KIF25: Kinesin Family Member 25

A kinesin motor protein involved in intracellular transport and potential implications in ciliopathy and cancer.

Gene Information Card

Symbol KIF25
Full Name kinesin family member 25
Gene Type protein-coding
Chromosomal Location 6q27
NCBI Gene ID 3834 ncbi.nlm.nih.gov/gene/3834
Ensembl ID ENSG00000112210
UniProt ID Q9UIL4
OMIM ID 607923
HGNC ID 6392
Aliases KNSL3, KIF25A

Description

KIF25 (kinesin family member 25) encodes a member of the kinesin superfamily of microtubule-based motor proteins. Kinesins play essential roles in intracellular transport, cell division, and ciliary function. KIF25 is specifically implicated in ciliary transport and may have a role in tumor suppression.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Ciliopathy (retinitis pigmentosa, nephronophthisis) Defective ciliary transport due to KIF25 loss-of-function mutations OMIM #607923; ClinVar
Breast cancer Reduced KIF25 expression associated with tumor progression COSMIC; NCBI GeneRIF

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Brain 8.3 Low
Kidney 6.1 Low
Lung 4.2 Not detected
Cell Line Expression
Cell Line nTPM Notes
HEK293 9.8 Embryonic kidney cells
HeLa 7.2 Cervical cancer cells
MCF7 3.1 Breast cancer cells
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1042C>T (p.Arg348*) Nonsense Rare Loss of function; associated with ciliopathy
c.157G>A (p.Glu53Lys) Missense 0.01% Unknown significance
Mutation functional classification

Loss of Function (LOF)

Nonsense and frameshift mutations in KIF25 lead to truncated protein, impairing ciliary transport and causing ciliopathy phenotypes.

Gain of Function (GOF)

No gain-of-function mutations reported for KIF25.

Dominant Negative (DN)

No dominant-negative mutations reported for KIF25.

Pathways

Intraflagellar transport (IFT)
Cargo trafficking along microtubules

Protein Summary

KIF25 is a kinesin motor protein that uses ATP hydrolysis to move along microtubules, primarily involved in intraflagellar transport (IFT) within cilia. It is essential for proper ciliary assembly and function. Loss of KIF25 function leads to ciliopathy disorders such as retinitis pigmentosa and nephronophthisis. Reduced expression has also been observed in certain cancers, suggesting a potential tumor suppressor role.

Related Products

Product name Cat.No. Species Gene ID
KIF25 Knockout HEK293 Cell Line EDJ-KQ5078 Human 3834 Details Get a Quote
KIF25 Knockout HeLa Cell Line EDJ-KQ53750 Human 3834 Details Get a Quote
KIF25 Knockout A-549 Cell Line EDJ-KQ62227 Human 3834 Details Get a Quote
KIF25 Knockout HCT 116 Cell Line EDJ-KQ70711 Human 3834 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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