KIF1C

KIF1C
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2G1L
Identifiers
Aliases	KIF1C, LTXS1, SATX2, SAX2, SPAX2, SPG58, kinesin family member 1C
External IDs	OMIM: 603060; MGI: 1098260; HomoloGene: 4821; GeneCards: KIF1C; OMA:KIF1C - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	5,028,401 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	70,731,964 bp
RNA expression pattern
	Top expressed in
	C1 segment; ; gastrocnemius muscle; ; muscle of thigh; ; apex of heart; ; left ventricle; ; right auricle; ; Skeletal muscle tissue of rectus abdominis; ; amygdala; ; olfactory bulb; ; Descending thoracic aorta;
	Top expressed in
	muscle of thigh; ; triceps brachii muscle; ; digastric muscle; ; vastus lateralis muscle; ; gastrocnemius muscle; ; myocardium of ventricle; ; sternocleidomastoid muscle; ; lip; ; ankle; ; ankle joint;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	microtubule binding; microtubule motor activity; nucleotide binding; ATPase activity; cytoskeletal motor activity; protein binding; ATP binding; RNA binding; plus-end-directed microtubule motor activity;
Cellular component	cytoplasm; Golgi apparatus; microtubule; cytoskeleton; endoplasmic reticulum; kinesin complex; axon; dendrite; neuron projection; axon cytoplasm;
Biological process	cytoskeleton-dependent intracellular transport; microtubule-based movement; retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum; vesicle-mediated transport; anterograde neuronal dense core vesicle transport; retrograde neuronal dense core vesicle transport;
	Sources:Amigo / QuickGO
Orthologs
	10749
	16562
	ENSG00000129250
	ENSMUSG00000020821
	O43896
	O35071
	NM_006612
	NM_153103
	NP_006603
	NP_694743
	Wikidata
View/Edit Human	View/Edit Mouse

Kinesin-like protein KIF1C is a protein that in humans is encoded by the KIF1C gene.^[5]^[6] Kif1C is a fast, plus-end directed microtubule motor.^[7] Kif1C transports α5β1-integrins in human cells.^[8] Kif1C has been shown to be non-essential in mouse with other proteins able to perform the same function.^[9] However, mutations in KIF1C lead to spastic paraplegia and cerebellar dysfunction in humans.^[10]^[11]^[12]^[13]

Interactions

KIF1C has been shown to interact with PTPN21^[5] and YWHAG.^[14] KIF1C is a dimeric molecule that is held in an autoinhibited state by interaction of its stalk with the microtubule binding interface of the motor domain. Upon binding of PTPN21 or the cargo adapter HOOK3 to the KIF1C stalk, the motor domain is released, engages with microtubules and commences transport.^[15]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000129250 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020821 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b Dorner C, Ciossek T, Müller S, Møller PH, Ullrich A, Lammers R (August 1998). "Characterization of KIF1C, a new kinesin-like protein involved in vesicle transport from the Golgi apparatus to the endoplasmic reticulum". The Journal of Biological Chemistry. 273 (32): 20267–75. doi:10.1074/jbc.273.32.20267. PMID 9685376.
^ "Entrez Gene: KIF1C kinesin family member 1C".
^ Rogers KR, Weiss S, Crevel I, Brophy PJ, Geeves M, Cross R (September 2001). "KIF1D is a fast non-processive kinesin that demonstrates novel K-loop-dependent mechanochemistry". The EMBO Journal. 20 (18): 5101–13. doi:10.1093/emboj/20.18.5101. PMC 125638. PMID 11566875.
^ Theisen U, Straube E, Straube A (December 2012). "Directional persistence of migrating cells requires Kif1C-mediated stabilization of trailing adhesions". Developmental Cell. 23 (6): 1153–66. doi:10.1016/j.devcel.2012.11.005. PMID 23237952.
^ Nakajima K, Takei Y, Tanaka Y, Nakagawa T, Nakata T, Noda Y, et al. (February 2002). "Molecular motor KIF1C is not essential for mouse survival and motor-dependent retrograde Golgi apparatus-to-endoplasmic reticulum transport". Molecular and Cellular Biology. 22 (3): 866–73. doi:10.1128/MCB.22.3.866-873.2002. PMC 133549. PMID 11784862.
^ Caballero Oteyza A, Battaloğlu E, Ocek L, Lindig T, Reichbauer J, Rebelo AP, et al. (June 2014). "Motor protein mutations cause a new form of hereditary spastic paraplegia". Neurology. 82 (22): 2007–16. doi:10.1212/WNL.0000000000000479. PMC 4105256. PMID 24808017.
^ Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A, et al. (February 2014). "KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction". Journal of Medical Genetics. 51 (2): 137–42. doi:10.1136/jmedgenet-2013-102012. PMID 24319291. S2CID 24214406.
^ Yücel-Yılmaz D, Yücesan E, Yalnızoğlu D, Oğuz KK, Sağıroğlu MŞ, Özbek U, et al. (June 2018). "Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span". Brain & Development. 40 (6): 458–464. doi:10.1016/j.braindev.2018.02.013. PMID 29544888. S2CID 3892411.
^ Marchionni E, Méneret A, Keren B, Melki J, Denier C, Durr A, et al. (2019). "KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins". Tremor and Other Hyperkinetic Movements. 9. doi:10.7916/tohm.v0.641. PMC 6692767. PMID 31413903.
^ Dorner C, Ullrich A, Häring HU, Lammers R (November 1999). "The kinesin-like motor protein KIF1C occurs in intact cells as a dimer and associates with proteins of the 14-3-3 family". The Journal of Biological Chemistry. 274 (47): 33654–60. doi:10.1074/jbc.274.47.33654. PMID 10559254.
^ Siddiqui N, Zwetsloot AJ, Bachmann A, Roth D, Hussain H, Brandt J, et al. (June 2019). "PTPN21 and Hook3 relieve KIF1C autoinhibition and activate intracellular transport". Nature Communications. 10 (1): 2693. Bibcode:2019NatCo..10.2693S. doi:10.1038/s41467-019-10644-9. PMC 6584639. PMID 31217419.

