Property Summary

NCBI Gene PubMed Count 61
PubMed Score 99.23
PubTator Score 99.48

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.111 1.2e-02
astrocytoma 1.300 1.4e-02
juvenile dermatomyositis 1.155 6.3e-12
ovarian cancer -2.300 3.4e-10
dermatomyositis 1.300 4.6e-04

Gene RIF (45)

PMID Text
26671123 a novel homozygous mutation in the splice site donor of intron 30 (c.5866+1G>A) in consanguineous Japanese SPG11 siblings showing late-onset spastic paraplegia (whole-exome sequencing)
26556829 SPG11 is the causative gene of a wide spectrum of clinical features, including autosomal recessive axonal Charcot-Marie-Tooth disease. 1
26003865 novel compound heterozygous mutations in SPG11 are associated with HSP and lower motor neuron involvement, mild cerebellar signs and dysgenesis of the corpus callosum
25769290 SPG11 mutation has been identified in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia.
25365221 spastizin and spatacsin were essential components for the initiation of lysosomal tubulation. Together, these results link dysfunction of the autophagy/lysosomal biogenesis machinery to neurodegeneration.
24794856 Study provides evidence that SPG11 is implicated in axonal maintenance and cargo trafficking.
24315199 We have identified an Hereditary spastic paraplegia patient who inherited the c.5121_5122insAG mutation from his mother and the c.6859C>T mutation from his father
24112408 widespread accumulation of spatacsin observed in pathologic alpha-synuclein-containing inclusions suggests that spatacsin may be involved in the pathogenesis of alpha-synucleinopathies
24090761 This study identified novel compound heterozygous mutations in the SPG11 gene of the patients as follows: a nonsense mutation c.6856C>T (p.R2286X) in exon 38 and a deletion mutation c.2863delG (p.Glu955Lysfs*8) in exon 16.
24085347 SPG11 mutations were identified in autosomal recessive juvenile Amyotrophic lateral sclerosis.
23825025 We propose AP-5, SPG15, SPG11 form a coat-like complex, with AP-5 involved in protein sorting, SPG15 facilitating docking of the coat onto membranes by interacting with PI3P via its FYVE domain, and SPG11 (possibly together with SPG15) forming a scaffold.
23438842 A novel homozygous nonsense mutation in exon 15 of the SPG11 gene (c.2678G>A; p.W893X) found in two Spanish siblings with a complicated forms of hereditary spastic paraplegia.
23221952 There was a characteristic gradation in the reduction of microstructural integrity among fiber types and within the CC in patients with the SPG11 mutation
23121729 This study widens the spectrum of mutations in SPG11
22696581 mutations result in white and grey matter abnormalities
22237444 The analysis shows that the high number of repeated elements in SPG11 together with the presence of recombination hotspots and the high intrinsic instability of the 15q locus all contribute toward making this genomic region more prone to large gene rearrangements.
22154821 This study confirmed that SPG11 as a genetic cause of juvenile amyotrophic lateral sclerosis and indicate that SPG11 mutations could be associated with 2 different clinical phenotypes within the same family.
21545838 Spatacsin was strongly expressed in cortical and spinal motor neurons and in embryos. It partially co-localized with multiple organelles, particularly with protein-trafficking vesicles, endoplasmic reticulum and microtubules.
21440262 SPG11, the most frequent gene associated with hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) encodes spatacsin, demonstrating the extensive genetic heterogeneity of this condition.
21035867 Retinal changes, an integral part of SPG11 mutations in this series of patients, are only observed once the paraplegia has become apparent.
