Property Summary

NCBI Gene PubMed Count 34
Grant Count 19
R01 Count 7
Funding $3,289,179.71
PubMed Score 47.12
PubTator Score 29.97

Knowledge Summary

Patent

No data available

Expression

Gene RIF (18)

PMID Text
26003402 Study identified mutation in SPG20 as the disease causing mutation for Troyer Syndrome in Turkish siblings.
25942454 Up-regulation of SPG20 expression, brought about by trisomy 13 in colon cancer cells trisomy 13 amniocytes, is sufficient for the cytokinesis failure phenotype.
24381142 hypermethylation of the spastic paraplegia-20 promoter occurred frequently in gastric cancer.
23439121 Spartin regulates both synaptic development and neuronal survival by controlling microtubule stability via the BMP-Drosophila fragile X mental retardation protein-Futsch pathway.
23372428 The study reveals that hypermethylation in Spastic paraplegia-20 promoter is a highly specific and sensitive biomarker for screening colorectal cancer in stool samples as a noninvasive method.
21559443 SPG20 protein spartin associates with cardiolipin via its plant-related senescence domain and regulates mitochondrial Ca2+ homeostasis
21499309 The present study identifies SPG20 promoter hypermethylation as a biomarker suitable for non-invasive detection of colorectal cancer, and a possible mechanism for cytokinesis arrest in colorectal tumorigenesis.
20719964 These data suggest that Ist1 interaction is important for spartin recruitment to the midbody and that spartin participates in cytokinesis.
20504295 Spartin acts as an adaptor protein that activates and recruits AIP4 E3 ubiquitin ligase to lipid droplets and by this means regulates the level of ubiquitination of adipophilin.
19620182 The hereditary spastic paraplegia proteins NIPA1, spastin and spartin inhibit BMP signalling by promoting BMP receptors degradation.
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AA Sequence

MEQEPQNGEPAEIKIIREAYKKAFLFVNKGLNTDELGQKEEAKNYYKQGIGHLLRGISISSKESEHTGPG      1 - 70
WESARQMQQKMKETLQNVRTRLEILEKGLATSLQNDLQEVPKLYPEFPPKDMCEKLPEPQSFSSAPQHAE     71 - 140
VNGNTSTPSAGAVAAPASLSLPSQSCPAEAPPAYTPQAAEGHYTVSYGTDSGEFSSVGEEFYRNHSQPPP    141 - 210
LETLGLDADELILIPNGVQIFFVNPAGEVSAPSYPGYLRIVRFLDNSLDTVLNRPPGFLQVCDWLYPLVP    211 - 280
DRSPVLKCTAGAYMFPDTMLQAAGCFVGVVLSSELPEDDRELFEDLLRQMSDLRLQANWNRAEEENEFQI    281 - 350
PGRTRPSSDQLKEASGTDVKQLDQGNKDVRHKGKRGKRAKDTSSEEVNLSHIVPCEPVPEEKPKELPEWS    351 - 420
EKVAHNILSGASWVSWGLVKGAEITGKAIQKGASKLRERIQPEEKPVEVSPAVTKGLYIAKQATGGAAKV    421 - 490
SQFLVDGVCTVANCVGKELAPHVKKHGSKLVPESLKKDKDGKSPLDGAMVVAASSVQGFSTVWQGLECAA    491 - 560
KCIVNNVSAETVQTVRYKYGYNAGEATHHAVDSAVNVGVTAYNINNIGIKAMVKKTATQTGHTLLEDYQI    561 - 630
VDNSQRENQEGAANVNVRGEKDEQTKEVKEAKKKDK                                      631 - 666
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Text Mined References (39)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26003402 2015 Recurrent null mutation in SPG20 leads to Troyer syndrome.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25942454 2015 Chromosome mis-segregation and cytokinesis failure in trisomic human cells.
24381142 2014 Detection of aberrant hypermethylated spastic paraplegia-20 as a potential biomarker and prognostic factor in gastric cancer.
23439121 2013 Spartin regulates synaptic growth and neuronal survival by inhibiting BMP-mediated microtubule stabilization.
23372428 2013 Detection of hypermethylated spastic paraplegia-20 in stool samples of patients with colorectal cancer.
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.
21559443 2011 SPG20 protein spartin associates with cardiolipin via its plant-related senescence domain and regulates mitochondrial Ca2+ homeostasis.
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