SNX5

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SNX5
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases SNX5, sorting nexin 5
External IDs MGI: 1916428 HomoloGene: 40944 GeneCards: SNX5
Gene location (Human)
Chromosome 20 (human)
Chr. Chromosome 20 (human)[1]
Chromosome 20 (human)
Genomic location for SNX5
Genomic location for SNX5
Band 20p11.23 Start 17,941,597 bp[1]
End 17,968,980 bp[1]
RNA expression pattern
PBB GE SNX5 217792 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_152227
NM_001282454
NM_014426

NM_001199188
NM_024225

RefSeq (protein)

NP_001269383
NP_055241
NP_689413

NP_001186117
NP_077187

Location (UCSC) Chr 20: 17.94 – 17.97 Mb Chr 20: 144.25 – 144.27 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Sorting nexin-5 is a protein that in humans is encoded by the SNX5 gene.[5][6][7]

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,[6] 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.[7]

Model organisms[edit]

Model organisms have been used in the study of SNX5 function. A conditional knockout mouse line, called Snx5tm1a(KOMP)Wtsi[13][14] 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.[15][16][17] Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[11][18] Twenty five tests were carried out on homozygous mutant adult mice, however no significant abnormalities were observed.[11]

Interactions[edit]

SNX5 has been shown to interact with FANCA.[5]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000089006 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027423 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. 
  6. ^ 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. 
  7. ^ a b "Entrez Gene: SNX5 sorting nexin 5". 
  8. ^ "Haematology data for Snx5". Wellcome Trust Sanger Institute. 
  9. ^ "Salmonella infection data for Snx5". Wellcome Trust Sanger Institute. 
  10. ^ "Citrobacter infection data for Snx5". Wellcome Trust Sanger Institute. 
  11. ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248): 0. doi:10.1111/j.1755-3768.2010.4142.x. 
  12. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  13. ^ "International Knockout Mouse Consortium". 
  14. ^ "Mouse Genome Informatics". 
  15. ^ 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 3572410Freely accessible. PMID 21677750. 
  16. ^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  17. ^ 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. 
  18. ^ 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 3218837Freely accessible. PMID 21722353. 

Further reading[edit]