KIAA1279

Protein-coding gene in the species Homo sapiens
KIFBP
Identifiers
AliasesKIFBP, KBP, KIAA1279, TTC20, KIF1 binding protein, kinesin family binding protein, KIF1BP
External IDsOMIM: 609367; MGI: 1919570; HomoloGene: 9223; GeneCards: KIFBP; OMA:KIFBP - orthologs
Gene location (Human)
Chromosome 10 (human)
Chr.Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for KIFBP
Genomic location for KIFBP
Band10q22.1Start68,988,803 bp[1]
End69,043,544 bp[1]
Gene location (Mouse)
Chromosome 10 (mouse)
Chr.Chromosome 10 (mouse)[2]
Chromosome 10 (mouse)
Genomic location for KIFBP
Genomic location for KIFBP
Band10|10 B4Start62,374,405 bp[2]
End62,414,236 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • frontal pole

  • ventricular zone

  • secondary oocyte

  • paraflocculus of cerebellum

  • right ventricle

  • middle frontal gyrus

  • prefrontal cortex

  • gonad

  • ganglionic eminence

  • Brodmann area 9
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

  • Epithelium of choroid plexus
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
SpeciesHumanMouse
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 MbChr 10: 62.37 – 62.41 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000198954 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b 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
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