Property Summary

NCBI Gene PubMed Count 25
PubMed Score 0.00
PubTator Score 54.81

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (2)

Disease Z-score Confidence
diabetes mellitus 1,663
osteosarcoma 7,933

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma -1.008 0.000
diabetes mellitus -1.100 0.002

Synonym

Accession Q9H270 Q8WY89 Q96EP8 Q9H6D9 Q9HCS6 hVPS11
Symbols END1
PEP5
HLD12
RNF108
hVPS11

Gene

Gene RIF (4)

PMID Text
27120463 our study reveals a defect in VPS11 as the underlying etiology for an autosomal recessive leukoencephalopathy disorder associated with a dysfunctional autophagy-lysosome trafficking pathway
26307567 In Ashkenazi-Jewish patients, syndrome with hypomyelination, developmental delay, increasing appendicular spasticity, truncal hypotonia and acquired microcephaly is associated with VPS11 missense mutation, p.Cys846Gly.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MAAYLQWRRFVFFDKELVKEPLSNDGAAPGATPASGSAASKFLCLPPGITVCDSGRGSLVFGDMEGQIWF      1 - 70
LPRSLQLTGFQAYKLRVTHLYQLKQHNILASVGEDEEGINPLVKIWNLEKRDGGNPLCTRIFPAIPGTEP     71 - 140
TVVSCLTVHENLNFMAIGFTDGSVTLNKGDITRDRHSKTQILHKGNYPVTGLAFRQAGKTTHLFVVTTEN    141 - 210
VQSYIVSGKDYPRVELDTHGCGLRCSALSDPSQDLQFIVAGDECVYLYQPDERGPCFAFEGHKLIAHWFR    211 - 280
GYLIIVSRDRKVSPKSEFTSRDSQSSDKQILNIYDLCNKFIAYSTVFEDVVDVLAEWGSLYVLTRDGRVH    281 - 350
ALQEKDTQTKLEMLFKKNLFEMAINLAKSQHLDSDGLAQIFMQYGDHLYSKGNHDGAVQQYIRTIGKLEP    351 - 420
SYVIRKFLDAQRIHNLTAYLQTLHRQSLANADHTTLLLNCYTKLKDSSKLEEFIKKKSESEVHFDVETAI    421 - 490
KVLRQAGYYSHALYLAENHAHHEWYLKIQLEDIKNYQEALRYIGKLPFEQAESNMKRYGKILMHHIPEQT    491 - 560
TQLLKGLCTDYRPSLEGRSDREAPGCRANSEEFIPIFANNPRELKAFLEHMSEVQPDSPQGIYDTLLELR    561 - 630
LQNWAHEKDPQVKEKLHAEAISLLKSGRFCDVFDKALVLCQMHDFQDGVLYLYEQGKLFQQIMHYHMQHE    631 - 700
QYRQVISVCERHGEQDPSLWEQALSYFARKEEDCKEYVAAVLKHIENKNLMPPLLVVQTLAHNSTATLSV    701 - 770
IRDYLVQKLQKQSQQIAQDELRVRRYREETTRIRQEIQELKASPKIFQKTKCSICNSALELPSVHFLCGH    771 - 840
SFHQHCFESYSESDADCPTCLPENRKVMDMIRAQEQKRDLHDQFQHQLRCSNDSFSVIADYFGRGVFNKL    841 - 910
TLLTDPPTARLTSSLEAGLQRDLLMHSRRGT                                           911 - 941
//

Text Mined References (32)

PMID Year Title
27120463 2016 A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26463206 2015 Characterization of the Mammalian CORVET and HOPS Complexes and Their Modular Restructuring for Endosome Specificity.
26307567 2015 Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients.
25783203 2015 Recruitment of VPS33A to HOPS by VPS16 Is Required for Lysosome Fusion with Endosomes and Autophagosomes.
25416956 2014 A proteome-scale map of the human interactome network.
25266290 2014 Mammalian CORVET is required for fusion and conversion of distinct early endosome subpopulations.
24554770 2014 The HOPS complex mediates autophagosome-lysosome fusion through interaction with syntaxin 17.
24270810 2013 High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy.
23901104 2013 Structural basis of Vps33A recruitment to the human HOPS complex by Vps16.
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