kinesin family member 1B (Kif1b, Klp, KIAA0591, KIAA1448)
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Function
- motor for anterograde transport of mitochondria
- has a microtubule plus end-directed motility
- may function as a monomeric motor for anterograde transport of mitochondria
Structure
- belongs to the kinesin-like protein family, Unc-104 subfamily
- contains 1 FHA domain
- contains 1 kinesin-motor domain
- contains 1 PH domain
Compartment
- cytoplasmic vesicle (putative)
- cytoplasm, cytoskeleton (putative)
- predominantly found on the vesicle- & tubule-like structures within the cytoplasm
Alternative splicing
named isoforms=4
Expression
- isoform 3 is abundant in the skeletal muscle it is also expressed in fetal brain, lung & kidney, & adult heart, placenta, testis, ovary & small intestine
- isoform 2 is abundant in the brain & also expressed in fetal heart, lung, liver & kidney, & adult skeletal muscle, placenta, liver, kidney, heart, spleen, thymus, prostate, testis, ovary, small intestine, colon & pancreas
Pathology
- defects in KIF1B are the cause of Charcot-Marie-Tooth disease type 2A1
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/O60333.html
- ↑ Inherited peripheral neuropathies mutation db http://www.molgen.ua.ac.be/CMTmutations/
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=KIF1B