Synthesized phosho peptide around human KIF1B (Ser1487)

This antibody detects endogenous levels of Human KIF1B (phospho-Ser1487)

KIF1B KIAA0591 KIAA1448

KIF1B (Ser1487)

Kinesin-like protein KIF1B ;
Klp ;

This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1. [provided by RefSeq, Jul 2008],

Disease:Defects in KIF1B are the cause of Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]. CMT2A1 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.,Function:Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility.,similarity:Belongs to the kinesin-like protein family.,similarity:Belongs to the kinesin-like protein family. Unc-104 subfamily.,similarity:Contains 1 FHA domain.,similarity:Contains 1 kinesin-motor domain.,similarity:Contains 1 PH domain.,subunit:Interacts with KBP.,tissue specificity:Isoform 3 is abundant in the skeletal muscle. It is also expressed in fetal brain, lung and kidney, and adult heart, placenta, testis, ovary and small intestine. Isoform 2 is abundant in the brain and also expressed in fetal heart, lung, liver and kidney, and adult skeletal muscle, placenta, liver, kidney, heart, spleen, thymus, prostate, testis, ovary, small intestine, colon and pancreas.,

Cytoplasm, cytoskeleton. Mitochondrion . Cell projection, axon .; [Isoform 1]: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle .

Isoform 3 is abundant in the skeletal muscle. It is also expressed in fetal brain, lung and kidney, and adult heart, placenta, testis, ovary and small intestine. Isoform 2 is abundant in the brain and also expressed in fetal heart, lung, liver and kidney, and adult skeletal muscle, placenta, liver, kidney, heart, spleen, thymus, prostate, testis, ovary, small intestine, colon and pancreas.