ZFYVE26

ZFYVE26
Identifiers
Aliases	ZFYVE26 , FYVE-CENT, SPG15, zinc finger FYVE-type containing 26
External IDs	OMIM: 612012 MGI: 1924767 HomoloGene: 9102 GeneCards: ZFYVE26
Gene location (Human)
Chr.	Chromosome 14 (human)
End	67,816,590 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	79,343,078 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; endothelial cell; ; visceral pleura; ; internal globus pallidus; ; Stromal cell of endometrium; ; Germinal epithelium; ; bone marrow cells; ; cancellous bone; ; parietal pleura; ; gastrocnemius muscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	GO:0001948 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
	23503
	211978
	ENSG00000072121
	ENSMUSG00000066440
	Q68DK2
	Q5DU37
	NM_015346
	NM_001008550
	NP_056161
	NP_001008550
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated July 06, 2022

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]

Related Research Articles

Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive stiffness (spasticity) and contraction in the lower limbs. HSP is also known as hereditary spastic paraparesis, familial spastic paraplegia, French settlement disease, Strumpell disease, or Strumpell-Lorrain disease. The symptoms are a result of dysfunction of long axons in the spinal cord. The affected cells are the primary motor neurons; therefore, the disease is an upper motor neuron disease. HSP is not a form of cerebral palsy even though it physically may appear and behave much the same as spastic diplegia. The origin of HSP is different from cerebral palsy. Despite this, some of the same anti-spasticity medications used in spastic cerebral palsy are sometimes used to treat HSP symptoms.

The human gene SPAST codes for the microtubule-severing protein of the same name, commonly known as spastin.

Atlastin, or Atlastin-1, is a protein that in humans is encoded by the ATL1 gene.

Paraplegin is a protein that in humans is encoded by the SPG7 gene located on chromosome 16.

Spartin is a protein that in humans is encoded by the SPG20 gene.

Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 is a protein that in humans is encoded by the NIPA1 gene. This gene encodes a potential transmembrane protein which functions either as a receptor or transporter molecule, possibly as a magnesium transporter. This protein is thought to play a role in nervous system development and maintenance. Alternative splice variants have been described, but their biological nature has not been determined. Mutations in this gene have been associated with the human genetic disease autosomal dominant spastic paraplegia 6.

Ankyrin repeat and FYVE domain-containing protein 1 is a protein that in humans is encoded by the ANKFY1 gene.

KIAA0196 is a human gene. The product is a protein that is a component of the WASH complex, which regulates actin assembly on intracellular vesicles. Mutations in KIAA0196 are implicated in some forms of hereditary spastic paraplegia.

Maspardin is a protein that in humans is encoded by the SPG21 gene.

Warburg Micro syndrome (WARBM), also known as Spastic Paraplegia 69 (SPG69) or RAB18 Deficiency, is a rare autosomal recessive genetic disorder characterized by congenital cataract, hypotonia, spastic diplegia, intellectual or developmental disability, microcephaly, microcornea, optic atrophy, and hypogenitalism.

Spatacsin is a protein that in humans is encoded by the SPG11 gene.

Gap junction gamma-2 (GJC2), also known as connexin-46.6 (Cx46.6) and connexin-47 (Cx47) and gap junction alpha-12 (GJA12), is a protein that in humans is encoded by the GJC2 gene.

AFG3 ATPase family gene 3-like 2 is a protein that in humans is encoded by the AFG3L2 gene.

Fatty acid 2-hydroxylase is a protein that in humans is encoded by the FA2H gene.

Acetyl-coenzyme A transporter 1 also known as solute carrier family 33 member 1 (SLC33A1) is a protein that in humans is encoded by the SLC33A1 gene.

Spastic paraplegia 14 is a protein that in humans is encoded by the SPG14 gene.

Zinc finger, FYVE domain containing 27 is a protein that in humans is encoded by the ZFYVE27 gene.

Spastic paraplegia 23 is a 25cM gene locus at 1q24-q32. A genome-wide linkage screen has associated this locus with a type of hereditary spastic paraplegia (HSP).

Spastic paraplegia 15 (SPG15) is a form of hereditary spastic paraplegia that commonly becomes apparent during childhood or adolescence. The disease is caused by mutations within the ZFYVE26 gene - also known as the SPG15 gene - and is passed down in an autosomal recessive manner.

Spastic paraplegia 6 is a rare type of hereditary spastic paraplegia characterized by muscle tone and bladder anomalies associated with pes cavus and specific hyperreflexia.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000072121 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000066440 - 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.
1 2 "Entrez Gene: Zinc finger, FYVE domain containing 26".

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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000072121 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] 1 2 "Entrez Gene: Zinc finger, FYVE domain containing 26".

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ZFYVE26

Contents

Function

Related Research Articles

References

Further reading