| 释义 |
- Model organisms
- Interactions
- References
- Further reading
{{Infobox_gene}}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 Snx5 knockout mouse phenotype| Characteristic | Phenotype |
|---|
| Homozygote viability | Normal | | Body weight | Normal | | Anxiety | Normal | | Neurological assessment | Normal | | Grip strength | Normal | | Hot plate | Normal | | Dysmorphology | Normal | | Indirect calorimetry | Normal | | Glucose tolerance test | Normal | | Auditory brainstem response | Normal | | DEXA | Normal | | Radiography | Normal | | Body temperature | Normal | | Eye morphology | Normal | | Clinical chemistry | Normal | | Plasma immunoglobulins | Normal | | Haematology | Normal[4] | | Peripheral blood lymphocytes | Normal | | Micronucleus test | Normal | | Heart weight | Normal | | Skin Histopathology | Normal | | Brain histopathology | Normal | | Eye Histopathology | Normal | | Salmonella infection | Normal[5] | | Citrobacter infection | Normal[6] | | All tests and analysis from[7][8] | 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]InteractionsSNX5 has been shown to interact with FANCA.[1] References1. ^1 {{cite journal |author1=Otsuki T |author2=Kajigaya S |author3=Ozawa K |author4=Liu JM | title = SNX5, a new member of the sorting nexin family, binds to the Fanconi anemia complementation group A protein | journal = Biochem Biophys Res Commun | volume = 265 | issue = 3 | pages = 630–5 |date=Jan 2000 | pmid = 10600472 | pmc = | doi = 10.1006/bbrc.1999.1731 }}
2. ^1 {{cite journal |author1=Wassmer T |author2=Attar N |author3=Bujny MV |author4=Oakley J |author5=Traer CJ |author6=Cullen PJ | title = A loss-of-function screen reveals SNX5 and SNX6 as potential components of the mammalian retromer | journal = J Cell Sci | volume = 120 | issue = Pt 1 | pages = 45–54 |date=Dec 2006 | pmid = 17148574 | pmc = | doi = 10.1242/jcs.03302 }}
3. ^1 {{cite web | title = Entrez Gene: SNX5 sorting nexin 5| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27131| accessdate = }}
4. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAJG/haematology-cbc/ |title=Haematology data for Snx5 |publisher=Wellcome Trust Sanger Institute}}
5. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAJG/salmonella-challenge/ |title=Salmonella infection data for Snx5 |publisher=Wellcome Trust Sanger Institute}}
6. ^{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAJG/citrobacter-challenge/ |title=Citrobacter infection data for Snx5 |publisher=Wellcome Trust Sanger Institute}}
7. ^1 2 {{cite journal| doi = 10.1111/j.1755-3768.2010.4142.x| title = The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice| year = 2010| author = Gerdin AK| journal = Acta Ophthalmologica| volume = 88| issue = S248 | pages = 0}}
8. ^Mouse Resources Portal, Wellcome Trust Sanger Institute.
9. ^{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Snx5 |title=International Knockout Mouse Consortium}}
10. ^{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4362512 |title=Mouse Genome Informatics}}
11. ^{{Cite journal| last1 = Skarnes |first1 =W. C.| doi = 10.1038/nature10163 | last2 = Rosen | first2 = B.| last3 = West | first3 = A. P.| last4 = Koutsourakis | first4 = M.| last5 = Bushell | first5 = W.| last6 = Iyer | first6 = V.| last7 = Mujica | first7 = A. O.| last8 = Thomas | first8 = M.| last9 = Harrow | first9 = J.| last10 = Cox | first10 = T.| last11 = Jackson | first11 = D.| last12 = Severin | first12 = J.| last13 = Biggs | first13 = P.| last14 = Fu | first14 = J.| last15 = Nefedov | first15 = M.| last16 = De Jong | first16 = P. J.| last17 = Stewart | first17 = A. F.| last18 = Bradley | first18 = A. | title = A conditional knockout resource for the genome-wide study of mouse gene function | journal = Nature | volume = 474 | issue = 7351 | pages = 337–342 | year = 2011 | pmid = 21677750 | pmc =3572410 }}
12. ^{{cite journal |author=Dolgin E |title=Mouse library set to be knockout |journal=Nature |volume=474 |issue=7351 |pages=262–3 |date=June 2011 |pmid=21677718 |doi=10.1038/474262a }}
13. ^{{cite journal |author1=Collins FS |author2=Rossant J |author3=Wurst W |title=A mouse for all reasons |journal=Cell |volume=128 |issue=1 |pages=9–13 |date=January 2007 |pmid=17218247 |doi=10.1016/j.cell.2006.12.018 }}
14. ^{{cite journal|author1=van der Weyden L |author2=White JK |author3=Adams DJ |author4=Logan DW | title=The mouse genetics toolkit: revealing function and mechanism. | journal=Genome Biol | year= 2011 | volume= 12 | issue= 6 | pages= 224 | pmid=21722353 | doi=10.1186/gb-2011-12-6-224 | pmc=3218837}}
Further reading{{refbegin | 2}}- {{cite journal |author1=Maruyama K |author2=Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}
- {{cite journal |vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, etal |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3 }}
- {{cite journal |vauthors=Teasdale RD, Loci D, Houghton F, etal |title=A large family of endosome-localized proteins related to sorting nexin 1 |journal=Biochem. J. |volume=358 |issue= Pt 1 |pages= 7–16 |year= 2001 |pmid= 11485546 |doi=10.1042/0264-6021:3580007 | pmc=1222026 }}
- {{cite journal |vauthors=Deloukas P, Matthews LH, Ashurst J, etal |title=The DNA sequence and comparative analysis of human chromosome 20 |journal=Nature |volume=414 |issue= 6866 |pages= 865–71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
- {{cite journal |vauthors=Towler MC, Gleeson PA, Hoshino S, etal |title=Clathrin Isoform CHC22, a Component of Neuromuscular and Myotendinous Junctions, Binds Sorting Nexin 5 and Has Increased Expression during Myogenesis and Muscle Regeneration |journal=Mol. Biol. Cell |volume=15 |issue= 7 |pages= 3181–95 |year= 2005 |pmid= 15133132 |doi= 10.1091/mbc.E04-03-0249 | pmc=452575 }}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
- {{cite journal |vauthors=Merino-Trigo A, Kerr MC, Houghton F, etal |title=Sorting nexin 5 is localized to a subdomain of the early endosomes and is recruited to the plasma membrane following EGF stimulation |journal=J. Cell Sci. |volume=117 |issue= Pt 26 |pages= 6413–24 |year= 2005 |pmid= 15561769 |doi= 10.1242/jcs.01561 }}
- {{cite journal |vauthors=Rual JF, Venkatesan K, Hao T, etal |title=Towards a proteome-scale map of the human protein-protein interaction network |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
{{refend}}{{Sorting nexins}}{{gene-20-stub}} 1 : Genes mutated in mice |