Property Summary

NCBI Gene PubMed Count 27
Grant Count 13
R01 Count 5
Funding $1,444,199
PubMed Score 27.67
PubTator Score 20.94

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
ovarian cancer 1.200 0.001

Gene RIF (11)

PMID Text
26965651 A mutation in the WASH component KIAA0196 (strumpellin) is associated with hypercholesterolaemia in humans.
24824269 Study found a novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia.
24065355 To identify the underlying genetic cause of Ritscher-Schinzel syndrome, affected individuals from a First Nations community in Manitoba underwent mutational analysis. All eight patients were homozygous for a novel splice site mutation in KIAA0196.
23881105 we identified a novel KIAA0196 missense variant in the proband and her daughter expanding the clinical spectrum of hereditary spastic paraplegia 8.
23455931 We have identified a fourth pathogenic KIAA0196 mutation in a Dutch hereditary spastic paraplegia family, the seventh family worldwide, with a less severe clinical course than described before.
23085491 Strumpellin disease mutations do not affect its incorporation into the WASH complex or its subcellular localisation.
20833645 strumpellin is a ubiquitously expressed protein present in cytosolic and endoplasmic reticulum cell fractions. In the human central nervous system strumpellin shows a presynaptic localization.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20376207 WAFL may play an important role in endocytosis and subsequent membrane trafficking by interacting with AP2 through KIAA0196 and KIAA1033
17160902 Identified three mutations in the KIAA0196 gene in six families that map to the SPG8 locus. The identification and characterization of the KIAA0196 gene will enable further insight into the pathogenesis of HSP.
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AA Sequence

MLDFLAENNLCGQAILRIVSCGNAIIAELLRLSEFIPAVFRLKDRADQQKYGDIIFDFSYFKGPELWESK      1 - 70
LDAKPELQDLDEEFRENNIEIVTRFYLAFQSVHKYIVDLNRYLDDLNEGVYIQQTLETVLLNEDGKQLLC     71 - 140
EALYLYGVMLLVIDQKIEGEVRERMLVSYYRYSAARSSADSNMDDICKLLRSTGYSSQPGAKRPSNYPES    141 - 210
YFQRVPINESFISMVIGRLRSDDIYNQVSAYPLPEHRSTALANQAAMLYVILYFEPSILHTHQAKMREIV    211 - 280
DKYFPDNWVISIYMGITVNLVDAWEPYKAAKTALNNTLDLSNVREQASRYATVSERVHAQVQQFLKEGYL    281 - 350
REEMVLDNIPKLLNCLRDCNVAIRWLMLHTADSACDPNNKRLRQIKDQILTDSRYNPRILFQLLLDTAQF    351 - 420
EFILKEMFKQMLSEKQTKWEHYKKEGSERMTELADVFSGVKPLTRVEKNENLQAWFREISKQILSLNYDD    421 - 490
STAAGRKTVQLIQALEEVQEFHQLESNLQVCQFLADTRKFLHQMIRTINIKEEVLITMQIVGDLSFAWQL    491 - 560
IDSFTSIMQESIRVNPSMVTKLRATFLKLASALDLPLLRINQANSPDLLSVSQYYSGELVSYVRKVLQII    561 - 630
PESMFTSLLKIIKLQTHDIIEVPTRLDKDKLRDYAQLGPRYEVAKLTHAISIFTEGILMMKTTLVGIIKV    631 - 700
DPKQLLEDGIRKELVKRVAFALHRGLIFNPRAKPSELMPKLKELGATMDGFHRSFEYIQDYVNIYGLKIW    701 - 770
QEEVSRIINYNVEQECNNFLRTKIQDWQSMYQSTHIPIPKFTPVDESVTFIGRLCREILRITDPKMTCHI    771 - 840
DQLNTWYDMKTHQEVTSSRLFSEIQTTLGTFGLNGLDRLLCFMIVKELQNFLSMFQKIILRDRTVQDTLK    841 - 910
TLMNAVSPLKSIVANSNKIYFSAIAKTQKIWTAYLEAIMKVGQMQILRQQIANELNYSCRFDSKHLAAAL    911 - 980
ENLNKALLADIEAHYQDPSLPYPKEDNTLLYEITAYLEAAGIHNPLNKIYITTKRLPYFPIVNFLFLIAQ    981 - 1050
LPKLQYNKNLGMVCRKPTDPVDWPPLVLGLLTLLKQFHSRYTEQFLALIGQFICSTVEQCTSQKIPEIPA   1051 - 1120
DVVGALLFLEDYVRYTKLPRRVAEAHVPNFIFDEFRTVL                                  1121 - 1159
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Text Mined References (32)

PMID Year Title
26965651 2016 CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25454649 2014 A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.
24931836 2014 C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.
24824269 2014 A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia.
24643499 2014 RME-8 coordinates the activity of the WASH complex with the function of the retromer SNX dimer to control endosomal tubulation.
24065355 2013 A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.
23881105 2013 Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.
23676666 2013 The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type II?.
23455931 2013 Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.
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