| 释义 |
- Clinical relevance
- References
- Further reading
{{Infobox_gene}}Uncharacterized protein KIAA1377 is a protein that in humans is encoded by the KIAA1377 gene.[1][2]Also known as Cep126, the protein has been shown to localize to the centrosome. Furthermore, it is found at pericentriolar satellites and the base of the primary cilium. Depleting Cep126 leads to dispersion of pericentriolar satellites, in turn disrupting microtubule organization at the mitotic spindle.[3] Clinical relevanceMutations in this gene have been found to cause monomelic amyotrophy.[4] References1. ^{{cite journal |vauthors=Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O | title = Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro | journal = DNA Res | volume = 7 | issue = 1 | pages = 65–73 | date = Apr 2000 | pmid = 10718198 | pmc = | doi = 10.1093/dnares/7.1.65 }}
2. ^{{cite web | title = Entrez Gene: KIAA1377 KIAA1377| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57562| accessdate = }}
3. ^{{cite journal |vauthors=Bonavita R, Walas D, Townley AK, Luini A, Stephens DJ, Colanzi A | title = Cep126 is required for pericentriolar satellite localisation to the centrosome and for primary cilium formation | journal = Biology of the Cell | date = May 27, 2014 | pmid = 24867236 | doi = 10.1111/boc.201300087 | volume=106 | pages=254–267| pmc=4293463 }}
4. ^{{cite journal |vauthors=Lim YM, Koh I, Park YM, Kim JJ, Kim DS, Kim HJ, Baik KH, Choi HY, Yang GS, Also-Rallo E, Tizzano EF, Gamez J, Park K, Yoo HW, Lee JK, Kim KK | title = Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy. | journal = Neuromuscular Disorders | volume = 22 | issue = 5 | pages = 394–400 | date = Jan 18, 2012 | pmid = 22264561 | doi = 10.1016/j.nmd.2011.11.006 }}
Further reading{{refbegin | 2}}- {{cite journal |vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791 }}
- {{cite journal |vauthors=Wistow G, Bernstein SL, Wyatt MK, etal |title=Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts. |journal=Mol. Vis. |volume=8 |issue= |pages= 196–204 |year= 2002 |pmid= 12107411 |doi= }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
- {{cite journal |vauthors=Morris JA, Kandpal G, Ma L, Austin CP |title=DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation. |journal=Hum. Mol. Genet. |volume=12 |issue= 13 |pages= 1591–608 |year= 2004 |pmid= 12812986 |doi=10.1093/hmg/ddg162 }}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
- {{cite journal |vauthors=Goehler H, Lalowski M, Stelzl U, etal |title=A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease. |journal=Mol. Cell |volume=15 |issue= 6 |pages= 853–65 |year= 2004 |pmid= 15383276 |doi= 10.1016/j.molcel.2004.09.016 }}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
- {{cite journal |vauthors=Stelzl U, Worm U, Lalowski M, etal |title=A human protein-protein interaction network: a resource for annotating the proteome. |journal=Cell |volume=122 |issue= 6 |pages= 957–68 |year= 2005 |pmid= 16169070 |doi= 10.1016/j.cell.2005.08.029 }}
{{refend}}{{KIAA human genes}}{{gene-11-stub}} |