Protein-coding gene in the species Homo sapiens
ZFYVE27 |
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Available structures |
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PDB | Ortholog search: PDBe RCSB |
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Identifiers |
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Aliases | ZFYVE27, PROTRUDIN, SPG33, zinc finger FYVE-type containing 27 |
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External IDs | OMIM: 610243; MGI: 1919602; HomoloGene: 16939; GeneCards: ZFYVE27; OMA:ZFYVE27 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 10 (human)[1] |
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| Band | 10q24.2 | Start | 97,737,121 bp[1] |
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End | 97,760,907 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 19 (mouse)[2] |
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| Band | 19|19 C3 | Start | 42,152,390 bp[2] |
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End | 42,183,029 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - pancreatic ductal cell
- right hemisphere of cerebellum
- mucosa of ileum
- right uterine tube
- anterior pituitary
- left ovary
- mucosa of transverse colon
- right frontal lobe
- right ovary
- tibial nerve
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| Top expressed in | - granulocyte
- neural layer of retina
- substantia nigra
- superior frontal gyrus
- visual cortex
- primary visual cortex
- dentate gyrus of hippocampal formation granule cell
- vestibular membrane of cochlear duct
- trigeminal ganglion
- facial motor nucleus
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | - protein binding
- metal ion binding
- protein self-association
| Cellular component | - cytoplasm
- 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
- cytosol
| Biological process | - protein localization to plasma membrane
- neuron projection development
- neurotrophin TRK receptor signaling pathway
- vesicle-mediated transport
- positive regulation of axon extension
- endoplasmic reticulum tubular network formation
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | NM_001002261 NM_001002262 NM_001174119 NM_001174120 NM_001174121
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NM_001174122 NM_144588 |
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RefSeq (protein) | NP_001002261 NP_001002262 NP_001167590 NP_001167591 NP_001167592
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NP_001167593 NP_653189 |
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Location (UCSC) | Chr 10: 97.74 – 97.76 Mb | Chr 19: 42.15 – 42.18 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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Zinc finger, FYVE domain containing 27 is a protein that in humans is encoded by the ZFYVE27 gene.[5]
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 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
- ^ 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
- 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. 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.