20971220 Data support the importance of SPG11 as a frequent cause for ARHSP-TCC, and expands the clinical SPG11 spectrum.
20669327 We identified genetic deficits in spatacsin that were associated with Levodopa responsive parkinsonism with pyramidal signs.
20390432 analysis of SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20110243 Up to 12 sequence alterations in the spatacsin gene have been identified in unrelated pedigrees with autosomal recessive juvenile amyotrophic lateral sclerosis.
19917823 phenotype and mutation frequency compared with SPG15 in complicated hereditary spastic paraplegia
19513778 we report three novel and one known heterozygous compound SPG11 mutations in patients with hereditary spastic paraplegia with thin corpus callosum; these are the first cases of genetically confirmed SPG11 mutations in the Korean population.
19224311 Evidence that parkinsonism may initiate SPG11-linked HSP TCC and that SPG11 may cause juvenile parkinsonism.
19196735 Findings expand the mutation spectrum of SPG11 and suggest that SPG11 mutations may occur more frequently in familial than sporadic forms of cHSP without TCC.
19194956 Degeneration of the central retina is a common and previously unrecognized feature in SPG11 related disease.
19105190 While expanding the spectrum of mutations in SPG11, this larger series also corroborated the notion that even within apparently homogeneous population a molecular diagnosis cannot be achieved without full gene sequencing.
19087158 This study confirms heterogeneity amongst Italian families with hereditary spastic paraplegia/thin corpus callosum and reports a new mutation predicted to affect splicing in the spatacsin gene.
19084844 ZFYVE26 is the second gene responsible for spastic paraplegia with thinning of the corpus callosum in the Italian population
19040626 Abnormal MRI signal in the region of the forceps minor of the corpus callosum is a characteristic early imaging finding of HSP-TCC with SPG11 mutations.
18835492 This study widens the mutation spectrum of the SPG11 gene and the mutations in the SPG11 gene are also the major causative gene for HSP-TCC in the Chinese Hans.
18717728 5 new spatacsin mutations were found in complex autosomal recessive hereditary spastic paraplegia:p.C133LfsX154, p.Q1875X, p.K2386QfsX2393,c.2834 + 1G > T & c.6754 + 4insTG.
18663179 Loss-of-function SPG11 mutations are the major cause of autosomal recessive hereditary spastic paraparesis with thin corpus callosum in Southern Europe, even in apparently sporadic cases.
18439221 SPG11 mutations should be suspected in patients with isolated or recessive HSP, thin corpus callosum and mental retardation.
18408091 Genetic and phenotypic data on five patients from two Taiwanese/Chinese families with ARHSP-TCC.
18361476 Mutations of the SPG11 gene encoding the spatacsin protein have been identified as a major cause of hereditary spastic paraplegia.
18337587 Mutations on KIAA1840 are frequent in complex autosomal recessive hereditary spastic paraplegia, but they are an infrequent cause of sporadic complex hereditary spastic paraplegia.
18332254 Autosomal recessive HSP-TCC is a frequent subtype of complicated HSP in Tunisia and is clinically and genetically heterogeneous. SPG11 and SPG15 are the major loci for this entity.
18079167 The study reveals the high frequency of SPG11 mutations in patients with HSP, a TCC and cognitive impairment, including in isolated patients, and extends the associated phenotype.
18067136 Frameshift, nonsense mutations, and splice mutations in SPG11. Mutations are major cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum associated with severe motor and cognitive impairment.
17322883 mutations in the SPG11 gene causes spastic paraplegia with thin corpus callosum

