InnateDB Protein
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IDBP-87442.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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DNAJC5
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Protein Name
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DnaJ (Hsp40) homolog, subfamily C, member 5
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000354111
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InnateDB Gene
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IDBG-87436 (DNAJC5)
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Protein Structure
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Function |
May have an important role in presynaptic function. May be involved in calcium-dependent neurotransmitter release at nerve endings (By similarity). {ECO:0000250}.
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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.
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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.
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Tissue Specificity |
Expressed in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain and heart. {ECO:0000269PubMed:8764987}.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
9
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
3 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001623
DnaJ domain
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PFAM |
PF00226
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PRINTS |
PR00625
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PIRSF |
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SMART |
SM00271
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TIGRFAMs |
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Modification |
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SwissProt |
Q9H3Z4
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PhosphoSite |
PhosphoSite-Q9H3Z4
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TrEMBL |
Q8TET0
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UniProt Splice Variant |
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Entrez Gene |
80331
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UniGene |
Hs.707118
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RefSeq |
NP_079495
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HUGO |
HGNC:16235
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OMIM |
611203
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CCDS |
CCDS13546
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HPRD |
08539
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IMGT |
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EMBL |
AK024508
AK074041
AK128776
AK289585
AL118506
BC053642
CH471077
CR627461
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GenPept |
AAH53642
BAB15798
BAB84867
BAF82274
BAG54730
CAC15495
CAH10594
EAW75191
EAW75192
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