SPG11

Spastic paraplegia 11 (autosomal recessive)

Identifiers

SPG11; DKFZp762B1512; FLJ21439; KIAA1840

External IDs

OMIM: 610844 HomoloGene: 41614 GeneCards: SPG11 Gene

Gene Ontology
Molecular function	• protein binding
Cellular component	• nucleus • cytoplasm • cytosol • membrane • integral to membrane
Biological process	• cell death
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

n/a

ENSG00000104133

n/a

n/a

RefSeq (mRNA)

n/a

RefSeq (protein)

n/a

Location (UCSC)

Chr 15:
44.85 – 44.96 Mb

n/a

PubMed search

n/a

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

External Links

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

References

^ 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. PMID 10408536.
^ 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.
^ "Entrez Gene: KIAA1840 KIAA1840". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80208.

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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
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.