DNAJB6
entrez
10049
canonical
uniprot
O75190
canonical
ensembl
ENSG00000105993
resolver
ensp
ENSP00000262177
resolver
ensp
ENSP00000396267
resolver
ensp
ENSP00000397556
resolver
ensp
ENSP00000488263
resolver
ensp
ENSP00000488740
resolver
ensp
ENSP00000537795
resolver
ensp
ENSP00000537800
resolver
ensp
ENSP00000581795
resolver
ensp
ENSP00000581797
resolver
enst
ENST00000443280
resolver
enst
ENST00000459889
resolver
enst
ENST00000634080
resolver
enst
ENST00000911736
resolver
enst
ENST00000911738
resolver
genesymbol
DNAJB6
resolver
genesymbol_syn
HSJ2
resolver
genesymbol_syn
MRJ
resolver
genesymbol_syn
MSJ1
resolver
hgnc
HGNC:14888
resolver
uniprot
A0A0J9YX62
resolver
uniprot
A4D232
resolver
uniprot
A8K7D8
resolver
uniprot
A8KAG0
resolver
uniprot
B4DN73
resolver
uniprot
E9PCZ2
resolver
uniprot
E9PH18
resolver
uniprot
O95806
resolver
uniprot
Q53EN8
resolver
uniprot
Q59EF2
resolver
uniprot
Q6FIC8
resolver
uniprot
Q75MA2
resolver
uniprot
Q9UIK6
resolver
uniprot_entry
A0A0J9YX62_HUMAN
resolver
uniprot_entry
DNJB6_HUMAN
resolver
uniprot_entry
E9PH18_HUMAN
resolver
uniprot_sec
A4D232
resolver
uniprot_sec
A8K7D8
resolver
uniprot_sec
A8KAG0
resolver
uniprot_sec
B4DN73
resolver
uniprot_sec
E9PCZ2
resolver
uniprot_sec
O95806
resolver
uniprot_sec
Q53EN8
resolver
uniprot_sec
Q59EF2
resolver
uniprot_sec
Q6FIC8
resolver
uniprot_sec
Q75MA2
resolver
uniprot_sec
Q9UIK6
resolver
amino_acid_sequence
MVDYYEVLGVQRHASPEDIKKAYRKLALKWHPDKNPENKEEAERKFKQVAEAYEVLSDAKKRDIYDKYGKEGLNGGGGGGSHFDSPFEFGFTFRNPDDVFREFFGGRDPFSFDFFEDPFEDFFGNRRGPRGSRSRGTGSFFSAFSGFPSFGSGFSSFDTGFTSFGSLGHGGLTSFSSTSFGGSGMGNFKSISTSTKMVNGRKITTKRIVENGQERVEVEEDGQLKSLTINGVADDDALAEERMRRGQNALPAQPAGLRPPKPPRPASLLRHAPHCLSEEEGEQDRPRAPGPWDPLASAAGLKEGGKRKKQKQREESKKKKSTKGNH
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy, limb-girdle, autosomal dominant 1 (LGMDD1) [MIM:603511]: An autosomal dominant myopathy characterized by adult onset of proximal muscle weakness, beginning in the hip girdle region and later progressing to the shoulder girdle region. {ECO:0000269|PubMed:22334415, ECO:0000269|PubMed:22366786}. Note=The disease is caused by variants affecting the gene represented in this entry. There is evidence that LGMDD1 is caused by dysfunction of isoform B (PubMed:22366786). {ECO:0000269|PubMed:22366786}.
uniprot
proteins
function
FUNCTION: Has a stimulatory effect on the ATPase activity of HSP70 in a dose-dependent and time-dependent manner and hence acts as a co-chaperone of HSP70 (PubMed:10954706, PubMed:28233300). Plays an indispensable role in the organization of KRT8/KRT18 filaments (PubMed:10954706). Acts as an endogenous molecular chaperone for neuronal proteins including huntingtin (PubMed:11896048, PubMed:22366786). Suppresses aggregation and toxicity of polyglutamine-containing, aggregation-prone proteins (PubMed:20159555, PubMed:22366786). Also reduces cellular toxicity and caspase-3 activity (PubMed:11896048). {ECO:0000269|PubMed:10954706, ECO:0000269|PubMed:11896048, ECO:0000269|PubMed:20159555, ECO:0000269|PubMed:22366786, ECO:0000269|PubMed:28233300}.; FUNCTION: [Isoform B]: Isoform B but not isoform A inhibits huntingtin aggregation. {ECO:0000269|PubMed:20159555, ECO:0000269|PubMed:22366786}.
uniprot
proteins
mass_dalton
36087
uniprot
proteins
pubmed
10319584
uniprot
proteins
pubmed
10954706
uniprot
proteins
pubmed
11896048
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
12974469
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20159555
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22334415
uniprot
proteins
pubmed
22366786
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28233300
uniprot
proteins
pubmed
9915854
uniprot
proteins
sequence_length
326
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:10954706}. Nucleus {ECO:0000269|PubMed:10954706}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:22366786}.
uniprot
proteins