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Spastin (SPAST)

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ADPSP; FSP2; SPG4; Spastic Paraplegia 4; Autosomal Dominant

Spastin (SPAST)
CCC C894
HGNC 11233
MGI 1858896
PubMed 10610178
UniProt Q9UBP0
Wiki Spastin
Spastin is member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis.
The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequences have not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Spastin (SPAST) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Spastin (SPAST) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Spastin (SPAST) Polyclonal Antibody Customized Service Offer
Assay Kits SEC894Hu ELISA Kit for Spastin (SPAST) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Spastin (SPAST) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Spastin (SPAST) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Spastin (SPAST) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Spastin (SPAST) CLIA Kit Customized Service Offer
n/a ELISA Kit for Spastin (SPAST) ELISA Kit Customized Service Offer
  1. "Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia."Nat. Genet. 23:296-303(1999) [PubMed] [Europe PMC] [Abstract]
  2. "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."DNA Res. 6:197-205(1999) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics."Hum. Mol. Genet. 11:153-163(2002) [PubMed] [Europe PMC] [Abstract]
  5. "The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia."Genomics 81:437-441(2003) [PubMed] [Europe PMC] [Abstract]
  6. "Identification of nuclear localisation sequences in spastin (SPG4) using a novel Tetra-GFP reporter system."Biochem. Biophys. Res. Commun. 318:1079-1084(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon."Hum. Mol. Genet. 13:2121-2132(2004) [PubMed] [Europe PMC] [Abstract]
  8. "Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus."Exp. Cell Res. 309:358-369(2005) [PubMed] [Europe PMC] [Abstract]
  9. "The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B."Hum. Mol. Genet. 14:19-38(2005) [PubMed] [Europe PMC] [Abstract]
  10. "Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing."J. Cell Biol. 168:599-606(2005) [PubMed] [Europe PMC] [Abstract]
  11. "Human spastin has multiple microtubule-related functions."J. Neurochem. 95:1411-1420(2005) [PubMed] [Europe PMC] [Abstract]
  12. "Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia."Neurogenetics 6:135-141(2005) [PubMed] [Europe PMC] [Abstract]
  13. "ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia."Am. J. Hum. Genet. 79:351-357(2006) [PubMed] [Europe PMC] [Abstract]
  14. "Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners."Hum. Mol. Genet. 15:307-318(2006) [PubMed] [Europe PMC] [Abstract]
  15. "Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein."Neurogenetics 7:93-103(2006) [PubMed] [Europe PMC] [Abstract]
  16. "Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance."Proc. Natl. Acad. Sci. U.S.A. 103:10666-10671(2006) [PubMed] [Europe PMC] [Abstract]
  17. "Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severing."J. Cell Biol. 176:995-1005(2007) [PubMed] [Europe PMC] [Abstract]
  18. "A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform."BMC Biol. 6:31-31(2008) [PubMed] [Europe PMC] [Abstract]
  19. "Spastin oligomerizes into a hexamer and the mutant spastin (E442Q) redistribute the wild-type spastin into filamentous microtubule."J. Neurochem. 106:613-624(2008) [PubMed] [Europe PMC] [Abstract]
  20. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  21. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  22. "Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion."Traffic 10:42-56(2009) [PubMed] [Europe PMC] [Abstract]
  23. "Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network."J. Clin. Invest. 120:1097-1110(2010) [PubMed] [Europe PMC] [Abstract]
  24. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  25. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  26. "Subunit Interactions and cooperativity in the microtubule-severing AAA ATPase spastin."J. Biol. Chem. 287:26278-26290(2012) [PubMed] [Europe PMC] [Abstract]
  27. "Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12." J. Clin. Invest. 122:538-544(2012) [PubMed] [Europe PMC] [Abstract]
