KIAA1279
| KIAA1279 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | KIAA1279 ; KBP; TTC20 | ||||||||||||
| External IDs | OMIM: 609367 MGI: 1919570 HomoloGene: 9223 GeneCards: KIAA1279 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| 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: 70.75 – 70.78 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".
- ↑ 2.0 2.1 Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N et al. (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 et al. (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 et al. (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. Vancouver style error (help)
- 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 et al. (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 et al. (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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