DNAJC5

DNAJC5 (DnaJ Heat Shock Protein Family (Hsp40) Member C5) is a Protein Coding gene. Diseases associated with DNAJC5 include Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant and Ceroid Storage Disease.

Full Name

DnaJ Heat Shock Protein Family (Hsp40) Member C5; DnaJ (Hsp40) Homolog, Subfamily C, Member; Ceroid-Lipofuscinosis Neuronal Protein; CLN4; Ceroid-Lipofuscinosis, Neuronal 4 (Kufs Disease) 2
DnaJ Homolog Subfamily C Member; Cysteine String Protein Alpha 3; Cysteine String Protein 4

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).

Biological Process

Chaperone-mediated protein folding Source: Ensembl
Exocytosis Source: ParkinsonsUK-UCL
Negative regulation of neuron apoptotic process Source: Ensembl
Regulated exocytosis Source: ParkinsonsUK-UCL
Regulation of synaptic vesicle cycle Source: Ensembl
Synaptic vesicle exocytosis Source: ParkinsonsUK-UCL

Cellular Location

Cell membrane; Cytosol; Membrane; Chromaffin granule membrane; Melanosome. 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).

Involvement in disease

Ceroid lipofuscinosis, neuronal, 4B (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.

PTM

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).
Palmitoylated. Could be palmitoylated by DHHC3, DHHC7, DHHC15 and DHHC17. Palmitoylation occurs probably in the cysteine-rich domain and regulates DNAJC5 membrane attachment.