Property Summary

NCBI Gene PubMed Count 27
Grant Count 5
R01 Count 3
Funding $459,294.66
PubMed Score 14.65
PubTator Score 17.64

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
psoriasis -1.600 0.000
osteosarcoma -1.799 0.000
tuberculosis 1.100 0.001
intraductal papillary-mucinous adenoma (... 1.100 0.003
intraductal papillary-mucinous neoplasm ... 1.800 0.001
ovarian cancer 1.900 0.000

Gene RIF (13)

PMID Text
26278106 Mutations in exon 24 of DNAJC13 are not a common cause of Parkinson or Lewy body disease among Caucasian populations.
26134565 These results further highlight the critical role for phosphatidylinositol 3-phosphate in the RME-8-mediated organizational control of various endosomal activities, including retrograde transport.
25550792 Re-expression of miR-193b in breast cancer cell lines decreased DNAJC13 (HPS40) and RAB22A expression, providing a mechanism by which mir193-b acts as a tumor suppressor.
25393719 Although the contribution of rare genetic variation in DNAJC13 to parkinsonisms remains to be further elucidated, this study suggests that, in addition to p.N855S, other rare variants might affect disease susceptibility
25186792 PD associated with a DNAJC13 p.N855S parkinsonism mutation presents as late-onset, often slowly progressive, usually dopamine-responsive typical Parkinsonism.
25118025 DNAJC13 c.2564A>G (p.(N855S)) was identified in two patients with essential tremor.
24643499 Data propose that the interaction between RME-8 and the WASH complex provides a means to coordinate the activity of the WASH complex with the membrane-tubulating function of the sorting.
24218364 a pathogenic mutation in DNAJC13, a component of the endosomal recycling system, helps to emphasize the role of endosomal recycling rather than endolysosomal protein degradation in the biology of late-onset Parkinson disease.
24126164 Missense mutations in DNAJC13 does not play a major role in PD in the Chinese population.
22507240 Found DNAJC13 A2057S variant is probably a rare cause of Tourette syndrome/chronic tic phenotype in Chinese Han patients.
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AA Sequence

