Recombinant Human DnaJ homolog subfamily C member 5 (DNAJC5), Biotinylated

Function

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)

Subcellular Location

Cytoplasm, cytosol; Membrane (Lipid-anchor); Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane; Melanosome; Cell membrane

Disease Association

Ceroid lipofuscinosis, neuronal, 4B (Kufs type), autosomal dominant (CLN4B) : 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. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Expressed in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain and heart

Subunit

Oligomers (PubMed:27452402). Homodimer (By similarity). Interacts with the chaperone complex consisting of HSC70 and SGTA (By similarity). Interacts with ZDHHC13 (via ANK repeats) (By similarity). Interacts with ZDHHC17 (via ANK repeats) (PubMed:28882895). Interacts with SYT1, SYT5 and SYT7, and with SYT9, forming a complex with SNAP25 (By similarity)

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• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Deloukas P. et al. The DNA sequence and comparative analysis of human chromosome 20. — Nature (2001)
• Mural R.J. et al. PubMed: CI-5GBD0VIIJ7C63 (SEP-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Hattori A. et al. Characterization of long cDNA clones from human adult spleen. — DNA Res. (2000)
• Evans G.J. et al. Phosphorylation of cysteine string protein by protein kinase A. Implications for the modulation of exocytosis. — J. Biol. Chem. (2001)
• Giorgianni F. et al. Identification and characterization of phosphorylated proteins in the human pituitary. — Proteomics (2004)