SPG11

SPG11
Identifiers
AliasesSPG11, KIAA1840, ALS5, CMT2X, spastic paraplegia 11 (autosomal recessive), spatacsin vesicle trafficking associated
External IDsMGI: 2444989 HomoloGene: 41614 GeneCards: SPG11
Gene location (Human)
Chr.Chromosome 15 (human)[1]
Band15q21.1Start44,562,696 bp[1]
End44,663,678 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

80208

214585

Ensembl

ENSG00000104133

ENSMUSG00000033396

UniProt

Q96JI7

Q3UHA3

RefSeq (mRNA)

NM_001160227
NM_025137

NM_145531
NM_172533

RefSeq (protein)

NP_001153699
NP_079413

NP_663506

Location (UCSC)Chr 15: 44.56 – 44.66 MbChr 2: 122.05 – 122.12 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Spatacsin is a protein that in humans is encoded by the SPG11 gene.[5][6][7]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000104133 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000033396 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ Martínez Murillo F, Kobayashi H, Pegoraro E, Galluzzi G, Creel G, Mariani C, Farina E, Ricci E, Alfonso G, Pauli RM, Hoffman EP (July 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.
  6. ↑ 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 (March 2007). "Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum". Nature Genetics. 39 (3): 366–72. doi:10.1038/ng1980. PMID 17322883.
  7. ↑ "Entrez Gene: KIAA1840 KIAA1840".

Further reading

  • Hehr U, Bauer P, Winner B, Schule R, Olmez A, Koehler W, Uyanik G, Engel A, Lenz D, Seibel A, Hehr A, Ploetz S, Gamez J, Rolfs A, Weis J, Ringer TM, Bonin M, Schuierer G, Marienhagen J, Bogdahn U, Weber BH, Topaloglu H, Schols L, Riess O, Winkler J (December 2007). "Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia". Annals of Neurology. 62 (6): 656–65. doi:10.1002/ana.21310. PMID 18067136.
  • Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O (April 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 Research. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 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 (June 1994). "Induction of heat-stable enterotoxin receptor activity by a human Alu repeat". The Journal of Biological Chemistry. 269 (24): 16610–7. PMID 8206979.
  • Maruyama K, Sugano S (January 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.
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