CSP est un gène codé par le symbole DNAJC5. D'autres noms incluent: DnaJ homolog subfamily C member 5; Ceroid-lipofuscinosis neuronal protein 4; Cysteine string protein; DNAJC5; CLN4. CSP a une masse de 22.15kDa, une longueur d'acide aminé de 198, et est impliqué dans Ceroid lipofuscinosis, neuronal, 4B.
Nous proposons 6 des anticorps contre CSP, élevé dans Lapin et Chèvre, qui sont appropriés pour le WB, IHC et ELISA avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Acts as a general chaperone in regulated exocytosis (By similarity). Acts as a co-chaperone for the SNARE protein SNAP-25 (By similarity). Involved in the calcium-mediated control of a late stage of exocytosis (By similarity). May have an important role in presynaptic function. May be involved in calcium-dependent neurotransmitter release at nerve endings (By similarity).
Résumé Entrez
This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and protein folding, and has been shown to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic fibrosis and Huntington's disease. A pseudogene of this gene is located on the short arm of chromosome 8.
Spécificité tissulaire
Expressed in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain and heart.
Implication dans la maladie
Ceroid lipofuscinosis, neuronal, 4B: An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4B has no visual involvement and is characterized by seizures and other neurologic symptoms.
Modification post-traductionnelle
Ser-10 phosphorylation induces an order-to-disorder transition triggering the interaction with Lys-58 (PubMed:27452402). This conformational switch modulates DNAJC5's cellular functions by reducing binding to syntaxin and synaptogamin without altering HSC70 interactions (PubMed:27452402).
Localisation cellulaire
Cytoplasm > Cytosol. Membrane. Cytoplasmic vesicle > Secretory vesicle > Chromaffin granule membrane. Melanosome. Cell membrane.
The association with membranes is regulated by palmitoylation (By similarity). Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065).
