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; HomoloGene: 41614; GeneCards: SPG11; OMA:SPG11 - orthologs
Gene location (Human)
Chromosome 15 (human)
Chr.Chromosome 15 (human)[1]
Chromosome 15 (human)
Genomic location for SPG11
Genomic location for SPG11
Band15q21.1Start44,554,818 bp[1]
End44,663,688 bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for SPG11
Genomic location for SPG11
Band2|2 E5Start121,884,001 bp[2]
End121,948,867 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
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

  • 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. S2CID 11979834.
  • 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. doi:10.1016/S0021-9258(19)89433-4. 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.

External links

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