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MGP004023

UniProt Annotations

Entry Information

Gene Name	DnaJ (Hsp40) homolog, subfamily C, member 6
Protein Entry	AUXI_HUMAN
UniProt ID	O75061
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=O75061-1; Sequence=Displayed; Name=2; IsoId=O75061-2; Sequence=VSP_019580; Name=3; IsoId=O75061-3; Sequence=VSP_019579, VSP_019581; Name=4; IsoId=O75061-4; Sequence=VSP_019579; Note=No experimental confirmation available.;
Catalytic Activity	Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
Disease	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:0000269\|PubMed:22563501, ECO:0000269\|PubMed:23211418}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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}.
Sequence Caution	Sequence=BAA32318.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Similarity	Contains 1 C2 tensin-type domain. {ECO:0000255\|PROSITE-ProRule:PRU00589}.
Similarity	Contains 1 J domain. {ECO:0000255\|PROSITE- ProRule:PRU00286}.
Similarity	Contains 1 phosphatase tensin-type domain. {ECO:0000255\|PROSITE-ProRule:PRU00590}.
Subunit	Interacts with HSPA8/HSC70. Interacts with CLTC. Interacts with AP2A2 (By similarity). {ECO:0000250}.
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:0000269\|PubMed:23211418}.