KIAA1279

KIFBP
Identifiers
Aliases	KIFBP , KBP, KIAA1279, TTC20, KIF1 binding protein, kinesin family binding protein, KIF1BP
External IDs	OMIM: 609367 MGI: 1919570 HomoloGene: 9223 GeneCards: KIFBP
Gene location (Human) Chr. Chromosome 10 (human) [1] Band 10q22.1 Start 68,988,803 bp [1] End 69,043,544 bp [1]
Gene location (Mouse) Chr. Chromosome 10 (mouse) [2] Band 10|10 B4 Start 62,374,405 bp [2] End 62,414,236 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in frontal pole secondary oocyte right ventricle middle frontal gyrus prefrontal cortex ganglionic eminence Brodmann area 9 orbitofrontal cortex cerebellar vermis islet of Langerhans Top expressed in temporal lobe amygdala olfactory epithelium Region I of hippocampus proper prefrontal cortex anterior horn of spinal cord hippocampus proper facial motor nucleus nucleus accumbens otolith organ More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding kinesin binding Cellular component cytoplasm cytoskeleton mitochondrion Biological process multicellular organism development cell differentiation mitochondrial transport nervous system development Sources:Amigo / QuickGO
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 – 69.04 Mb Chr 10: 62.37 – 62.41 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

KIF1-binding protein, also known as Kinesin binding protein(KBP), is a protein that in humans is encoded by the KIAA1279 gene. ^[5] The interaction of KBP with Kif15 is necessary for the localization of Kif15 to the microtubule plus-end at the spindle equator. ^[6] Interaction between Kif15 and KBP is essential for the perfect alignment of chromosomes at the metaphase plate, and any defect in their interaction leads to delay in chromosomal alignment during mitosis. ^[7] Anything that perturb the interaction of KBP and Kif15 can block the cells at mitosis, ^[8] and hence it can be therapeutically used to control Kif15 upregulated cancer cells.

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 ^[9] and Dipeptidase 1. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000198954 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000036955 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: KIAA1279 KIAA1279".
6. Brouwers N, Mallol Martinez N, Vernos I (2017-04-26). "Role of Kif15 and its novel mitotic partner KBP in K-fiber dynamics and chromosome alignment". PLOS ONE. 12 (4): e0174819. Bibcode:2017PLoSO..1274819B. doi: 10.1371/journal.pone.0174819 . PMC   5405935 . PMID   28445502.
7. Vanneste D, Takagi M, Imamoto N, Vernos I (November 2009). "The role of Hklp2 in the stabilization and maintenance of spindle bipolarity". Current Biology. 19 (20): 1712–7. Bibcode:2009CBio...19.1712V. doi: 10.1016/j.cub.2009.09.019 . PMID   19818619.
8. Sebastian J, Rathinasamy K (July 2019). "Benserazide Perturbs Kif15-kinesin Binding Protein Interaction with Prolonged Metaphase and Defects in Chromosomal Congression: A Study Based on in silico Modeling and Cell Culture". Molecular Informatics. 39 (3): minf.201900035. doi:10.1002/minf.201900035. PMID   31347789. S2CID   198911009.
9. Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.

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". Molecular Systems Biology. 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. (May 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. S2CID   13709685.
• Wozniak MJ, Melzer M, Dorner C, Haring HU, Lammers R (October 2005). "The novel protein KBP regulates mitochondria localization by interaction with a kinesin-like protein". BMC Cell Biology. 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. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, et al. (July 2005). "Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems". American Journal of Human Genetics. 77 (1): 120–6. doi:10.1086/431244. PMC   1226183 . PMID   15883926.
• Nagase T, Ishikawa K, Kikuno R, Hirosawa M, Nomura N, Ohara O (October 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 Research. 6 (5): 337–45. doi: 10.1093/dnares/6.5.337 . PMID   10574462.

External links

• Online Mendelian Inheritance in Man entry on GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME