SPG11

Last updated
SPG11
Identifiers
Aliases SPG11 , KIAA1840, ALS5, CMT2X, spastic paraplegia 11 (autosomal recessive), spatacsin vesicle trafficking associated, SPG11 vesicle trafficking associated, spatacsin
External IDs OMIM: 610844 MGI: 2444989 HomoloGene: 41614 GeneCards: SPG11
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 Mb Chr 2: 121.88 – 121.95 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Contents

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.

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<span class="mw-page-title-main">ZFYVE26</span>

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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:". 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