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 does not contain a coiled coil region, like most family members. This protein interacts with phosphatidylinositol-3-phosphate, and is involved in protein trafficking.[6]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000112335 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000019804 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Haft CR, de la Luz Sierra M, Barr VA, Haft DH, Taylor SI (Dec 1998). "Identification of a Family of Sorting Nexin Molecules and Characterization of Their Association with Receptors". Mol Cell Biol. 18 (12): 7278–87. doi:10.1128/mcb.18.12.7278. PMC109309. PMID 9819414.
Parks WT, Frank DB, Huff C, et al. (2001). "Sorting nexin 6, a novel SNX, interacts with the transforming growth factor-beta family of receptor serine-threonine kinases". J. Biol. Chem. 276 (22): 19332–9. doi:10.1074/jbc.M100606200. PMID 11279102.
Xu Y, Hortsman H, Seet L, et al. (2001). "SNX3 regulates endosomal function through its PX-domain-mediated interaction with PtdIns(3)P". Nat. Cell Biol. 3 (7): 658–66. doi:10.1038/35083051. PMID 11433298. S2CID 32893219.
Vervoort VS, Viljoen D, Smart R, et al. (2003). "Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype". J. Med. Genet. 39 (12): 893–9. doi:10.1136/jmg.39.12.893. PMC1757218. PMID 12471201.
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. PMC139241. PMID 12477932.
Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801. S2CID 23783563.
Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. Bibcode:2003Natur.425..805M. doi:10.1038/nature02055. PMID 14574404.
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. PMC528928. PMID 15489334.
Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243. S2CID 14294292.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
Kumar RA, Everman DB, Morgan CT, et al. (2007). "Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes". BMC Med. Genet. 8: 48. doi:10.1186/1471-2350-8-48. PMC1950490. PMID 17655765.
This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.
snx3, sorting, nexin, protein, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes2yps, 2mxcidentifiersaliases, grd19, mcops8, sdp3, sorting, nexin, 3external, idsomim, 605930, 1860188, homologene, 36144, genecards, ort. Sorting nexin 3 is a protein that in humans is encoded by the SNX3 gene 5 6 SNX3Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes2YPS 2MXCIdentifiersAliasesSNX3 Grd19 MCOPS8 SDP3 sorting nexin 3External IDsOMIM 605930 MGI 1860188 HomoloGene 36144 GeneCards SNX3 OMA SNX3 orthologsGene location Human Chr Chromosome 6 human 1 Band6q21Start108 211 222 bp 1 End108 261 246 bp 1 Gene location Mouse Chr Chromosome 10 mouse 2 Band10 B2 10 22 89 cMStart42 378 026 bp 2 End42 411 377 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed intrabecular bonemiddle temporal gyrusvisceral pleuraparietal pleuraendothelial cellright ventriclegerminal epitheliumparotid glandBrodmann area 23Brodmann area 46Top expressed inpyloric antrumyolk saccalvariaplantaris musclefacial motor nucleusentorhinal cortexinterventricular septumextraocular muscleepithelium of stomachanterior horn of spinal cordMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionphosphatidylinositol 3 phosphate binding phosphatidylinositol 3 5 bisphosphate binding phosphatidylinositol 4 phosphate binding phosphatidylinositol 5 phosphate binding protein binding phosphatidylinositol binding protein phosphatase binding lipid binding phosphatidylinositol phosphate bindingCellular componentcytoplasm cytosol endosome early endosome membrane early phagosome retromer complex early endosome phagocytic vesicle extracellular exosome cytoplasmic vesicle clathrin coated vesicle extrinsic component of membrane endosome membraneBiological processprotein to membrane docking negative regulation of viral entry into host cell negative regulation of phagocytosis response to bacterium negative regulation of protein catabolic process negative regulation of early endosome to late endosome transport membrane invagination regulation of Wnt signaling pathway intralumenal vesicle formation negative regulation of protein transport positive regulation of neuron projection development protein transport Wnt signaling pathway protein deubiquitination transportSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez872454198EnsemblENSG00000112335ENSMUSG00000019804UniProtO60493O70492RefSeq mRNA NM 152828NM 001300928NM 001300929NM 003795NM 152827NM 017472RefSeq protein NP 001287857NP 001287858NP 003786NP 690040n aLocation UCSC Chr 6 108 21 108 26 MbChr 10 42 38 42 41 MbPubMed search 3 4 WikidataView 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 does not contain a coiled coil region like most family members This protein interacts with phosphatidylinositol 3 phosphate and is involved in protein trafficking 6 References edit a b c GRCh38 Ensembl release 89 ENSG00000112335 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000019804 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Haft CR de la Luz Sierra M Barr VA Haft DH Taylor SI Dec 1998 Identification of a Family of Sorting Nexin Molecules and Characterization of Their Association with Receptors Mol Cell Biol 18 12 7278 87 doi 10 1128 mcb 18 12 7278 PMC 109309 PMID 9819414 a b Entrez Gene SNX3 sorting nexin 3 Further reading editParks WT Frank DB Huff C et al 2001 Sorting nexin 6 a novel SNX interacts with the transforming growth factor beta family of receptor serine threonine kinases J Biol Chem 276 22 19332 9 doi 10 1074 jbc M100606200 PMID 11279102 Xu Y Hortsman H Seet L et al 2001 SNX3 regulates endosomal function through its PX domain mediated interaction with PtdIns 3 P Nat Cell Biol 3 7 658 66 doi 10 1038 35083051 PMID 11433298 S2CID 32893219 Vervoort VS Viljoen D Smart R et al 2003 Sorting nexin 3 SNX3 is disrupted in a patient with a translocation t 6 13 q21 q12 and microcephaly microphthalmia ectrodactyly prognathism MMEP phenotype J Med Genet 39 12 893 9 doi 10 1136 jmg 39 12 893 PMC 1757218 PMID 12471201 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 Gevaert K Goethals M Martens L et al 2004 Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N terminal peptides Nat Biotechnol 21 5 566 9 doi 10 1038 nbt810 PMID 12665801 S2CID 23783563 Mungall AJ Palmer SA Sims SK et al 2003 The DNA sequence and analysis of human chromosome 6 Nature 425 6960 805 11 Bibcode 2003Natur 425 805M doi 10 1038 nature02055 PMID 14574404 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 Beausoleil SA Villen J Gerber SA et al 2006 A probability based approach for high throughput protein phosphorylation analysis and site localization Nat Biotechnol 24 10 1285 92 doi 10 1038 nbt1240 PMID 16964243 S2CID 14294292 Olsen JV Blagoev B Gnad F et al 2006 Global in vivo and site specific phosphorylation dynamics in signaling networks Cell 127 3 635 48 doi 10 1016 j cell 2006 09 026 PMID 17081983 S2CID 7827573 Kumar RA Everman DB Morgan CT et al 2007 Absence of mutations in NR2E1 and SNX3 in five patients with MMEP microcephaly microphthalmia ectrodactyly and prognathism and related phenotypes BMC Med Genet 8 48 doi 10 1186 1471 2350 8 48 PMC 1950490 PMID 17655765 nbsp This article on a gene on human chromosome 6 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title SNX3 amp oldid 1188047726, wikipedia, wiki, book, books, 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