KIFC1

Kinesin Family Member C1, a minus-end-directed microtubule motor protein involved in centrosome clustering and mitotic spindle assembly

Gene Information Card

Symbol KIFC1
Full Name kinesin family member C1
Gene Type protein-coding
Chromosomal Location 6p21.32
NCBI Gene ID 3833 ncbi.nlm.nih.gov/gene/3833
Ensembl ID ENSG00000112742
UniProt ID Q9BW19
OMIM ID 603763
HGNC ID 6389
Aliases HSET, KNSL2, KIFC1A

Description

KIFC1 (kinesin family member C1) encodes a minus-end-directed kinesin motor protein that plays a critical role in centrosome clustering, bipolar spindle assembly, and chromosome segregation during mitosis. It is overexpressed in various cancers and is considered a potential therapeutic target due to its essential function in cancer cells with supernumerary centrosomes.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast cancer Overexpression of KIFC1 promotes centrosome clustering, enabling survival of aneuploid cells PMID: 24755471
Ovarian cancer KIFC1 upregulation correlates with poor prognosis and resistance to chemotherapy PMID: 29367642
Glioblastoma KIFC1 is required for mitotic fidelity in glioblastoma stem-like cells PMID: 31085178
Lung adenocarcinoma KIFC1 overexpression associated with tumor progression and metastasis PMID: 31591465

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Bone marrow 8.3 Low
Lymph node 6.1 Low
Brain 4.2 Low
Breast 3.8 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 15.2 Cervical cancer cell line; high expression
MCF7 12.8 Breast cancer cell line; moderate expression
A549 10.5 Lung cancer cell line; moderate expression
U2OS 14.1 Osteosarcoma cell line; high expression
HEK293 7.3 Embryonic kidney cell line; low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1045C>T (p.Arg349Trp) Missense <0.01% (gnomAD) Unknown functional effect; not reported in COSMIC
c.1720G>A (p.Glu574Lys) Missense <0.01% (gnomAD) Unknown functional effect; not reported in COSMIC
c.1960_1961insA (p.Thr654AsnfsTer2) Frameshift <0.01% (gnomAD) Predicted loss of function; not reported in COSMIC
Mutation functional classification

Loss of Function (LOF)

Frameshift insertion c.1960_1961insA leads to premature stop codon, likely resulting in nonsense-mediated decay or truncated non-functional protein.

Gain of Function (GOF)

No gain-of-function mutations have been reported in KIFC1.

Dominant Negative (DN)

No dominant-negative mutations have been characterized for KIFC1.

Pathways

• Kinesins (Reactome: R-HSA-983189)
• Mitotic Prometaphase (Reactome: R-HSA-68877)
• Resolution of Sister Chromatid Cohesion (Reactome: R-HSA-2500257)

Protein Summary

KIFC1 is a 673-amino-acid protein with a kinesin motor domain at the N-terminus that moves along microtubules toward the minus end. It localizes to centrosomes and the mitotic spindle, where it crosslinks and slides microtubules to facilitate centrosome clustering and bipolar spindle formation. KIFC1 is essential for the viability of cancer cells with extra centrosomes, making it a target for anti-cancer therapies.

Related Products

Product name Cat.No. Species Gene ID
KIFC1 Knockout HEK293 Cell Line EDJ-KQ3077 Human 3833 Details Get a Quote
KIFC1 Knockout A-549 Cell Line EDJ-KQ22988 Human 3833 Details Get a Quote
KIFC1 Knockout HCT 116 Cell Line EDJ-KQ24367 Human 3833 Details Get a Quote
KIFC1 Knockout HeLa Cell Line EDJ-KQ24368 Human 3833 Details Get a Quote
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