ZFYVE26

ZFYVE26
Identifiers
Aliases	ZFYVE26 , FYVE-CENT, SPG15, zinc finger FYVE-type containing 26
External IDs	OMIM: 612012; MGI: 1924767; HomoloGene: 9102; GeneCards: ZFYVE26; OMA:ZFYVE26 - orthologs
Gene location (Human) Chr. Chromosome 14 (human) [1] Band 14q24.1 Start 67,727,374 bp [1] End 67,816,590 bp [1]
Gene location (Mouse) Chr. Chromosome 12 (mouse) [2] Band 12|12 C3 Start 79,279,120 bp [2] End 79,343,078 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve endothelial cell visceral pleura Skeletal muscle tissue of biceps brachii internal globus pallidus tendon of biceps brachii muscle of thigh epithelium of colon stromal cell of endometrium ventricular zone Top expressed in granulocyte zygote genital tubercle epithelium of small intestine neural layer of retina blastocyst left lobe of liver tail of embryo spermatocyte superior frontal gyrus More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding metal ion binding lipid binding phosphatidylinositol-3-phosphate binding Cellular component cytoplasm lysosomal membrane centrosome cytoskeleton microtubule organizing center midbody Biological process cell division cell cycle cytokinesis double-strand break repair via homologous recombination DNA repair cellular response to DNA damage stimulus mitotic cytokinesis regulation of cytokinesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23503 211978 Ensembl ENSG00000072121 ENSMUSG00000066440 UniProt Q68DK2 Q5DU37 RefSeq (mRNA) NM_015346 NM_001008550 RefSeq (protein) NP_056161 NP_001008550 Location (UCSC) Chr 14: 67.73 – 67.82 Mb Chr 12: 79.28 – 79.34 Mb PubMed search [3] [4]
Wikidata
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Zinc finger, FYVE domain containing 26 is a protein that in humans is encoded by the ZFYVE26 gene. ^[5]

Function

This gene encodes a protein which contains a FYVE zinc finger binding domain. The presence of this domain is thought to target these proteins to membrane lipids through interaction with phospholipids in the membrane. Mutations in this gene are associated with autosomal recessive spastic paraplegia-15. ^[5]

References

1. GRCh38: Ensembl release 89: ENSG00000072121 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000066440 – 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. "Entrez Gene: Zinc finger, FYVE domain containing 26".

Further reading

• Elleuch N, Bouslam N, Hanein S, Lossos A, Hamri A, Klebe S, Meiner V, Birouk N, Lerer I, Grid D, Bacq D, Tazir M, Zelenika D, Argov Z, Durr A, Yahyaoui M, Benomar A, Brice A, Stevanin G (Nov 2007). "Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families". Neurogenetics. 8 (4): 307–15. doi:10.1007/s10048-007-0097-x. PMID   17661097. S2CID   25209385.
• Boukhris A, Stevanin G, Feki I, Denis E, Elleuch N, Miladi MI, Truchetto J, Denora P, Belal S, Mhiri C, Brice A (Mar 2008). "Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity". Archives of Neurology. 65 (3): 393–402. doi: 10.1001/archneur.65.3.393 . PMID   18332254.
• Sagona AP, Nezis IP, Bache KG, Haglund K, Bakken AC, Skotheim RI, Stenmark H (2011). "A tumor-associated mutation of FYVE-CENT prevents its interaction with Beclin 1 and interferes with cytokinesis". PLOS ONE. 6 (3) e17086. Bibcode:2011PLoSO...617086S. doi: 10.1371/journal.pone.0017086 . PMC   3063775 . PMID   21455500.
• Goizet C, Boukhris A, Maltete D, Guyant-Maréchal L, Truchetto J, Mundwiller E, Hanein S, Jonveaux P, Roelens F, Loureiro J, Godet E, Forlani S, Melki J, Auer-Grumbach M, Fernandez JC, Martin-Hardy P, Sibon I, Sole G, Orignac I, Mhiri C, Coutinho P, Durr A, Brice A, Stevanin G (Oct 2009). "SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum". Neurology. 73 (14): 1111–9. doi:10.1212/WNL.0b013e3181bacf59. PMID   19805727. S2CID   39444163.
• Sagona AP, Nezis IP, Pedersen NM, Liestøl K, Poulton J, Rusten TE, Skotheim RI, Raiborg C, Stenmark H (Apr 2010). "PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment of FYVE-CENT to the midbody" (PDF). Nature Cell Biology. 12 (4): 362–71. doi:10.1038/ncb2036. hdl: 10852/28044 . PMID   20208530. S2CID   2765716.
• Schüle R, Schlipf N, Synofzik M, Klebe S, Klimpe S, Hehr U, Winner B, Lindig T, Dotzer A, Riess O, Winkler J, Schöls L, Bauer P (Dec 2009). "Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia". Journal of Neurology, Neurosurgery, and Psychiatry. 80 (12): 1402–4. doi:10.1136/jnnp.2008.167528. PMID   19917823. S2CID   23251702.
• Murmu RP, Martin E, Rastetter A, Esteves T, Muriel MP, El Hachimi KH, Denora PS, Dauphin A, Fernandez JC, Duyckaerts C, Brice A, Darios F, Stevanin G (Jul 2011). "Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia". Molecular and Cellular Neurosciences. 47 (3): 191–202. doi:10.1016/j.mcn.2011.04.004. PMID   21545838. S2CID   5450391.
• Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, Benomar A, Lossos A, Denora P, Fernandez J, Elleuch N, Forlani S, Durr A, Feki I, Hutchinson M, Santorelli FM, Mhiri C, Brice A, Stevanin G (Apr 2008). "Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome". American Journal of Human Genetics. 82 (4): 992–1002. doi:10.1016/j.ajhg.2008.03.004. PMC   2427184 . PMID   18394578.
• Hughes CA, Byrne PC, Webb S, McMonagle P, Patterson V, Hutchinson M, Parfrey NA (May 2001). "SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q". Neurology. 56 (9): 1230–3. doi:10.1212/wnl.56.9.1230. PMID   11342696. S2CID   31185837.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.