SPG11

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

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)[1] Band 15q21.1 Start 44,554,818 bp[1] End 44,663,688 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 E5 Start 121,884,001 bp[2] End 121,948,867 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse 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 Mb Chr 2: 121.88 – 121.95 Mb PubMed search [3] [4]
Wikidata
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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.