MNIIRENKDLACFYTTKHSWRGKYKRVFSVGTHAITTYNPNTLEVTNQWPYGDICSISPVGKGQGTEFNL      1 - 70
TFRKGSGKKSETLKFSTEHRTELLTEALRFRTDFSEGKITGRRYNCYKHHWSDSRKPVILEVTPGGFDQI     71 - 140
NPATNRVLCSYDYRNIEGFVDLSDYQGGFCILYGGFSRLHLFASEQREEIIKSAIDHAGNYIGISLRIRK    141 - 210
EPLEFEQYLNLRFGKYSTDESITSLAEFVVQKISPRHSEPVKRVLALTETCLVERDPATYNIATLKPLGE    211 - 280
VFALVCDSENPQLFTIEFIKGQVRKYSSTERDSLLASLLDGVRASGNRDVCVKMTPTHKGQRWGLLSMPV    281 - 350
DEEVESLHLRFLATPPNGNFADAVFRFNANISYSGVLHAVTQDGLFSENKEKLINNAITALLSQEGDVVA    351 - 420
SNAELESQFQAVRRLVASKAGFLAFTQLPKFRERLGVKVVKALKRSNNGIIHAAVDMLCALMCPMHDDYD    421 - 490
LRQEQLNKASLLSSKKFLENLLEKFNSHVDHGTGALVISSLLDFLTFALCAPYSETTEGQQFDMLLEMVA    491 - 560
SNGRTLFKLFQHPSMAIIKGAGLVMKAIIEEGDKEIATKMQELALSEGALPRHLHTAMFTISSDQRMLTN    561 - 630
RQLSRHLVGLWTADNATATNLLKRILPPGLLAYLESSDLVPEKDADRMHVRDNVKIAMDQYGKFNKVPEW    631 - 700
QRLAGKAAKEVEKFAKEKVDLVLMHWRDRMGIAQKENINQKPVVLRKRRQRIKIEANWDLFYYRFGQDHA    701 - 770
RSNLIWNFKTREELKDTLESEMRAFNIDRELGSANVISWNHHEFEVKYECLAEEIKIGDYYLRLLLEEDE    771 - 840
NEESGSIKRSYEFFNELYHRFLLTPKVNMKCLCLQALAIVYGRCHEEIGPFTDTRYIIGMLERCTDKLER    841 - 910
DRLILFLNKLILNKKNVKDLMDSNGIRILVDLLTLAHLHVSRATVPLQSNVIEAAPDMKRESEKEWYFGN    911 - 980
ADKERSGPYGFHEMQELWTKGMLNAKTRCWAQGMDGWRPLQSIPQLKWCLLASGQAVLNETDLATLILNM    981 - 1050
LITMCGYFPSRDQDNAIIRPLPKVKRLLSDSTCLPHIIQLLLTFDPILVEKVAILLYHIMQDNPQLPRLY   1051 - 1120
LSGVFFFIMMYTGSNVLPVARFLKYTHTKQAFKSEETKGQDIFQRSILGHILPEAMVCYLENYEPEKFSE   1121 - 1190
IFLGEFDTPEAIWSSEMRRLMIEKIAAHLADFTPRLQSNTRALYQYCPIPIINYPQLENELFCNIYYLKQ   1191 - 1260
LCDTLRFPDWPIKDPVKLLKDTLDAWKKEVEKKPPMMSIDDAYEVLNLPQGQGPHDESKIRKAYFRLAQK   1261 - 1330
YHPDKNPEGRDMFEKVNKAYEFLCTKSAKIVDGPDPENIILILKTQSILFNRHKEDLQPYKYAGYPMLIR   1331 - 1400
TITMETSDDLLFSKESPLLPAATELAFHTVNCSALNAEELRRENGLEVLQEAFSRCVAVLTRASKPSDMS   1401 - 1470
VQVCGYISKCYSVAAQFEECREKITEMPSIIKDLCRVLYFGKSIPRVAALGVECVSSFAVDFWLQTHLFQ   1471 - 1540
AGILWYLLGFLFNYDYTLEESGIQKSEETNQQEVANSLAKLSVHALSRLGGYLAEEQATPENPTIRKSLA   1541 - 1610
GMLTPYVARKLAVASVTEILKMLNSNTESPYLIWNNSTRAELLEFLESQQENMIKKGDCDKTYGSEFVYS   1611 - 1680
DHAKELIVGEIFVRVYNEVPTFQLEVPKAFAASLLDYIGSQAQYLHTFMAITHAAKVESEQHGDRLPRVE   1681 - 1750
MALEALRNVIKYNPGSESECIGHFKLIFSLLRVHGAGQVQQLALEVVNIVTSNQDCVNNIAESMVLSSLL   1751 - 1820
ALLHSLPSSRQLVLETLYALTSSTKIIKEAMAKGALIYLLDMFCNSTHPQVRAQTAELFAKMTADKLIGP   1821 - 1890
KVRITLMKFLPSVFMDAMRDNPEAAVHIFEGTHENPELIWNDNSRDKVSTTVREMMLEHFKNQQDNPEAN   1891 - 1960
WKLPEDFAVVFGEAEGELAVGGVFLRIFIAQPAWVLRKPREFLIALLEKLTELLEKNNPHGETLETLTMA   1961 - 2030
TVCLFSAQPQLADQVPPLGHLPKVIQAMNHRNNAIPKSAIRVIHALSENELCVRAMASLETIGPLMNGMK   2031 - 2100
KRADTVGLACEAINRMFQKEQSELVAQALKADLVPYLLKLLEGIGLENLDSPAATKAQIVKALKAMTRSL   2101 - 2170
QYGEQVNEILCRSSVWSAFKDQKHDLFISESQTAGYLTGPGVAGYLTAGTSTSVMSNLPPPVDHEAGDLG   2171 - 2240
YQT                                                                      2241 - 2243
//

Text Mined References (32)

PMID Year Title
27270108 2016 Identification of TMEM230 mutations in familial Parkinson's disease.
27236598 2016 Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease.
26965686 2016 Other proteins involved in Parkinson's disease and related disorders.
26278106 2015 DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients.
26134565 2015 Receptor-mediated Endocytosis 8 Utilizes an N-terminal Phosphoinositide-binding Motif to Regulate Endosomal Clathrin Dynamics.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25550792 2014 Tumor suppressive microRNA-193b promotes breast cancer progression via targeting DNAJC13 and RAB22A.
25393719 2015 DNAJC13 genetic variants in parkinsonism.
25186792 2014 Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism.
25118025 2015 VPS35 and DNAJC13 disease-causing variants in essential tremor.
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