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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KIF1B
kinesin family member 1B
Chromosome 1 · 1p36.22
NCBI Gene: 23095Ensembl: ENSG00000054523.21HGNC: HGNC:16636UniProt: O60333
126PubMed Papers
23Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plus-end-directed microtubule motor activityprotein bindingcytoplasmic vesicleATP hydrolysis activityCharcot-Marie-Tooth disease type 2A1neurodegenerative diseaseneuroblastomaAutosomal dominant Charcot-Marie-Tooth disease type 2A1
✦AI Summary

KIF1B encodes a plus-end-directed microtubule motor protein that functions in anterograde transport of mitochondria and other cellular components 1. The protein belongs to the kinesin family and is essential for axon growth and myelination in vertebrates 2. KIF1B demonstrates motor activity along microtubules, facilitating the transport of organelles and vesicles within neurons. Disease associations include neuroblastoma, where KIF1B undergoes homozygous deletion at chromosome 1.2, though mutational analysis suggests it may not be the primary tumor suppressor gene 1. Genetic polymorphisms in KIF1B, particularly rs17401966, show protective effects against hepatocellular carcinoma risk, especially in Chinese populations and HBV-positive individuals 345. Recent studies implicate KIF1B in inflammatory diseases, where it regulates NLRP3-mediated pyroptosis in asthma progression 6 and rare variants are linked to autoinflammatory Menière's disease 7. Additionally, polymorphisms in KIF1B show modest protective effects against multiple sclerosis, though replication studies have yielded mixed results 2. The gene's diverse roles span neuronal transport, tumor suppression, and inflammatory regulation.

Sources cited
1
KIF1B is a microtubule-based anterograde motor protein for mitochondrial transport in neural cells and undergoes homozygous deletion in neuroblastoma
PMID: 11526494
2
KIF1B protein is necessary for axon growth and myelination, with polymorphisms showing protective effects against multiple sclerosis
PMID: 21680216
3
KIF1B rs17401966 polymorphism shows protective effects against hepatocellular carcinoma risk
PMID: 23634229
4
G-allele of KIF1B rs17401966 is protective against HCC, especially in HBV-positive and Chinese populations
PMID: 30947687
5
Meta-analysis confirms significant association between KIF1B rs17401966 polymorphism and reduced HCC risk
PMID: 24952890
6
KIF1B regulates NLRP3-mediated pyroptosis in asthma progression and promotes inflammatory responses
PMID: 41384344
7
Ultra-rare KIF1B missense variant is linked to autoinflammatory Menière's disease
PMID: 40393993
Disease Associationsⓘ23
Charcot-Marie-Tooth disease type 2A1Open Targets
0.56Moderate
neurodegenerative diseaseOpen Targets
0.53Moderate
neuroblastomaOpen Targets
0.46Moderate
Autosomal dominant Charcot-Marie-Tooth disease type 2A1Open Targets
0.44Moderate
pheochromocytomaOpen Targets
0.42Moderate
hereditary pheochromocytoma-paragangliomaOpen Targets
0.37Weak
atrial fibrillationOpen Targets
0.34Weak
smoking behaviorOpen Targets
0.31Weak
neuroblastoma, susceptibility to, 1Open Targets
0.28Weak
Epidermal Inclusion CystOpen Targets
0.28Weak
cardiac arrestOpen Targets
0.27Weak
alcohol drinkingOpen Targets
0.27Weak
ovarian cancerOpen Targets
0.27Weak
Global developmental delayOpen Targets
0.27Weak
EEG abnormalityOpen Targets
0.27Weak
Exaggerated startle responseOpen Targets
0.27Weak
multiple endocrine neoplasia type 2AOpen Targets
0.27Weak
Abnormality of limbsOpen Targets
0.21Weak
heart diseaseOpen Targets
0.20Weak
Abnormality of the skeletal systemOpen Targets
0.20Weak
Charcot-Marie-Tooth disease, axonal, type 2A1UniProt
Neuroblastoma 1UniProt
PheochromocytomaUniProt
Pathogenic Variants2
NM_001365951.3(KIF1B):c.1036A>T (p.Arg346Ter)Pathogenic
Charcot-Marie-Tooth disease type 2A1
★☆☆☆2025→ Residue 346
NM_001365951.3(KIF1B):c.293A>T (p.Gln98Leu)Pathogenic
Charcot-Marie-Tooth disease type 2A1
☆☆☆☆2001→ Residue 98
View on ClinVar ↗
Related Genes
SDHDProtein interaction96%KIFBPProtein interaction89%TMEM127Protein interaction87%MFN2Protein interaction83%KLC2Protein interaction75%KLC1Protein interaction74%
Tissue Expression6 tissues
Brain
100%
Heart
34%
Ovary
14%
Bone Marrow
13%
Lung
12%
Liver
12%
Gene Interaction Network
Click a node to explore
KIF1BSDHDKIFBPTMEM127MFN2KLC2KLC1
PROTEIN STRUCTURE
Preparing viewer…
PDB2EH0 · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.38Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.30 [0.24–0.38]
RankingsWhere KIF1B stands among ~20K protein-coding genes
  • #3,726of 20,598
    Most Researched126 · top quartile
  • #4,286of 5,498
    Most Pathogenic Variants2
  • #1,781of 17,882
    Most Constrained (LOEUF)0.38 · top 10%
Genes detectedKIF1B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis · 2022
1.00
2
Genetic polymorphism of the kinesin-like protein KIF1B gene and the risk of hepatocellular carcinoma.
PMID: 23634229
PLoS One · 2013
0.90
3
Association between KIF1B rs17401966 genetic polymorphism and hepatocellular carcinoma susceptibility: an updated meta-analysis.
PMID: 30947687
BMC Med Genet · 2019
0.80
4
Genomic structure and mutational analysis of the human KIF1B gene which is homozygously deleted in neuroblastoma at chromosome 1p36.2.
PMID: 11526494
Oncogene · 2001
0.70
5
Association between KIF1B rs17401966 polymorphism and hepatocellular carcinoma risk: a meta-analysis involving 17,210 subjects.
PMID: 24952890
Tumour Biol · 2014
0.60