ZFYVE27
| Zinc finger, FYVE domain containing 27 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | ZFYVE27 ; PROTRUDIN; SPG33 | ||||||||||||
| External IDs | OMIM: 610243 HomoloGene: 16939 GeneCards: ZFYVE27 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 118813 | 319740 | |||||||||||
| Ensembl | ENSG00000155256 | ENSMUSG00000018820 | |||||||||||
| UniProt | Q5T4F4 | Q3TXX3 | |||||||||||
| RefSeq (mRNA) | NM_001002261 | NM_001164531 | |||||||||||
| RefSeq (protein) | NP_001002261 | NP_001158003 | |||||||||||
| Location (UCSC) |
Chr 10: 97.74 – 97.76 Mb |
Chr 19: 42.16 – 42.19 Mb | |||||||||||
| PubMed search | |||||||||||||
Zinc finger, FYVE domain containing 27 is a protein that in humans is encoded by the ZFYVE27 gene. [1]
Function
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 Neuriteformation. 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
- ↑ "Entrez Gene: Zinc finger, FYVE domain containing 27". Retrieved 2014-02-23.
Further reading
- Zhang, C; Li, D; Ma, Y; Yan, J; Yang, B; Li, P; Yu, A; Lu, C; Ma, X (2012). "Role of spastin and protrudin in neurite outgrowth". Journal of Cellular Biochemistry 113 (7): 2296–307. doi:10.1002/jcb.24100. PMID 22573551.
- Saita, S; Shirane, M; Natume, T; Iemura, S; Nakayama, K. I. (2009). "Promotion of neurite extension by protrudin requires its interaction with vesicle-associated membrane protein-associated protein". Journal of Biological Chemistry 284 (20): 13766–77. doi:10.1074/jbc.M807938200. PMC 2679478. PMID 19289470.
- Mannan, A. U.; Krawen, P; Sauter, S. M.; Boehm, J; Chronowska, A; Paulus, W; Neesen, J; Engel, W (2006). "ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia". The American Journal of Human Genetics 79 (2): 351–7. doi:10.1086/504927. PMC 1559503. PMID 16826525.
- Martignoni, M; Riano, E; Rugarli, E. I. (2008). "The role of ZFYVE27/protrudin in hereditary spastic paraplegia". The 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, K. I. (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, K. I. (2006). "Protrudin induces neurite formation by directional membrane trafficking". Science 314 (5800): 818–21. doi:10.1126/science.1134027. PMID 17082457.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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