Homo sapiens Protein: DNAJC5
Summary
InnateDB Protein IDBP-87442.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DNAJC5
Protein Name DnaJ (Hsp40) homolog, subfamily C, member 5
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000354111
InnateDB Gene IDBG-87436 (DNAJC5)
Protein Structure
UniProt Annotation
Function May have an important role in presynaptic function. May be involved in calcium-dependent neurotransmitter release at nerve endings (By similarity). {ECO:0000250}.
Subcellular Localization Membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}. Melanosome. Cell membrane. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.
Disease Associations Ceroid lipofuscinosis, neuronal, 4B (CLN4B) [MIM:162350]: 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. {ECO:0000269PubMed:21820099, ECO:0000269PubMed:22073189, ECO:0000269PubMed:22235333, ECO:0000269PubMed:22978711}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain and heart. {ECO:0000269PubMed:8764987}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 9 [view]
Protein-Protein 9 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001948 glycoprotein binding
GO:0043008 ATP-dependent protein binding
Biological Process
GO:0007268 synaptic transmission
GO:0007269 neurotransmitter secretion
GO:0008219 cell death
GO:0043524 negative regulation of neuron apoptotic process
Cellular Component
GO:0005739 mitochondrion
GO:0005765 lysosomal membrane
GO:0005886 plasma membrane
GO:0008021 synaptic vesicle
GO:0016020 membrane
GO:0042470 melanosome
GO:0061202 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR001623 DnaJ domain
PFAM PF00226
PRINTS PR00625
PIRSF
SMART SM00271
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9H3Z4
PhosphoSite PhosphoSite-Q9H3Z4
TrEMBL Q8TET0
UniProt Splice Variant
Entrez Gene 80331
UniGene Hs.707118
RefSeq NP_079495
HUGO HGNC:16235
OMIM 611203
CCDS CCDS13546
HPRD 08539
IMGT
EMBL AK024508 AK074041 AK128776 AK289585 AL118506 BC053642 CH471077 CR627461
GenPept AAH53642 BAB15798 BAB84867 BAF82274 BAG54730 CAC15495 CAH10594 EAW75191 EAW75192