External links

Overview of all the structural information available in the PDB for UniProt: O43896 (Kinesin-like protein KIF1C) at the PDBe-KB.

This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000129250 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000020821 – 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.

[pmid9685376-5] Dorner C, Ciossek T, Müller S, Møller PH, Ullrich A, Lammers R (August 1998). "Characterization of KIF1C, a new kinesin-like protein involved in vesicle transport from the Golgi apparatus to the endoplasmic reticulum". The Journal of Biological Chemistry. 273 (32): 20267–75. doi:10.1074/jbc.273.32.20267. PMID 9685376.

[entrez-6] "Entrez Gene: KIF1C kinesin family member 1C".

[pmid11566875-7] Rogers KR, Weiss S, Crevel I, Brophy PJ, Geeves M, Cross R (September 2001). "KIF1D is a fast non-processive kinesin that demonstrates novel K-loop-dependent mechanochemistry". The EMBO Journal. 20 (18): 5101–13. doi:10.1093/emboj/20.18.5101. PMC 125638. PMID 11566875.

[pmid23237952-8] Theisen U, Straube E, Straube A (December 2012). "Directional persistence of migrating cells requires Kif1C-mediated stabilization of trailing adhesions". Developmental Cell. 23 (6): 1153–66. doi:10.1016/j.devcel.2012.11.005. PMID 23237952.

[9] Nakajima K, Takei Y, Tanaka Y, Nakagawa T, Nakata T, Noda Y, et al. (February 2002). "Molecular motor KIF1C is not essential for mouse survival and motor-dependent retrograde Golgi apparatus-to-endoplasmic reticulum transport". Molecular and Cellular Biology. 22 (3): 866–73. doi:10.1128/MCB.22.3.866-873.2002. PMC 133549. PMID 11784862.

[10] Caballero Oteyza A, Battaloğlu E, Ocek L, Lindig T, Reichbauer J, Rebelo AP, et al. (June 2014). "Motor protein mutations cause a new form of hereditary spastic paraplegia". Neurology. 82 (22): 2007–16. doi:10.1212/WNL.0000000000000479. PMC 4105256. PMID 24808017.

[11] Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A, et al. (February 2014). "KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction". Journal of Medical Genetics. 51 (2): 137–42. doi:10.1136/jmedgenet-2013-102012. PMID 24319291. S2CID 24214406.

[12] Yücel-Yılmaz D, Yücesan E, Yalnızoğlu D, Oğuz KK, Sağıroğlu MŞ, Özbek U, et al. (June 2018). "Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span". Brain & Development. 40 (6): 458–464. doi:10.1016/j.braindev.2018.02.013. PMID 29544888. S2CID 3892411.

[13] Marchionni E, Méneret A, Keren B, Melki J, Denier C, Durr A, et al. (2019). "KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins". Tremor and Other Hyperkinetic Movements. 9. doi:10.7916/tohm.v0.641. PMC 6692767. PMID 31413903.

[pmid10559254-14] Dorner C, Ullrich A, Häring HU, Lammers R (November 1999). "The kinesin-like motor protein KIF1C occurs in intact cells as a dimer and associates with proteins of the 14-3-3 family". The Journal of Biological Chemistry. 274 (47): 33654–60. doi:10.1074/jbc.274.47.33654. PMID 10559254.

[pmid31217419-15] Siddiqui N, Zwetsloot AJ, Bachmann A, Roth D, Hussain H, Brandt J, et al. (June 2019). "PTPN21 and Hook3 relieve KIF1C autoinhibition and activate intracellular transport". Nature Communications. 10 (1): 2693. Bibcode:2019NatCo..10.2693S. doi:10.1038/s41467-019-10644-9. PMC 6584639. PMID 31217419.

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Interactions

References

Further reading

External links