb-girdle muscular dystrophy, type 1E | 157,384,900(+) | G/T | MISSENSE_VARIANT,INTRON_VARIANT | |
643265 | Uncertain Significance: Limb-girdle muscular dystrophy, type 1E | 157,367,385(+) | T/C | MISSENSE_VARIANT | |
646310 | Uncertain Significance: Limb-girdle muscular dystrophy, type 1E | 157,409,972(+) | G/C | MISSENSE_VARIANT | |
651360 | Uncertain Significance: Limb-girdle muscular dystrophy, type 1E | 157,363,228(+) | A/G | MISSENSE_VARIANT | |
653257 | Uncertain Significance: Limb-girdle muscular dystrophy, type 1E | 157,382,303(+) | G/A | MISSENSE_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1305277 | CNV | insertion | 17803354 |
esv2032343 | CNV | deletion | 18987734 |
esv2670753 | CNV | deletion | 23128226 |
esv2676937 | CNV | deletion | 23128226 |
esv2735675 | CNV | deletion | 23290073 |
esv2735676 | CNV | deletion | 23290073 |
esv2735677 | CNV | deletion | 23290073 |
esv2761391 | CNV | gain | 21179565 |
esv3572369 | CNV | loss | 25503493 |
esv3615688 | CNV | gain | 21293372 |
esv3615694 | CNV | loss | 21293372 |
esv3615695 | CNV | gain | 21293372 |
esv3615696 | CNV | loss | 21293372 |
nsv1129287 | CNV | insertion | 24896259 |
nsv1141841 | CNV | insertion | 24896259 |
nsv1141842 | CNV | insertion | 24896259 |
nsv1148377 | CNV | insertion | 26484159 |
Disorder | Aliases | PubMed IDs |
---|---|---|
muscular dystrophy, limb-girdle, autosomal dominant 1 |
|
|
autosomal dominant limb-girdle muscular dystrophy |
|
|
myofibrillar myopathy |
|
|
muscular dystrophy |
|
|
limb-girdle muscular dystrophy |
|
|