SNX5

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

SNX5
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSNX5, sorting nexin 5
External IDsOMIM: 605937 MGI: 1916428 HomoloGene: 40944 GeneCards: SNX5
Gene location (Human)
Chr.Chromosome 20 (human)[1]
Band20p11.23Start17,941,597 bp[1]
End17,968,980 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

27131

69178

Ensembl

ENSG00000089006

ENSMUSG00000027423

UniProt

Q9Y5X3
Q5QPE4

Q9D8U8

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 MbChr 2: 144.25 – 144.27 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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

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

References

  1. GRCh38: Ensembl release 89: ENSG00000089006 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000027423 - 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. 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. 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. "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. 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. S2CID 85911512.
  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 3572410. 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. S2CID 18872015.
  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 3218837. PMID 21722353.

Further reading



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