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P25686 Proteins UIM domain Repeats
Uniprot ID:P25686
Protein name: DnaJ homolog subfamily B member 2
Gene : DNAJB2 HSJ1 HSPF3
Protein Family:
Squence Length : 324
Sequnce
>P25686 325 MASYYEILDVPRSASADDIKKAYRRKALQWHPDKNPDNKEFAEKKFKEVAEAYEVLSDKHKREIYDRYGREGLTGTGTGPSRAEAGSGGPGFTFTFRSPEEVFREFFGSGDPFAELFDDLGPFSELQNRGSRHSGPFFTFSSSFPGHSDFSSSSFSFSPGAGAFRSVSTSTTFVQGRRITTRRIMENGQERVEVEEDGQLKSVTINGVPDDLALGLELSRREQQPSVTSRSGGTQVQQTPASCPLDSDLSEDEDLQLAMAYSLSEMEAAGKKPAGGREAQHRRQGRPKAQHQDPGLGGTQEGARGEATKRSPSPEEKASRCLIL
Domains
DOMAIN 2 71 J DOMAIN 210 226 UIM 1 DOMAIN 250 269 UIM 2
UIM sequence regions
210 - 226 LALGLELSRREQQPSVT 250 - 269 DEDLQLAMAYSLSEMEAAGK
Function
"Functions as a co-chaperone, regulating the substrate binding and activating the ATPase activity of chaperones of the HSP70/heat shock protein 70 family (PubMed:7957263, PubMed:22219199). In parallel, also contributes to the ubiquitin-dependent proteasomal degradation of misfolded proteins (PubMed:15936278, PubMed:21625540). Thereby, may regulate the aggregation and promote the functional recovery of misfolded proteins like HTT, MC4R, PRKN, RHO and SOD1 and be crucial for many biological processes (PubMed:12754272, PubMed:20889486, PubMed:21719532, PubMed:22396390, PubMed:24023695). Isoform 1 which is localized to the endoplasmic reticulum membranes may specifically function in ER-associated protein degradation of misfolded proteins (PubMed:15936278)"
Motifs
MOTIF 321 324 CAAX motif
Mutation
"31 33 HPD->QPN: Loss of interaction with HSP70 and loss of the ability to promote ATXN3 proteasomal degradation 31 31 H->Q: Probable loss of interaction with HSP70 and loss of the ability to reduce PRKN aggregation 219 219 S->A: Loss of interaction with polyubiquitin chains, loss of interaction with PSMA3, and loss of the ability to protect ATXN3 from proteasomal degradation when associated with A-222 A-262 and A-265 222 222 E->A: Loss of interaction with polyubiquitin chains, loss of interaction with PSMA3, and loss of the ability to protect ATXN3 from proteasomal degradation when associated with A-219 A-262 and A-265 262 262 S->A: Loss of interaction with polyubiquitin chains, loss of interaction with PSMA3, and loss of the ability to protect ATXN3 from proteasomal degradation when associated with A-219 A-222 and A-265 265 265 E->A: Loss of interaction with polyubiquitin chains, loss of interaction with PSMA3, and loss of the ability to protect ATXN3 from proteasomal degradation when associated with A-219 A-222 and A-262 321 321 C->S: Loss of localization to the endoplasmic reticulum and relocalization to cytoplasm and nucleus 324 324 L->M: No effect on localization to the endoplasmic reticulum membrane"
Disease
"DISEASE: Distal spinal muscular atrophy, autosomal recessive, 5 (DSMA5) [MIM:614881]: An autosomal recessive neurologic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes due to impaired function of motor nerves Sensation and cognition are not impaired Note=The disease is caused by mutations affecting the gene represented in this entry"