  28. "Spastin's microtubule-binding properties and comparison to katanin."PLoS ONE 7:E50161-E50161(2012) [PubMed] [Europe PMC] [Abstract]
  29. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  30. "Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B."Nat. Struct. Mol. Biol. 15:1278-1286(2008) [PubMed] [Europe PMC] [Abstract]
  31. "Hereditary spastic paraplegia caused by mutations in the SPG4 gene."Eur. J. Hum. Genet. 8:771-776(2000) [PubMed] [Europe PMC] [Abstract]
  32. "Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia." Hum. Mol. Genet. 9:637-644(2000) [PubMed] [Europe PMC] [Abstract]
  33. "Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis."J. Med. Genet. 37:759-765(2000) [PubMed] [Europe PMC] [Abstract]
  34. "Novel mutations in spastin gene and absence of correlation with age at onset of symptoms."Neurology 55:1388-1390(2000) [PubMed] [Europe PMC] [Abstract]
  35. "Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia."Am. J. Hum. Genet. 68:1077-1085(2001) [PubMed] [Europe PMC] [Abstract]
  36. "A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severity."Acta Neurol. Scand. 106:387-391(2002) [PubMed] [Europe PMC] [Abstract]
  37. "Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia."Arch. Neurol. 59:281-286(2002) [PubMed] [Europe PMC] [Abstract]
  38. "Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia."Hum. Mutat. 20:127-132(2002) [PubMed] [Europe PMC] [Abstract]
  39. "Spastin gene mutation in Japanese with hereditary spastic paraplegia."J. Med. Genet. 39:E46-E46(2002) [PubMed] [Europe PMC] [Abstract]
  40. "Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia."J. Neurol. 249:200-205(2002) [PubMed] [Europe PMC] [Abstract]
  41. "Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia."J. Neurol. Sci. 201:65-69(2002) [PubMed] [Europe PMC] [Abstract]
  42. "A novel missense mutation (I344K) in the SPG4gene in a Korean family with autosomal-dominant hereditary spastic paraplegia."J. Hum. Genet. 47:473-477(2002) [PubMed] [Europe PMC] [Abstract]
  43. "Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene."Hum. Mutat. 21:170-170(2003) [PubMed] [Europe PMC] [Abstract]
  44. "Novel spastin mutations and their expression analysis in two Italian families."Eur. J. Hum. Genet. 11:710-713(2003) [PubMed] [Europe PMC] [Abstract]
  45. "Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia."Arch. Neurol. 61:49-55(2004) [PubMed] [Europe PMC] [Abstract]
  46. "Hereditary spastic paraplegia: clinical genetic study of 15 families."Arch. Neurol. 61:849-855(2004) [PubMed] [Europe PMC] [Abstract]
  47. "Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations."Neurogenetics 5:157-164(2004) [PubMed] [Europe PMC] [Abstract]
  48. "Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis."Neuromuscul. Disord. 14:750-753(2004) [PubMed] [Europe PMC] [Abstract]
  49. "A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts."Neurology 62:1875-1878(2004) [PubMed] [Europe PMC] [Abstract]
  50. "Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene."Neurology 63:710-712(2004) [PubMed] [Europe PMC] [Abstract]
  51. "Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia." Arch. Neurol. 63:750-755(2006) [PubMed] [Europe PMC] [Abstract]
  52. "Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia."Neuromuscul. Disord. 16:387-390(2006) [PubMed] [Europe PMC] [Abstract]
  53. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
  54. "Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia."Eur. J. Neurol. 14:809-814(2007) [PubMed] [Europe PMC] [Abstract]
  55. "Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements."BMC Neurol. 10:17-17(2010) [PubMed] [Europe PMC] [Abstract]
  56. "Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia."BMC Neurol. 10:89-89(2010) [PubMed] [Europe PMC] [Abstract]
  57. "Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations."J. Neurol. Neurosurg. Psych. 81:1073-1078(2010) [PubMed] [Europe PMC] [Abstract]
  58. "Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia."Clin. Genet. 79:523-530(2011) [PubMed] [Europe PMC] [Abstract]
  59. "Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia."Eur. J. Neurol. 18:150-157(2011) [PubMed] [Europe PMC] [Abstract]