SNX5

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Sorting nexin 5
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols SNX5 ; FLJ10931
External IDs OMIM605937 MGI1916428 HomoloGene40944 GeneCards: SNX5 Gene
RNA expression pattern
PBB GE SNX5 217792 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 27131 69178
Ensembl ENSG00000089006 ENSMUSG00000027423
UniProt Q9Y5X3 Q9D8U8
RefSeq (mRNA) NM_014426 NM_001199188
RefSeq (protein) NP_055241 NP_001186117
Location (UCSC) Chr 20:
17.92 – 17.95 Mb
Chr 2:
144.25 – 144.27 Mb
PubMed search [1] [2]

Sorting nexin-5 is a protein that in humans is encoded by the SNX5 gene.[1][2][3]

This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein is a component of the mammalian retromer complex,[2] which facilitates cargo retrieval from endosomes to the trans-Golgi network. It has also been shown to bind to the Fanconi anemia, complementation group A protein. This gene results in two transcript variants encoding the same protein.[3]

Model organisms[edit]

Model organisms have been used in the study of SNX5 function. A conditional knockout mouse line, called Snx5tm1a(KOMP)Wtsi[9][10] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.[11][12][13]Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[7][14] Twenty five tests were carried out on homozygous mutant adult mice, however no significant abnormalities were observed.[7]

Interactions[edit]

SNX5 has been shown to interact with FANCA.[1]

References[edit]

  1. ^ a b Otsuki T, Kajigaya S, Ozawa K, Liu JM (Jan 2000). "SNX5, a new member of the sorting nexin family, binds to the Fanconi anemia complementation group A protein". Biochem Biophys Res Commun 265 (3): 630–5. doi:10.1006/bbrc.1999.1731. PMID 10600472. 
  2. ^ a b Wassmer T, Attar N, Bujny MV, Oakley J, Traer CJ, Cullen PJ (Dec 2006). "A loss-of-function screen reveals SNX5 and SNX6 as potential components of the mammalian retromer". J Cell Sci 120 (Pt 1): 45–54. doi:10.1242/jcs.03302. PMID 17148574. 
  3. ^ a b "Entrez Gene: SNX5 sorting nexin 5". 
  4. ^ "Haematology data for Snx5". Wellcome Trust Sanger Institute. 
  5. ^ "Salmonella infection data for Snx5". Wellcome Trust Sanger Institute. 
  6. ^ "Citrobacter infection data for Snx5". Wellcome Trust Sanger Institute. 
  7. ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. 
  8. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  9. ^ "International Knockout Mouse Consortium". 
  10. ^ "Mouse Genome Informatics". 
  11. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.  edit
  12. ^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  13. ^ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  14. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. 

Further reading[edit]