HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KIFAP3
kinesin associated protein 3
Chromosome 1 · 1q24.2
NCBI Gene: 22920Ensembl: ENSG00000075945.13HGNC: HGNC:17060UniProt: A0AAQ5BGI3
68PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
spindle microtubuleprotein bindingkinesin bindingprotein phosphatase bindingneurodegenerative diseaseatrial fibrillationAbnormality of the skeletal systemvenous thromboembolism
✦AI Summary

KIFAP3 (kinesin-associated protein 3) is a component of the kinesin II motor complex involved in microtubule-based cellular transport and ciliary function. The protein binds to the tail domain of KIF3A/KIF3B heterodimers to form a functional heterotrimeric complex and regulates its membrane association, facilitating processes including spindle pole organization, chromosome 1, and plus-end-directed vesicle transport 1. In amyotrophic lateral sclerosis (ALS), KIFAP3 variants show complex disease associations. Initial genome-wide analysis identified SNP rs1541160, where the favorable CC genotype correlated with reduced KIFAP3 expression and 14-month survival advantage in sporadic ALS 2. However, this finding demonstrated inconsistent replication across independent cohorts 31. The CC genotype was associated with upper motor neuron-predominant ALS phenotype, suggesting KIFAP3 modifies clinical presentation rather than overall survival universally 4. Beyond ALS, KIFAP3 variants associate with endometriosis and fat distribution through WNT signaling pathways 5. A long noncoding RNA derived from KIFAP3 (KIFAP3-5:1) suppresses epithelial-mesenchymal transition in diabetic nephropathy by targeting PRRX1, with plasma levels correlating with renal dysfunction severity 6. Additionally, KIFAP3 mutations may contribute to basal cell carcinoma development through ciliary dysfunction affecting Hedgehog signaling 7.

Sources cited
1
KIFAP3 SNP rs1541160 CC genotype associated with reduced KIFAP3 expression and improved survival in sporadic ALS
PMID: 19451621
2
Large multicenter survival analysis failed to replicate beneficial effect of rs1541160 genotype on ALS survival
PMID: 24838185
3
KIFAP3 rs1541160 association with ALS survival may be population-specific; replication failure in Swiss/Swedish cohort
PMID: 28140676
4
KIFAP3 CC genotype associated with upper motor neuron-predominant ALS phenotype
PMID: 21659726
5
KIFAP3 variants associated with endometriosis and fat distribution through WNT signaling pathway
PMID: 25296917
6
KIFAP3-5:1 lncRNA inhibits epithelial-mesenchymal transition in diabetic nephropathy via PRRX1 suppression
PMID: 38869718
7
KIFAP3 mutations may contribute to basal cell carcinoma through ciliary dysfunction affecting Hedgehog signaling
PMID: 34674729
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.53Moderate
atrial fibrillationOpen Targets
0.46Moderate
Abnormality of the skeletal systemOpen Targets
0.42Moderate
venous thromboembolismOpen Targets
0.41Moderate
deep vein thrombosisOpen Targets
0.40Weak
ThrombophlebitisOpen Targets
0.31Weak
PhlebitisOpen Targets
0.31Weak
heart diseaseOpen Targets
0.29Weak
blood coagulation diseaseOpen Targets
0.25Weak
ThromboembolismOpen Targets
0.25Weak
multiple sclerosisOpen Targets
0.23Weak
thrombophiliaOpen Targets
0.21Weak
MODYOpen Targets
0.11Weak
type 1 diabetes mellitusOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.09Suggestive
malignant pleural mesotheliomaOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.08Suggestive
cardiac arrhythmiaOpen Targets
0.08Suggestive
atrial flutterOpen Targets
0.08Suggestive
thyroid cancerOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KIF3CProtein interaction100%ARHGEF4Protein interaction100%DCTN1Protein interaction93%KIF11Protein interaction87%KLC1Protein interaction86%IFT88Protein interaction86%
Tissue Expression6 tissues
Brain
100%
Heart
85%
Ovary
24%
Bone Marrow
15%
Lung
15%
Liver
11%
Gene Interaction Network
Click a node to explore
KIFAP3KIF3CARHGEF4DCTN1KIF11KLC1IFT88
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q92845
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.01LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.69 [0.49–1.01]
RankingsWhere KIFAP3 stands among ~20K protein-coding genes
  • #6,909of 20,598
    Most Researched68
  • #9,763of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedKIFAP3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Further analysis of KIFAP3 gene in ALS patients from Switzerland and Sweden.
PMID: 28140676
Amyotroph Lateral Scler Frontotemporal Degener · 2017
1.00
2
LncRNA KIFAP3-5:1 inhibits epithelial-mesenchymal transition of renal tubular cell through PRRX1 in diabetic nephropathy.
PMID: 38869718
Cell Biol Toxicol · 2024
0.90
3
Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma.
PMID: 34674729
Orphanet J Rare Dis · 2021
0.80
4
Genome-wide enrichment analysis between endometriosis and obesity-related traits reveals novel susceptibility loci.
PMID: 25296917
Hum Mol Genet · 2015
0.70
5
Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study.
PMID: 24838185
Neurobiol Aging · 2014
0.60