KLC2
| KLC2 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | KLC2, kinesin light chain 2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 611729; MGI: 107953; GeneCards: KLC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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Kinesin light chain 2 is a protein that in humans is encoded by the KLC2 gene.[5][6] This gene is responsible for SPOAN syndrome, a type of hereditary spastic paraplegia.[7][8]
Interactions
[edit]KLC2 has been shown to interact with MAPK8IP3[9] and KIF5B.[5][10]
SPOAN syndrome
[edit]SPOAN syndrome was first discovered by a research group led by Silvana Santos in the Serrinha dos Pintos area of Northeast Brazil known for high levels of inbreeding.[11] The name derives from an acronym for spastic paraplegia, optic atrophy, and peripheral neuropathy (SPOAN), the symptoms characteristic to the syndrome.[7] The cause is a homozygous deletion of 216 base pairs in KLC2 regulatory region.[12] This homozygous deletion has been found in more than 70 individuals from Rio Grande do Norte backlands and siblings in Egypt; the mutation origin was in Iberian Peninsula over 485 years ago.[13]
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000174996 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024862 – 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 Rahman A, Friedman DS, Goldstein LS (June 1998). "Two kinesin light chain genes in mice. Identification and characterization of the encoded proteins". The Journal of Biological Chemistry. 273 (25): 15395–15403. doi:10.1074/jbc.273.25.15395. PMID 9624122.
- ↑ "Entrez Gene: KLC2 kinesin light chain 2".
- 1 2 "Entry - #609541 - Spastic Paraplegia, Optic Atrophy, and Neuropathy; Spoan - OMIM". omim.org. Retrieved 2025-05-12.
- ↑ "SPOAN syndrome - National Organization for Rare Disorders". rarediseases.org. Retrieved 2025-05-12.
- ↑ Bowman AB, Kamal A, Ritchings BW, Philp AV, McGrail M, Gindhart JG, et al. (November 2000). "Kinesin-dependent axonal transport is mediated by the sunday driver (SYD) protein". Cell. 103 (4): 583–594. doi:10.1016/S0092-8674(00)00162-8. PMID 11106729. S2CID 247102.
- ↑ Rahman A, Kamal A, Roberts EA, Goldstein LS (September 1999). "Defective kinesin heavy chain behavior in mouse kinesin light chain mutants". The Journal of Cell Biology. 146 (6): 1277–1288. doi:10.1083/jcb.146.6.1277. PMC 2156125. PMID 10491391.
- ↑ Kok F, Weller M, de Paiva FR, Otto PA, Santos S (April 2010). "Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders". Genetics and Molecular Biology. 33 (2): 220–223. doi:10.1590/S1415-47572010005000020. ISSN 1678-4685. PMC 3036858. PMID 21637472.
- ↑ Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, et al. (December 2015). "Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome". Human Molecular Genetics. 24 (24) ddv388. doi:10.1093/hmg/ddv388. hdl:11336/29433. PMC 6296331. PMID 26385635.
- ↑ de Farias AA, Nunes K, Lemes RB, Moura R, Fernandes GR, Melo US, et al. (November 2018). "Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations". Scientific Reports. 8 (1) 16552. doi:10.1038/s41598-018-35022-1. PMC 6224410. PMID 30410084.
Further reading
[edit]- Hartley JL, Temple GF, Brasch MA (November 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–1795. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
- Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, et al. (March 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–435. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
- Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (September 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports. 1 (3): 287–292. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
- Newsome TP, Scaplehorn N, Way M (October 2004). "SRC mediates a switch from microtubule- to actin-based motility of vaccinia virus". Science. 306 (5693). New York, N.Y.: 124–129. Bibcode:2004Sci...306..124N. doi:10.1126/science.1101509. PMID 15297625. S2CID 45392007.
- Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, et al. (August 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America. 101 (33): 12130–12135. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
- Jin J, Smith FD, Stark C, Wells CD, Fawcett JP, Kulkarni S, et al. (August 2004). "Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization". Current Biology. 14 (16): 1436–1450. Bibcode:2004CBio...14.1436J. doi:10.1016/j.cub.2004.07.051. PMID 15324660. S2CID 2371325.
- Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, et al. (October 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–2144. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
- Benzinger A, Muster N, Koch HB, Yates JR, Hermeking H (June 2005). "Targeted proteomic analysis of 14-3-3 sigma, a p53 effector commonly silenced in cancer". Molecular & Cellular Proteomics. 4 (6): 785–795. doi:10.1074/mcp.M500021-MCP200. PMID 15778465.
- Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, et al. (January 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415–D418. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
- Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, et al. (May 2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–814. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.
- Beausoleil SA, Villén J, Gerber SA, Rush J, Gygi SP (October 2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nature Biotechnology. 24 (10): 1285–1292. doi:10.1038/nbt1240. PMID 16964243. S2CID 14294292.
- Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, et al. (November 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–648. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
- Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.