SPG11

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; OMA:SPG11 - orthologs
Gene location (Human)
Chr.	Chromosome 15 (human)
End	44,663,688 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	121,948,867 bp
RNA expression pattern
	Top expressed in
	bronchial epithelial cell; ; granulocyte; ; Achilles tendon; ; epithelium of nasopharynx; ; skin of thigh; ; epithelium of colon; ; corpus callosum; ; pylorus; ; spleen; ; right lobe of thyroid gland;
	Top expressed in
	granulocyte; ; spermatocyte; ; ascending aorta; ; tail of embryo; ; genital tubercle; ; aortic valve; ; ventricular zone; ; spermatid; ; yolk sac; ; lip;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	protein binding;
Cellular component	cytoplasm; axon; lysosomal membrane; plasma membrane; dendrite; nucleolus; extracellular exosome; cytoplasmic vesicle; nucleus; cell projection; synapse; cytosol;
Biological process	axon extension; chemical synaptic transmission; synaptic vesicle transport; axo-dendritic transport; lysosome organization; phagosome-lysosome fusion involved in apoptotic cell clearance; walking behavior;
	Sources:Amigo / QuickGO
Orthologs
	80208
	214585
	ENSG00000104133
	ENSMUSG00000033396
	Q96JI7
	Q3UHA3
	NM_001160227; NM_025137
	NM_145531; NM_172533
	NP_001153699; NP_079413
	NP_663506
	Wikidata
View/Edit Human	View/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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000104133 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000033396 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ "Entrez Gene: KIAA1840 KIAA1840".
^ 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.

External links

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

This article on a gene on human chromosome 15 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000104133 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[pmid10408536-5] 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.

[pmid17322883-6] 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.

[entrez-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.

[1]

Function

Pathology

References

Further reading

External links