SNX5

SNX5
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1SYS
Identifiers
Aliases	SNX5 , sorting nexin 5
External IDs	OMIM: 605937 MGI: 1916428 HomoloGene: 40944 GeneCards: SNX5
Gene location (Human) Chr. Chromosome 20 (human) [1] Band 20p11.23 Start 17,941,597 bp [1] End 17,968,980 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2 G1|2 70.98 cM Start 144,092,043 bp [2] End 144,112,826 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left lobe of thyroid gland right lobe of thyroid gland Achilles tendon rectum spleen corpus epididymis secondary oocyte lymph node kidney monocyte Top expressed in abdominal wall dermis maxillary prominence somite endocardial cushion primitive streak atrioventricular valve cervix spleen morula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function dynactin binding protein binding phosphatidylinositol binding protein heterodimerization activity lipid binding cadherin binding phosphatidylinositol-5-phosphate binding D1 dopamine receptor binding phosphatidylinositol-4-phosphate binding phosphatidylinositol-3,5-bisphosphate binding Cellular component cytoplasm endosome cell projection early endosome membrane retromer, tubulation complex membrane ruffle extrinsic component of cytoplasmic side of plasma membrane plasma membrane extrinsic component of endosome membrane tubular endosome retromer complex early endosome phagocytic cup cytoplasmic vesicle membrane macropinocytic cup cytoplasmic vesicle cytosol brush border intracellular anatomical structure Biological process endocytosis vesicle organization retrograde transport, endosome to Golgi protein transport pinocytosis intracellular protein transport regulation of macroautophagy epidermal growth factor catabolic process positive regulation of renal sodium excretion negative regulation of blood pressure Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 2: 144.09 – 144.11 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

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 [8]
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
Eye Histopathology	Normal
Salmonella infection	Normal [9]
Citrobacter infection	Normal [10]
All tests and analysis from [11] [12]

Model organisms have been used in the study of SNX5 function. A conditional knockout mouse line, called Snx5^{tm1a(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

• Maruyama K; Sugano S (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.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (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.
• Teasdale RD, Loci D, Houghton F, et al. (2001). "A large family of endosome-localized proteins related to sorting nexin 1". Biochem. J. 358 (Pt 1): 7–16. doi:10.1042/0264-6021:3580007. PMC   1222026 . PMID   11485546.
• Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. Bibcode:2001Natur.414..865D. doi: 10.1038/414865a . PMID   11780052.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Towler MC, Gleeson PA, Hoshino S, et al. (2005). "Clathrin Isoform CHC22, a Component of Neuromuscular and Myotendinous Junctions, Binds Sorting Nexin 5 and Has Increased Expression during Myogenesis and Muscle Regeneration". Mol. Biol. Cell. 15 (7): 3181–95. doi:10.1091/mbc.E04-03-0249. PMC   452575 . PMID   15133132.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Merino-Trigo A, Kerr MC, Houghton F, et al. (2005). "Sorting nexin 5 is localized to a subdomain of the early endosomes and is recruited to the plasma membrane following EGF stimulation". J. Cell Sci. 117 (Pt 26): 6413–24. doi:10.1242/jcs.01561. PMID   15561769.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.