KIF1C

{{Short description|Protein-coding gene in the species Homo sapiens}}

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{{Use dmy dates|date=August 2022}}

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Kinesin-like protein KIF1C is a protein that in humans is encoded by the KIF1C gene.{{cite journal | vauthors = Dorner C, Ciossek T, Müller S, Møller PH, Ullrich A, Lammers R | title = Characterization of KIF1C, a new kinesin-like protein involved in vesicle transport from the Golgi apparatus to the endoplasmic reticulum | journal = The Journal of Biological Chemistry | volume = 273 | issue = 32 | pages = 20267–75 | date = August 1998 | pmid = 9685376 | doi = 10.1074/jbc.273.32.20267 | doi-access = free }}{{cite web | title = Entrez Gene: KIF1C kinesin family member 1C| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10749}}

Kif1C is a fast, plus-end directed microtubule motor.{{cite journal | vauthors = Rogers KR, Weiss S, Crevel I, Brophy PJ, Geeves M, Cross R | title = KIF1D is a fast non-processive kinesin that demonstrates novel K-loop-dependent mechanochemistry | journal = The EMBO Journal | volume = 20 | issue = 18 | pages = 5101–13 | date = September 2001 | pmid = 11566875 | pmc = 125638 | doi = 10.1093/emboj/20.18.5101 }} It takes processive 8nm steps along microtubules and can generate forces of up to 5 pN.{{cite journal |last1=Siddiqui |first1=Nida |last2=Roth |first2=Daniel |last3=Toleikis |first3=Algirdas |last4=Zwetsloot |first4=Alexander J. |last5=Cross |first5=Robert A. |last6=Straube |first6=Anne |title=Force generation of KIF1C is impaired by pathogenic mutations |journal=Current Biology |date=September 2022 |volume=32 |issue=17 |pages=3862–3870.e6 |doi=10.1016/j.cub.2022.07.029|pmid=35961316 |pmc=9631238 |bibcode=2022CBio...32E3862S }} Kif1C transports α5β1-integrins in human cells.{{cite journal | vauthors = Theisen U, Straube E, Straube A | title = Directional persistence of migrating cells requires Kif1C-mediated stabilization of trailing adhesions | journal = Developmental Cell | volume = 23 | issue = 6 | pages = 1153–66 | date = December 2012 | pmid = 23237952 | doi = 10.1016/j.devcel.2012.11.005 | doi-access = free }} Kif1C has been shown to be non-essential in mouse with other proteins able to perform the same function.{{cite journal | vauthors = Nakajima K, Takei Y, Tanaka Y, Nakagawa T, Nakata T, Noda Y, Setou M, Hirokawa N | title = Molecular motor KIF1C is not essential for mouse survival and motor-dependent retrograde Golgi apparatus-to-endoplasmic reticulum transport | journal = Molecular and Cellular Biology | volume = 22 | issue = 3 | pages = 866–73 | date = February 2002 | pmid = 11784862 | pmc = 133549 | doi = 10.1128/MCB.22.3.866-873.2002 }} However, mutations in KIF1C lead to spastic paraplegia and cerebellar dysfunction in humans.{{cite journal|vauthors=Caballero Oteyza A, Battaloğlu E, Ocek L, Lindig T, Reichbauer J, Rebelo AP, Gonzalez MA, Zorlu Y, Ozes B, Timmann D, Bender B, Woehlke G, Züchner S, Schöls L, Schüle R|date=June 2014|title=Motor protein mutations cause a new form of hereditary spastic paraplegia|journal=Neurology|volume=82|issue=22|pages=2007–16|doi=10.1212/WNL.0000000000000479|pmc=4105256|pmid=24808017}}{{cite journal | vauthors = Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A, Gaussen M, Meyer V, Durr A, Brice A, Benomar A, Stevanin G, Schuelke M, Edvardson S | title = KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction | journal = Journal of Medical Genetics | volume = 51 | issue = 2 | pages = 137–42 | date = February 2014 | pmid = 24319291 | doi = 10.1136/jmedgenet-2013-102012 | s2cid = 24214406 }}{{cite journal | vauthors = Yücel-Yılmaz D, Yücesan E, Yalnızoğlu D, Oğuz KK, Sağıroğlu MŞ, Özbek U, Serdaroğlu E, Bilgiç B, Erdem S, İşeri SA, Hanağası H, Gürvit H, Özgül RK, Dursun A | title = Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span | journal = Brain & Development | volume = 40 | issue = 6 | pages = 458–464 | date = June 2018 | pmid = 29544888 | doi = 10.1016/j.braindev.2018.02.013 | s2cid = 3892411 }}{{cite journal | vauthors = Marchionni E, Méneret A, Keren B, Melki J, Denier C, Durr A, Apartis E, Boespflug-Tanguy O, Mochel F | title = KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins | journal = Tremor and Other Hyperkinetic Movements | volume = 9 | date = 2019 | pmid = 31413903 | doi = 10.7916/tohm.v0.641 | doi-broken-date = 1 January 2025 | pmc = 6692767 }} These mutations usually result in a total loss of the protein or (partial) loss of function, such as significant lower force output.{{cite journal |last1=Siddiqui |first1=Nida |last2=Roth |first2=Daniel |last3=Toleikis |first3=Algirdas |last4=Zwetsloot |first4=Alexander J. |last5=Cross |first5=Robert A. |last6=Straube |first6=Anne |title=Force generation of KIF1C is impaired by pathogenic mutations |journal=Current Biology |date=September 2022 |volume=32 |issue=17 |pages=3862–3870.e6 |doi=10.1016/j.cub.2022.07.029|pmid=35961316 |pmc=9631238 |bibcode=2022CBio...32E3862S }}