KIF1B Gene

HGNC Family	Pleckstrin homology domain containing (PLEKH), Kinesins (KIF)
Name	kinesin family member 1B
Description	Enables plus-end-directed microtubule motor activity. Involved in apoptotic process involved in development and mitochondrion transport along microtubule. Is active in mitochondrion. Implicated in Charcot-Marie-Tooth disease type 2A1; hepatocellular carcinoma; multiple sclerosis; neuroblastoma; and ovary epithelial cancer. Biomarker of hepatocellular carcinoma. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n KIF1B, particularly its β‐isoform, plays multifaceted roles in neuronal function and cancer biology. Early studies identified KIF1Bβ as one of the few genes implicated in forms of peripheral neuropathy, suggesting a role in axonal integrity in the peripheral nervous system."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " More recent work has demonstrated that KIF1Bβ is a critical mediator of apoptosis; acting downstream of the prolyl hydroxylase EglN3, KIF1Bβ is both necessary and sufficient to induce neuronal apoptosis when nerve growth factor becomes limiting—a pathway whose disruption appears to predispose to neural crest–derived tumors such as neuroblastoma and pheochromocytoma, supporting a haploinsufficient tumor suppressor function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}, {"type": "t", "text": " In addition, genome‐wide association studies have linked intronic variants in KIF1B with susceptibility to hepatitis B virus–related hepatocellular carcinoma, implicating KIF1B‐related pathways in hepatocarcinogenesis"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "and with multiple sclerosis, wherein neuronal expression of KIF1B may contribute to irreversible axonal loss."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Finally, as a member of the kinesin‐3 family, KIF1Bβ has been shown to participate in microtubule‐dependent transport processes; for example, it cooperates with regulatory complexes such as BORC and the Arl8 GTPase to drive lysosome movement along peripheral, tyrosinated microtubule tracks."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Collectively, these observations highlight KIF1Bβ’s critical functions in mediating apoptosis, maintaining appropriate intracellular transport, and suppressing tumor development.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Annachiara De Sandre-Giovannoli, Malika Chaouch, Serguei Kozlov, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/339274"}], "href": "https://doi.org/10.1086/339274"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11799477"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11799477"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Susanne Schlisio, Rajappa S Kenchappa, Liesbeth C W Vredeveld, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Dev (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1101/gad.1648608"}], "href": "https://doi.org/10.1101/gad.1648608"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18334619"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18334619"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Arasambattu K Munirajan, Kiyohiro Ando, Akira Mukai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "KIF1Bbeta functions as a haploinsufficient tumor suppressor gene mapped to chromosome 1p36.2 by inducing apoptotic cell death."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M802316200"}], "href": "https://doi.org/10.1074/jbc.M802316200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18614535"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18614535"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Hongxing Zhang, Yun Zhai, Zhibin Hu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association study identifies 1p36.22 as a new susceptibility locus for hepatocellular carcinoma in chronic hepatitis B virus carriers."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.638"}], "href": "https://doi.org/10.1038/ng.638"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20676096"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20676096"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Yurii S Aulchenko, Ilse A Hoppenbrouwers, Sreeram V Ramagopalan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.251"}], "href": "https://doi.org/10.1038/ng.251"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18997785"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18997785"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Carlos M Guardia, Ginny G Farías, Rui Jia, et al. "}, {"type": "b", "children": [{"type": "t", "text": "BORC Functions Upstream of Kinesins 1 and 3 to Coordinate Regional Movement of Lysosomes along Different Microtubule Tracks."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2016.10.062"}], "href": "https://doi.org/10.1016/j.celrep.2016.10.062"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27851960"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27851960"}]}]}]}
Synonyms	CMT2A1, NBLST1, HMSNII, KLP
Proteins	KIF1B_HUMAN
NCBI Gene ID	23095
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

KIF1B has 9,496 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 139 datasets.

Click the + buttons to view associations for KIF1B from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

KIF1B Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by KIF1B gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of KIF1B gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of KIF1B gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of KIF1B gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of KIF1B gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of KIF1B gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of KIF1B gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of KIF1B gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of KIF1B gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of KIF1B gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of KIF1B gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with KIF1B protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with KIF1B gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of KIF1B gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of KIF1B gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of KIF1B gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with KIF1B gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with KIF1B gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing KIF1B protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of KIF1B gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing KIF1B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing KIF1B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing KIF1B protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing KIF1B protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with KIF1B protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with KIF1B protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of KIF1B gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with KIF1B gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with KIF1B gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with KIF1B gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with KIF1B gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of KIF1B protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by KIF1B gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving KIF1B gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving KIF1B gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with KIF1B gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with KIF1B gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with KIF1B gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with KIF1B gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with KIF1B gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.