SPG11

Spastic paraplegia 11 (autosomal recessive)
Identifiers
Symbols	SPG11 ; KIAA1840
External IDs	OMIM: 610844 HomoloGene: 41614 GeneCards: SPG11 Gene
Gene ontology Molecular function • protein binding Cellular component • nucleolus • cytoplasm • lysosomal membrane • cytosol • plasma membrane • integral component of membrane • cytoplasmic vesicle • extracellular exosome Biological process • cell death Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	80208	214585
Ensembl	ENSG00000104133	ENSMUSG00000033396
UniProt	Q96JI7	Q3UHA3
RefSeq (mRNA)	NM_001160227	NM_145531
RefSeq (protein)	NP_001153699	NP_663506
Location (UCSC)	Chr 15: 44.56 – 44.66 Mb	Chr 2: 122.05 – 122.12 Mb
PubMed search

Spatacsin is a protein that in humans is encoded by the SPG11 gene.^[1][2][3]

References

1. Martinez Murillo F, Kobayashi H, Pegoraro E, Galluzzi G, Creel G, Mariani C, Farina E, Ricci E, Alfonso G, Pauli RM, Hoffman EP (Aug 1999). "Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15". Neurology 53 (1): 50–6. doi:10.1212/wnl.53.1.50. PMID 10408536.
2. Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A (Feb 2007). "Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum". Nat Genet 39 (3): 366–72. doi:10.1038/ng1980. PMID 17322883.
3. "Entrez Gene: KIAA1840 KIAA1840".

External links

• GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia Type 11 SPG11-Related Hereditary Spastic Paraplegia with Thin Corpus Callosum

Further reading

• Hehr U, Bauer P, Winner B, et al. (2008). "Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia". Ann. Neurol. 62 (6): 656–65. doi:10.1002/ana.21310. PMID 18067136.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Nagase T, Nakayama M, Nakajima D, et al. (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". DNA Res. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Almenoff JS, Jurka J, Schoolnik GK (1994). "Induction of heat-stable enterotoxin receptor activity by a human Alu repeat". J. Biol. Chem. 269 (24): 16610–7. PMID 8206979.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.