InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DNAJC6

Summary

InnateDB Protein

IDBP-99465.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DNAJC6

Protein Name

DnaJ (Hsp40) homolog, subfamily C, member 6

Synonyms

DJC6; PARK19;

Species

Homo sapiens

Ensembl Protein

ENSP00000360108

InnateDB Gene

IDBG-99461 (DNAJC6)

Protein Structure

UniProt Annotation

Function

Recruits HSPA8/HSC70 to clathrin-coated vesicles and promotes uncoating of clathrin-coated vesicles. Plays a role in clathrin-mediated endocytosis in neurons (By similarity). {ECO:0000250}.

Subcellular Localization

Disease Associations

Parkinson disease 19, juvenile-onset (PARK19) [MIM:615528]: A juvenile form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK19 is characterized by onset of parkinsonian symptoms in the first or second decade of life. Some patients may have additional neurologic features, including mental retardation and seizures. {ECO:0000269PubMed:22563501, ECO:0000269PubMed:23211418}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in various brain regions, including cerebellum, corpus callosum, cortex, striatum, brainstem, pons, putamen, spinal cord and substantia nigra. Very low expression in non-neural tissues such as leukocytes, liver, adipose tissue, skeletal muscle and bone marrow. {ECO:0000269PubMed:23211418}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	3 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004725	protein tyrosine phosphatase activity
GO:0005515	protein binding
GO:0016791	phosphatase activity
GO:0017124	SH3 domain binding

Biological Process

GO:0006892	post-Golgi vesicle-mediated transport
GO:0008219	cell death
GO:0016311	dephosphorylation
GO:0035335	peptidyl-tyrosine dephosphorylation
GO:0061024	membrane organization
GO:0072318	clathrin coat disassembly
GO:2000369	regulation of clathrin-mediated endocytosis

Cellular Component

GO:0005829	cytosol
GO:0045202	synapse

Protein Structure and Domains

PDB ID

InterPro

IPR000008 C2 domain
IPR000387 Protein-tyrosine/Dual specificity phosphatase
IPR001623 DnaJ domain
IPR014020 Tensin phosphatase, C2 domain
IPR029021 Protein-tyrosine phosphatase-like
IPR029023 Tensin phosphatase, lipid phosphatase domain

PFAM

PF00168
PF00226
PF10409

PRINTS

PR00360
PR00625

PIRSF

SMART

SM00239
SM00271

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt