KIAA0196 explained

KIAA0196 (also known as strumpellin) is a human gene.^[1] The product is a protein that is a component of the WASH complex, which regulates actin assembly on intracellular vesicles.^[2] Mutations in KIAA0196 are implicated in some forms of hereditary spastic paraplegia.^[3]

External links

• GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia 8 and the involvement of the protein strumpellin

Further reading

• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–174 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Nagase T . Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1 . DNA Res. . 3 . 1 . 17–24 . 1996 . 8724849 . 10.1093/dnares/3.1.17 . vanc. Seki N . Ishikawa K . 3 . Tanaka . A . Nomura . N . free.
• Suzuki Y . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–156 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 . vanc. Yoshitomo-Nakagawa K . Maruyama K . 3 . Suyama . A . Sugano . S .
• Hedera P . Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q . Am. J. Hum. Genet. . 64 . 2 . 563–569 . 1999 . 9973294 . 10.1086/302258 . 1377766 . vanc. Rainier S . Alvarado D . 3 . Zhao . X . Williamson . J . Otterud . B . Leppert . M . Fink . J .
• Strausberg RL . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–16903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . vanc. Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Gevaert K . Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides . Nat. Biotechnol. . 21 . 5 . 566–569 . 2004 . 12665801 . 10.1038/nbt810 . vanc. Goethals M . Martens L . 3 . Van Damme . Jozef . Staes . An . Thomas . Grégoire R. . Vandekerckhove . Joël . 23783563 .
• Porkka KP, Tammela TL, Vessella RL, Visakorpi T . RAD21 and KIAA0196 at 8q24 are amplified and overexpressed in prostate cancer . Genes Chromosomes Cancer . 39 . 1 . 1–10 . 2004 . 14603436 . 10.1002/gcc.10289 . 46570803 . free .
• Gerhard DS . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–2127 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . vanc. Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Kimura K . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 . vanc. Wakamatsu A . Suzuki Y . 3 . Ota . T . Nishikawa . T . Yamashita . R . Yamamoto . J . Sekine . M . Tsuritani . K .
• Valdmanis PN . Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia . Am. J. Hum. Genet. . 80 . 1 . 152–161 . 2007 . 17160902 . 10.1086/510782 . 1785307 . vanc. Meijer IA . Reynolds A . 3 . Lei . Adrienne . MacLeod . Patrick . Schlesinger . David . Zatz . Mayana . Reid . Evan . Dion . Patrick A. .

Notes and References

1. Web site: Entrez Gene: KIAA0196 KIAA0196.
2. Seaman. Matthew N. J.. Gautreau. Alexis. Billadeau. Daniel D.. 2013-11-01. Retromer-mediated endosomal protein sorting: all WASHed up!. Trends in Cell Biology. 23. 11. 522–528. 10.1016/j.tcb.2013.04.010. 1879-3088. 3924425. 23721880.
3. Jahic. Amir. Khundadze. Mukhran. Jaenisch. Nadine. Schüle. Rebecca. Klimpe. Sven. Klebe. Stephan. Frahm. Christiane. Kassubek. Jan. Stevanin. Giovanni. 2015-11-16. The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8. Orphanet Journal of Rare Diseases. En. 10. 1. 147. 10.1186/s13023-015-0359-x. 1750-1172. 4647479. 26572744 . free .