AA Sequence

MAAEEGVASAASAGGSWGTAAMGRVLPMLLVPVPAEAMGQLGSRAQLRTQPEALGSLTAAGSLQVLSLTP      1 - 70
GSRGGGRCCLEGPFWHFLWEDSRNSSTPTEKPKLLALGENYELLIYEFNLKDGRCDATILYSCSREALQK     71 - 140
LIDDQDISISLLSLRILSFHNNTSLLFINKCVILHIIFPERDAAIRVLNCFTLPLPAQAVDMIIDTQLCR    141 - 210
GILFVLSSLGWIYIFDVVDGTYVAHVDLALHKEDMCNEQQQEPAKISSFTSLKVSQDLDVAVIVSSSNSA    211 - 280
VALNLNLYFRQHPGHLLCERILEDLPIQGPKGVDEDDPVNSAYNMKLAKFSFQIDRSWKAQLSSLNETIK    281 - 350
NSKLEVSCCAPWFQDILHLESPESGNHSTSVQSWAFIPQDIMHGQYNVLQKDHAKTSDPGRSWKIMHISE    351 - 420
QEEPIELKCVSVTGFTALFTWEVERMGYTITLWDLETQGMQCFSLGTKCIPVDSSGDQQLCFVLTENGLS    421 - 490
LILFGLTQEEFLNRLMIHGSASTVDTLCHLNGWGRCSIPIHALEAGIENRQLDTVNFFLKSKENLFNPSS    491 - 560
KSSVSDQFDHLSSHLYLRNVEELIPALDLLCSAIRESYSEPQSKHFSEQLLNLTLSFLNNQIKELFIHTE    561 - 630
ELDEHLQKGVNILTSYINELRTFMIKFPWKLTDAIDEYDVHENVPKVKESNIWKKLSFEEVIASAILNNK    631 - 700
IPEAQTFFRIDSHSAQKLEELIGIGLNLVFDNLKKNNIKEASELLKNMGFDVKGQLLKICFYTTNKNIRD    701 - 770
FLVEILKEKNYFSEKEKRTIDFVHQVEKLYLGHFQENMQIQSFPRYWIKEQDFFKHKSVLDSFLKYDCKD    771 - 840
EFNKQDHRIVLNWALWWDQLTQESILLPRISPEEYKSYSPEALWRYLTARHDWLNIILWIGEFQTQHSYA    841 - 910
SLQQNKWPLLTVDVINQNTSCNNYMRNEILDKLARNGVFLASELEDFECFLLRLSRIGGVIQDTLPVQNY    911 - 980
KTKEGWDFHSQFILYCLEHSLQHLLYVYLDCYKLSPENCPFLEKKELHEAHPWFEFLVQCRQVASNLTDP    981 - 1050
KLIFQASLANAQILIPTNQASVSSMLLEGHTLLALATTMYSPGGVSQVVQNEENENCLKKVDPQLLKMAL   1051 - 1120
TPYPKLKTALFPQCTPPSVLPSDITIYHLIQSLSPFDPSRLFGWQSANTLAIGDAWSHLPHFSSPDLVNK   1121 - 1190
YAIVERLNFAYYLHNGRPSFAFGTFLVQELIKSKTPKQLIQQVGNEAYVIGLSSFHIPSIGAACVCFLEL   1191 - 1260
LGLDSLKLRVDMKVANIILSYKCRNEDAQYSFIRESVAEKLSKLADGEKTTTEELLVLLEEGTWNSIQQQ   1261 - 1330
EIKRLSSESSSQWALVVQFCRLHNMKLSISYLRECAKANDWLQFIIHSQLHNYHPAEVKSLIQYFSPVIQ   1331 - 1400
DHLRLAFENLPSVPTSKMDSDQVCNKCPQELQGSKQEMTDLFEILLQCSEEPDSWHWLLVEAVKQQAPIL   1401 - 1470
SVLASCLQGASAISCLCVWIITSVEDNVATEAMGHIQDSTEDHTWNLEDLSVIWRTLLTRQKSKTLIRGF   1471 - 1540
QLFFKDSPLLLVMEMYELCMFFRNYKEAEAKLLEFQKSLETLNTAATKVHPVIPAMWLEDQVCFLLKLML   1541 - 1610
QQCKTQYELGKLLQLFVEREHLFSDGPDVKKLCILCQILKDTSIAINHTIITSYSIENLQHECRSILERL   1611 - 1680
QTDGQFALARRVAELAELPVDNLVIKEITQEMQTLKHIEQWSLKQARIDFWKKCHENFKKNSISSKAASS   1681 - 1750
FFSTQAHVACEHPTGWSSMEERHLLLTLAGHWLAQEDVVPLDKLEELEKQIWLCRITQHTLGRNQEETEP   1751 - 1820
RFSRQISTSGELSFDSLASEFSFSKLAALNTSKYLELNSLPSKETCENRLDWKEQESLNFLIGRLLDDGC   1821 - 1890
VHEASRVCRYFHFYNPDVALVLHCRALASGEASMEDLHPEIHALLQSAELLEEEAPDIPLRRVHSTSSLD   1891 - 1960
SQKFVTVPSSNEVVTNLEVLTSKCLHGKNYCRQVLCLYDLAKELGCSYTDVAAQDGEAMLRKILASQQPD   1961 - 2030
RCKRAQAFISTQGLKPDTVAELVAEEVTRELLTSSQGTGHKQMFNPTEESQTFLQLTTLCQDRTLVGMKL   2031 - 2100
LDKISSVPHGELSCTTELLILAHHCFTLTCHMEGIIRVLQAAHMLTDNHLAPSEEYGLVVRLLTGIGRYN   2101 - 2170
EMTYIFDLLHKKHYFEVLMRKKLDPSGTLKTALLDYIKRCRPGDSEKHNMIALCFSMCREIGENHEAAAR   2171 - 2240
IQLKLIESQPWEDSLKDGHQLKQLLLKALTLMLDAAESYAKDSCVRQAQHCQRLTKLITLQIHFLNTGQN   2241 - 2310
TMLINLGRHKLMDCILALPRFYQASIVAEAYDFVPDWAEILYQQVILKGDFNYLEEFKQQRLLKSSIFEE   2311 - 2380
ISKKYKQHQPTDMVMENLKKLLTYCEDVYLYYKLAYEHKFYEIVNVLLKDPQTGCCLKDMLAG          2381 - 2443
//

