Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.6.4.4 (kinesin)
 5,033 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The enhancer-trap system is a useful tool to uncover genes that exhibit a unique tissue-specific expression. Here, we established a transgenic mouse line in which the reporter gene LacZ was specifically expressed in the developing limbs and face in the embryo. To identify the endogenous genes that are controlled by the limb- and face-specific enhancers, we pinpointed the integration site of the transgene, and analyzed the expression pattern of the genes that were located near the integration site. We found that the gene encoding KIF26B, a member of the kinesin superfamily, was preferentially expressed in the limb buds, face, and somite derivatives. Moreover, while a 7.5-kb mRNA was the major Kif26B transcript in the embryo, it was absent in many adult tissues. These results imply that KIF26B may play a role in embryogenesis, specifically in the development of limbs, face, and somites.
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PMID:An enhancer-trap LacZ transgene reveals a distinct expression pattern of Kinesin family 26B in mouse embryos. 1472 8

KIF26B is a member of the kinesin superfamily with evolutionarily conserved functions in controlling aspects of embryogenesis, including the development of the nervous system, though its function is incompletely understood. We describe an infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. We performed whole exome sequencing on the trio and identified a de novo KIF26B missense variant, p.Gly546Ser, in the proband. This variant alters a highly conserved amino acid residue that is part of the phosphate-binding loop motif and motor-like domain and is deemed pathogenic by several in silico methods. Functional analysis of the variant protein in cultured cells revealed a reduction in the KIF26B protein's ability to promote cell adhesion, a defect that potentially contributes to its pathogenicity. Overall, KIF26B may play a critical role in the brain development and, when mutated, cause pontocerebellar hypoplasia with arthrogryposis.
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PMID:De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. 3015 50

Kinesins are essential for the transport and positioning of several biomolecules through moving along the microtubule in eukaryotic cells. Up to now, there are 14 kinesin family proteins known. The MAPK pathway which is composed of multiple proteins constituting a complex cascade also plays important roles in cell proliferation, differentiation and apoptosis in eukaryotic cells. MAPK pathway includes three main kinases: MAPK Kinase Kinase, MAPK Kinase and mitogen-activated protein kinase that activate and phosphorylate downstream step by step in which abundant proteins scaffold together in complex ways. To accomplish the transmission of a variety of signals, numbers of kinesins are closely associated with the MAPK cascade such as Kinesin-1, Kinesin-3, Kinesin-5, Kinesin-8, Kinesin-11 and Kinesin-13 families in mammals and two kinds of kinesin-like proteins in plants. Studies have indicated that Kinesin-1 light chain KLC1, Kinesin-1 heavy chain KIF5B and Kinesin-11 family motor KIF26B interact with extracellular signal-regulated kinase ERK closely to regulate neuronal differentiation and mediate the chemosensitivity of osteosarcoma cells to drugs, Kinesin-3 family motor KIF13B and Kinesin-5 family motor Eg5 perform functions in regulating p38 to regulate the myelination of nervous system and facilitate the spindle elongation and tension, Kinesin-8 family motor MS-KIF18A and three isoforms of kinesin-13 can also connect and interact with MAPK pathway to transport estrogen receptor to the nucleus and control cell migration. In plant cells, NPK1-activating kinesin-like protein 1 NACK and AtNACK1 (HIK) kinesin-like protein HINKEL are two members of the plant-specific kinesin-7. They function as Ras at the upstream of MAPK pathway to regulate cytokinesis. This review summarizes the novel roles of kinesins in MAPK cascade and tries to discuss the mechanism of the interaction between them using mammalian and plant cells as models.
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PMID:Kinesins in MAPK cascade: How kinesin motors are involved in the MAPK pathway? 3034 67