KIF1C

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] It takes processive 8nm steps along microtubules and can generate forces of up to 5 pN.^[8] Kif1C transports α5β1-integrins in human cells.^[9] Kif1C has been shown to be non-essential in mouse with other proteins able to perform the same function.^[10] However, mutations in KIF1C lead to spastic paraplegia and cerebellar dysfunction in humans.^{[11][12][13][14]} These mutations usually result in a total loss of the protein or (partial) loss of function, such as significant lower force output.^[15]

PDBOrtholog search: PDBe RCSB

AliasesKIF1C, LTXS1, SATX2, SAX2, SPAX2, SPG58, kinesin family member 1C

External IDsOMIM: 603060; MGI: 1098260; HomoloGene: 4821; GeneCards: KIF1C; OMA:KIF1C - orthologs

Chr.Chromosome 17 (human)^[1]

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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)[1] Band 17p13.2 Start 4,997,950 bp[1] End 5,028,401 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 B3 Start 70,700,548 bp[2] End 70,731,964 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in C1 segment gastrocnemius muscle muscle of thigh apex of heart left ventricle right auricle of heart 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 BioGPS 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 Species Human Mouse Entrez 10749 16562 Ensembl ENSG00000129250 ENSMUSG00000020821 UniProt O43896 O35071 RefSeq (mRNA) NM_006612 NM_153103 RefSeq (protein) NP_006603 NP_694743 Location (UCSC) Chr 17: 5 – 5.03 Mb Chr 11: 70.7 – 70.73 Mb PubMed search [3] [4]
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