KIAA1279
| KIF1 binding protein | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | KIF1BP ; KBP; KIAA1279; TTC20 | ||||||||||||
| External IDs | OMIM: 609367 MGI: 1919570 HomoloGene: 9223 GeneCards: KIF1BP Gene | ||||||||||||
| |||||||||||||
| RNA expression pattern | |||||||||||||
 | |||||||||||||
| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 26128 | 72320 | |||||||||||
| Ensembl | ENSG00000198954 | ENSMUSG00000036955 | |||||||||||
| UniProt | Q96EK5 | Q6ZPU9 | |||||||||||
| RefSeq (mRNA) | NM_015634 | NM_028197 | |||||||||||
| RefSeq (protein) | NP_056449 | NP_082473 | |||||||||||
| Location (UCSC) |
Chr 10: 68.99 – 69.02 Mb |
Chr 10: 62.54 – 62.58 Mb | |||||||||||
| PubMed search | |||||||||||||
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
- ↑ "Entrez Gene: KIAA1279 KIAA1279".
- 1 2 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 (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
Further reading
- 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 (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
- 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 (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569.
- Wozniak MJ, Melzer M, Dorner C, Haring HU, Lammers R (2005). "The novel protein KBP regulates mitochondria localization by interaction with a kinesin-like protein". BMC Cell Biol. 6: 35. doi:10.1186/1471-2121-6-35. PMC 1266353. PMID 16225668.
- 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 (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
- 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 (2005). "Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems". Am. J. Hum. Genet. 77 (1): 120–6. doi:10.1086/431244. PMC 1226183. PMID 15883926.
- Nagase T, Ishikawa K, Kikuno R, Hirosawa M, Nomura N, Ohara O (1999). "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". DNA Res. 6 (5): 337–45. doi:10.1093/dnares/6.5.337. PMID 10574462.
External links
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