Property Summary

NCBI Gene PubMed Count 27
Grant Count 64
R01 Count 50
Funding $9,658,763.7
PubMed Score 56.60
PubTator Score 39.20

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (20)

Synonym

Accession O75061 B7Z3V8 D3DQ65 D3DQ66 Q32M66 Q4G0K1 Q5T614 Q5T615
Symbols DJC6
PARK19

Gene

Gene RIF (12)

PMID Text
26528954 DNAJC6 mutations are associated with early-onset Parkinson's disease.
25446072 DNAJC6 is up-regulated in hepatocellular carcinoma tissues and up-regulation of DNAJC6 expression predicts poor outcome in patients with HCC
24262182 This review presented that DNAJC6 in recessive forms of juvenile parkinsonism.
24220513 we did not detect any heterozygous or homozygous c.801-2A>G mutation in DNAJC6 in a cohort of Parkinson disease patients from southern Spain.
24126164 Missense mutations in DNAJC6 does not play a major role in PD in the Chinese population.
23211418 Our findings further establish DNAJC6 as a juvenile parkinsonism gene, and expand the spectrums of the parkinsonism phenotype and DNAJC6 mutation
22647716 The DNAJC6 gene encodes auxilin-1, a protein required for clathrin-dependent recycling of synaptic vesicles in neurons that is possibly at the origin of the mental retardation and epilepsy phenotype
22563501 study reports a homozygous mutation in DNAJC6 in two patients with autosomal-recessive juvenile Parkinsonism; the mutation was associated with abnormal transcripts and marked reduced DNAJC6 mRNA level
20198315 Observational study of gene-disease association. (HuGE Navigator)
19851296 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MKDSENKGASSPDMEPSYGGGLFDMVKGGAGRLFSNLKDNLKDTLKDTSSRVIQSVTSYTKGDLDFTYVT      1 - 70
SRIIVMSFPLDNVDIGFRNQVDDIRSFLDSRHLDHYTVYNLSPKSYRTAKFHSRVSECSWPIRQAPSLHN     71 - 140
LFAVCRNMYNWLLQNPKNVCVVHCLDGRAASSILVGAMFIFCNLYSTPGPAIRLLYAKRPGIGLSPSHRR    141 - 210
YLGYMCDLLADKPYRPHFKPLTIKSITVSPIPFFNKQRNGCRPYCDVLIGETKIYSTCTDFERMKEYRVQ    211 - 280
DGKIFIPLNITVQGDVVVSMYHLRSTIGSRLQAKVTNTQIFQLQFHTGFIPLDTTVLKFTKPELDACDVP    281 - 350
EKYPQLFQVTLDVELQPHDKVIDLTPPWEHYCTKDVNPSILFSSHQEHQDTLALGGQAPIDIPPDNPRHY    351 - 420
GQSGFFASLCWQDQKSEKSFCEEDHAALVNQESEQSDDELLTLSSPHGNANGDKPHGVKKPSKKQQEPAA    421 - 490
PPPPEDVDLLGLEGSAMSNSFSPPAAPPTNSELLSDLFGGGGAAGPTQAGQSGVEDVFHPSGPASTQSTP    491 - 560
RRSATSTSASPTLRVGEGATFDPFGAPSKPSGQDLLGSFLNTSSASSDPFLQPTRSPSPTVHASSTPAVN    561 - 630
IQPDVSGGWDWHAKPGGFGMGSKSAATSPTGSSHGTPTHQSKPQTLDPFADLGTLGSSSFASKPTTPTGL    631 - 700
GGGFPPLSSPQKASPQPMGGGWQQGGAYNWQQPQPKPQPSMPHSSPQNRPNYNVSFSAMPGGQNERGKGS    701 - 770
SNLEGKQKAADFEDLLSGQGFNAHKDKKGPRTIAEMRKEEMAKEMDPEKLKILEWIEGKERNIRALLSTM    771 - 840
HTVLWAGETKWKPVGMADLVTPEQVKKVYRKAVLVVHPDKATGQPYEQYAKMIFMELNDAWSEFENQGQK    841 - 910
PLY                                                                       911 - 913
//

Text Mined References (33)

PMID Year Title
26528954 2016 DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.
25446072 2014 DNAJC6 promotes hepatocellular carcinoma progression through induction of epithelial-mesenchymal transition.
25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24262182 2014 Genetics of Parkinson's disease--state of the art, 2013.
24220513 2014 Analysis of c.801-2A>G mutation in the DNAJC6 gene in Parkinson's disease in southern Spain.
24126164 2014 DNAJ mutations are rare in Chinese Parkinson's disease patients and controls.
23211418 2013 DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
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