SPG11

SPG11
Identifiers
AliasesSPG11, KIAA1840, ALS5, CMT2X, spastic paraplegia 11 (autosomal recessive), spatacsin vesicle trafficking associated, SPG11 vesicle trafficking associated, spatacsin
External IDsOMIM: 610844; MGI: 2444989; GeneCards: SPG11
Orthologs
DatabasesNCBI: entry; OMA: entry
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: 44.55 – 44.66 MbChr 2: 121.88 – 121.95 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]

Function

Spatacsin, in combination with the SPG15 protein, attaches the AP5 adaptor complex to the outside of late Endosomes or Lysosomes when the protein via which it binds is in a particular state.[8]

Pathology

Mutations of the SPG11 gene cause a rare form of spastic paraplegia, spastic paraplegia type 11.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000104133 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033396 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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. S2CID 26987441.
  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. S2CID 970017.
  7. ^ "Entrez Gene: KIAA1840 KIAA1840".
  8. ^ Hirst, Jennifer; Hesketh, Geoffrey G.; Gingras, Anne-Claude; Robinson, Margaret S. (2021-02-01). "Rag GTPases and phosphatidylinositol 3-phosphate mediate recruitment of the AP-5/SPG11/SPG15 complex". The Journal of Cell Biology. 220 (2) e202002075. doi:10.1083/jcb.202002075. ISSN 1540-8140. PMC 7814351. PMID 33464297.

Further reading

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