KIFC3

Kinesin Family Member C3, a minus-end-directed microtubule motor protein

Gene Information Card

Symbol KIFC3
Full Name kinesin family member C3
Gene Type protein-coding
Chromosomal Location 16q13-q21
NCBI Gene ID 3801 ncbi.nlm.nih.gov/gene/3801
Ensembl ID ENSG00000103168
UniProt ID O14782
OMIM ID 603845
HGNC ID 6320
Aliases KNSL8, KIFC3A, KIFC3B

Description

KIFC3 encodes a member of the kinesin-14 family of microtubule motor proteins. This protein moves toward the minus end of microtubules and is involved in various cellular processes including vesicle transport, spindle organization during mitosis, and ciliary assembly. It is widely expressed in human tissues.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various) Altered expression and mutations may contribute to tumorigenesis through disrupted cell division and transport. COSMIC database reports somatic mutations in multiple cancer types.
Primary ciliary dyskinesia (possible) Defects in ciliary function due to KIFC3 dysfunction may impair mucociliary clearance. Limited evidence; functional studies in model organisms suggest role in ciliogenesis.

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 28.5 High
Brain 12.3 Medium
Lung 9.8 Medium
Liver 6.2 Low
Heart 5.1 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 15.2 Cervical cancer cell line
A549 11.7 Lung cancer cell line
HEK293 9.4 Embryonic kidney cells
K562 7.8 Leukemia cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
p.Glu117Lys Missense 0.02% (COSMIC) Unknown; possibly benign
p.Arg456* Nonsense 0.01% (COSMIC) Likely loss of function
c.1234_1235insA Frameshift insertion 0.005% (COSMIC) Predicted loss of function
Mutation functional classification

Loss of Function (LOF)

Nonsense and frameshift mutations are predicted to cause loss of function.

Gain of Function (GOF)

No evidence for gain-of-function mutations.

Dominant Negative (DN)

Not reported.

Gene Ontology (GO)

• microtubule motor activity • ATP binding
• microtubule binding • minus-end-directed microtubule movement
• vesicle transport along microtubule • mitotic spindle organization
• ciliary assembly

Pathways

• Kinesin-mediated transport
• Microtubule-dependent transport
• Cargo trafficking in cilia

Protein Summary

KIFC3 is a 110 kDa protein belonging to the kinesin-14 family. It contains an N-terminal motor domain that binds microtubules and hydrolyzes ATP to generate force toward the minus end. The protein also has a coiled-coil stalk domain and a C-terminal tail domain involved in cargo binding. It localizes to the Golgi apparatus, centrosomes, and ciliary basal bodies.

Related Products

Product name Cat.No. Species Gene ID
KIFC3 Knockout HEK293 Cell Line EDJ-KQ5059 Human 3801 Details Get a Quote
KIFC3 Knockout A-549 Cell Line EDJ-KQ27968 Human 3801 Details Get a Quote
KIFC3 Knockout HCT 116 Cell Line EDJ-KQ27969 Human 3801 Details Get a Quote
KIFC3 Knockout HeLa Cell Line EDJ-KQ27970 Human 3801 Details Get a Quote
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