Text Mined References (65)

PMID Year Title
26671123 2015 Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation.
26556829 2016 ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
26003865 2015 Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes.
25769290 2015 SPG11 mutation in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia.
25416956 2014 A proteome-scale map of the human interactome network.
25365221 2014 Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation.
24794856 2014 Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia.
24315199 2014 Novel mutations c.[5121_5122insAG]+[6859C>T] of the SPG11 gene associated with cerebellum hypometabolism in a Chinese case of hereditary spastic paraplegia with thin corpus callosum.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24112408 2014 Immunohistochemical localization of spatacsin in ?-synucleinopathies.
24090761 2013 Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia.
24085347 2013 Amyotrophic lateral sclerosis: an update on recent genetic insights.
23825025 2013 Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15.
23438842 2014 Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23221952 2013 Microstructural integrity of cerebral fiber tracts in hereditary spastic paraparesis with SPG11 mutation.
23121729 2013 Novel SPG11 mutations in Chinese families with hereditary spastic paraplegia with thin corpus callosum.
22696581 2012 White and grey matter abnormalities in patients with SPG11 mutations.
22237444 2012 Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations.
22154821 2012 Exome sequencing reveals SPG11 mutations causing juvenile ALS.
21545838 2011 Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia.
21440262 2011 A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.
21035867 2011 Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.
20971220 Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum.
20669327 2010 Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.
20613862 2010 A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia.
20390432 2010 Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20110243 2010 SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.
19917823 2009 Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.
19513778 2009 Novel compound heterozygous mutations of the SPG11 gene in Korean families with hereditary spastic paraplegia with thin corpus callosum.
19224311 2009 SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.
19196735 2009 Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.
19194956 2009 SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.
19105190 2009 Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
19087158 2009 Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity.
19084844 2009 Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.
19040626 2009 Forceps minor region signal abnormality "ears of the lynx": an early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15.
18835492 2008 Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.
18717728 2008 Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18663179 2008 SPG11 compound mutations in spastic paraparesis with thin corpus callosum.
18439221 2008 SPG11--the most common type of recessive spastic paraplegia in Norway?
18408091 2008 Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum.
18361476 2008 Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum.
18337587 2008 SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.
18332254 2008 Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity.
18079167 2008 Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
18067136 2007 Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17897319 2007 Integral and associated lysosomal membrane proteins.
17717710 2007 SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.
17322883 2007 Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
16699786 2006 Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
11347906 2001 Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
10408536 1999 Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.
8206979 1994 Induction of heat-stable enterotoxin receptor activity by a human Alu repeat.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.