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词条 KIAA1279
释义

  1. Clinical significance

  2. Interactions

  3. References

  4. Further reading

  5. External links

{{Infobox_gene}}KIF1-binding protein is a protein that in humans is encoded by the KIAA1279 gene.[1]

Clinical significance

Defects may be associated with Goldberg–Shprintzen syndrome (OMIM 609460).

Interactions

KIAA1279 has been shown to interact with Retinal G protein coupled receptor[2] and Dipeptidase 1.[2]

References

1. ^{{cite web | title = Entrez Gene: KIAA1279 KIAA1279| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26128| accessdate = }}
2. ^{{cite journal | vauthors = Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M | title = Towards a proteome-scale map of the human protein–protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8 | date = Oct 2005 | pmid = 16189514 | doi = 10.1038/nature04209|authorlink30=Huda Zoghbi }}

Further reading

{{refbegin | 2}}
  • {{cite journal | vauthors = Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D | title = Large-scale mapping of human protein–protein interactions by mass spectrometry | journal = Mol. Syst. Biol. | volume = 3 | issue = 1 | pages = 89 | year = 2007 | pmid = 17353931 | pmc = 1847948 | doi = 10.1038/msb4100134 }}
  • {{cite journal | vauthors = Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY | title = A protein–protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration | journal = Cell | volume = 125 | issue = 4 | pages = 801–14 | year = 2006 | pmid = 16713569 | doi = 10.1016/j.cell.2006.03.032 }}
  • {{cite journal | vauthors = Wozniak MJ, Melzer M, Dorner C, Haring HU, Lammers R | title = The novel protein KBP regulates mitochondria localization by interaction with a kinesin-like protein | journal = BMC Cell Biol. | volume = 6 | pages = 35 | year = 2005 | pmid = 16225668 | pmc = 1266353 | doi = 10.1186/1471-2121-6-35 }}
  • {{cite journal | vauthors = Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M | title = Towards a proteome-scale map of the human protein–protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8 | year = 2005 | pmid = 16189514 | doi = 10.1038/nature04209 }}
  • {{cite journal | vauthors = Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM | title = Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems | journal = Am. J. Hum. Genet. | volume = 77 | issue = 1 | pages = 120–6 | year = 2005 | pmid = 15883926 | pmc = 1226183 | doi = 10.1086/431244 }}
  • {{cite journal | vauthors = Nagase T, Ishikawa K, Kikuno R, Hirosawa M, Nomura N, Ohara O | title = Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro | journal = DNA Res. | volume = 6 | issue = 5 | pages = 337–45 | year = 1999 | pmid = 10574462 | doi = 10.1093/dnares/6.5.337 }}
{{refend}}

External links

  • [https://www.ncbi.nlm.nih.gov/omim/609460 Online Mendelian Inheritance in Man entry on GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME]
{{KIAA human genes}}{{gene-10-stub}}
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