This gene encodes a protein with several Transmembrane domains, a Rab11-binding domain and a lipid-binding FYVE finger domain. The encoded protein appears to promote Neurite formation. A mutation in this gene has been reported to be associated with Hereditary spastic paraplegia, however the Pathogenicity of the mutation, which may simply represent a Polymorphism (biology), is unclear. [provided by RefSeq, Mar 2010].
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000155256 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000018820 - 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.
Zhang C, Li D, Ma Y, Yan J, Yang B, Li P, Yu A, Lu C, Ma X (July 2012). "Role of spastin and protrudin in neurite outgrowth". Journal of Cellular Biochemistry. 113 (7): 2296–307. doi:10.1002/jcb.24100. PMID 22573551. S2CID 25893328.
Saita S, Shirane M, Natume T, Iemura S, Nakayama KI (May 2009). "Promotion of neurite extension by protrudin requires its interaction with vesicle-associated membrane protein-associated protein". The Journal of Biological Chemistry. 284 (20): 13766–77. doi:10.1074/jbc.M807938200. PMC2679478. PMID 19289470.
Mannan AU, Krawen P, Sauter SM, Boehm J, Chronowska A, Paulus W, Neesen J, Engel W (August 2006). "ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia". American Journal of Human Genetics. 79 (2): 351–7. doi:10.1086/504927. PMC1559503. PMID 16826525.
Martignoni M, Riano E, Rugarli EI (July 2008). "The role of ZFYVE27/protrudin in hereditary spastic paraplegia". American Journal of Human Genetics. 83 (1): 127–8, author reply 128–30. doi:10.1016/j.ajhg.2008.05.014. PMC2443834. PMID 18606302.
Matsuzaki F, Shirane M, Matsumoto M, Nakayama KI (December 2011). "Protrudin serves as an adaptor molecule that connects KIF5 and its cargoes in vesicular transport during process formation". Molecular Biology of the Cell. 22 (23): 4602–20. doi:10.1091/mbc.E11-01-0068. PMC3226478. PMID 21976701.
Shirane M, Nakayama KI (November 2006). "Protrudin induces neurite formation by directional membrane trafficking". Science. 314 (5800): 818–21. Bibcode:2006Sci...314..818S. doi:10.1126/science.1134027. PMID 17082457. S2CID 1728286.
zfyve27, zinc, finger, fyve, domain, containing, protein, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes1x4uidentifiersaliases, protrudin, spg33, zinc, finger, fyve, type, containing, 27external, idsomim, 610243, 1. Zinc finger FYVE domain containing 27 is a protein that in humans is encoded by the ZFYVE27 gene 5 ZFYVE27Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes1X4UIdentifiersAliasesZFYVE27 PROTRUDIN SPG33 zinc finger FYVE type containing 27External IDsOMIM 610243 MGI 1919602 HomoloGene 16939 GeneCards ZFYVE27Gene location Human Chr Chromosome 10 human 1 Band10q24 2Start97 737 121 bp 1 End97 760 907 bp 1 Gene location Mouse Chr Chromosome 19 mouse 2 Band19 19 C3Start42 152 390 bp 2 End42 183 029 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inpancreatic ductal cellright uterine tubeanterior pituitarytibial nerveBrodmann area 9canal of the cervixbody of pancreasminor salivary glandright lobe of thyroid glandbody of stomachTop expressed insubstantia nigrasuperior frontal gyrusvisual cortextrigeminal ganglionfacial motor nucleuscerebellar cortexspermatocyteretinal pigment epitheliumfossalipMore reference expression dataBioGPSn aGene ontologyMolecular functionprotein binding metal ion binding protein self associationCellular componentcytoplasm integral component of membrane axon endosome recycling endosome membrane growth cone membrane dendrite plasma membrane cell projection endoplasmic reticulum membrane endoplasmic reticulum membrane integral component of endoplasmic reticulum membrane endoplasmic reticulum tubular network nucleoplasm cytosolBiological processprotein localization to plasma membrane neuron projection development neurotrophin TRK receptor signaling pathway vesicle mediated transport positive regulation of axon extension endoplasmic reticulum tubular network formationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez118813319740EnsemblENSG00000155256ENSMUSG00000018820UniProtQ5T4F4Q3TXX3RefSeq mRNA NM 001002261NM 001002262NM 001174119NM 001174120NM 001174121NM 001174122NM 144588NM 001164531NM 177319RefSeq protein NP 001002261NP 001002262NP 001167590NP 001167591NP 001167592NP 001167593NP 653189NP 001158003NP 796293Location UCSC Chr 10 97 74 97 76 MbChr 19 42 15 42 18 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseFunction editThis gene encodes a protein with several Transmembrane domains a Rab11 binding domain and a lipid binding FYVE finger domain The encoded protein appears to promote Neurite formation A mutation in this gene has been reported to be associated with Hereditary spastic paraplegia however the Pathogenicity of the mutation which may simply represent a Polymorphism biology is unclear provided by RefSeq Mar 2010 References edit a b c GRCh38 Ensembl release 89 ENSG00000155256 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000018820 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 Entrez Gene Zinc finger FYVE domain containing 27 Further reading editZhang C Li D Ma Y Yan J Yang B Li P Yu A Lu C Ma X July 2012 Role of spastin and protrudin in neurite outgrowth Journal of Cellular Biochemistry 113 7 2296 307 doi 10 1002 jcb 24100 PMID 22573551 S2CID 25893328 Saita S Shirane M Natume T Iemura S Nakayama KI May 2009 Promotion of neurite extension by protrudin requires its interaction with vesicle associated membrane protein associated protein The Journal of Biological Chemistry 284 20 13766 77 doi 10 1074 jbc M807938200 PMC 2679478 PMID 19289470 Mannan AU Krawen P Sauter SM Boehm J Chronowska A Paulus W Neesen J Engel W August 2006 ZFYVE27 SPG33 a novel spastin binding protein is mutated in hereditary spastic paraplegia American Journal of Human Genetics 79 2 351 7 doi 10 1086 504927 PMC 1559503 PMID 16826525 Martignoni M Riano E Rugarli EI July 2008 The role of ZFYVE27 protrudin in hereditary spastic paraplegia American Journal of Human Genetics 83 1 127 8 author reply 128 30 doi 10 1016 j ajhg 2008 05 014 PMC 2443834 PMID 18606302 Matsuzaki F Shirane M Matsumoto M Nakayama KI December 2011 Protrudin serves as an adaptor molecule that connects KIF5 and its cargoes in vesicular transport during process formation Molecular Biology of the Cell 22 23 4602 20 doi 10 1091 mbc E11 01 0068 PMC 3226478 PMID 21976701 Shirane M Nakayama KI November 2006 Protrudin induces neurite formation by directional membrane trafficking Science 314 5800 818 21 Bibcode 2006Sci 314 818S doi 10 1126 science 1134027 PMID 17082457 S2CID 1728286 This article incorporates text from the United States National Library of Medicine which is in the public domain nbsp This article on a gene on human chromosome 10 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title ZFYVE27 amp oldid 1116602173, wikipedia, wiki, book, books, library,
