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Aliases for KIF1B Gene

Aliases for KIF1B Gene

  • Kinesin Family Member 1B 2 3 5
  • Kinesin Superfamily Protein KIF1B 3
  • Kinesin-Like Protein KIF1B 3
  • KIAA0591 4
  • KIAA1448 4
  • CMT2A1 3
  • HMSNII 3
  • NBLST1 3
  • CMT2A 3
  • CMT2 3
  • KLP 3
  • Klp 4

External Ids for KIF1B Gene

Previous HGNC Symbols for KIF1B Gene

  • CMT2A
  • CMT2

Previous GeneCards Identifiers for KIF1B Gene

  • GC01P010232
  • GC01P010114
  • GC01P009880
  • GC01P009980
  • GC01P010205
  • GC01P010193
  • GC01P009426

Summaries for KIF1B Gene

Entrez Gene Summary for KIF1B Gene

  • This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1. [provided by RefSeq, Jul 2008]

GeneCards Summary for KIF1B Gene

KIF1B (Kinesin Family Member 1B) is a Protein Coding gene. Diseases associated with KIF1B include Charcot-Marie-Tooth Disease, Axonal, Type 2A1 and Neuroblastoma. Among its related pathways are Reelin Pathway (Cajal-Retzius cells) and Cytoskeletal Signaling. Gene Ontology (GO) annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is KIF1A.

UniProtKB/Swiss-Prot for KIF1B Gene

  • Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility. Isoform 2 is required for induction of neuronal apoptosis.

Gene Wiki entry for KIF1B Gene

Additional gene information for KIF1B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIF1B Gene

Genomics for KIF1B Gene

GeneHancer (GH) Regulatory Elements for KIF1B Gene

Promoters and enhancers for KIF1B Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J010208 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 666.5 +0.5 490 6 FOXA2 PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B KIF1B ENSG00000226849 EXOSC10 TARDBP PGD LZIC RNU6-37P ENSG00000271895 RBP7 MIR1273D
GH01J010232 Promoter 0.5 EPDnew 650.3 +21.6 21637 0.1 KIF1B RNU6-828P MIR1273D GC01M010233
GH01J010233 Promoter 0.5 EPDnew 650.3 +21.5 21514 0.1 KIF1B RNU6-828P MIR1273D GC01M010233
GH01J010250 Enhancer 0.9 Ensembl ENCODE 16.8 +42.7 42714 5.2 HDAC1 MEIS2 KLF1 PKNOX1 INSM2 FEZF1 ZBTB40 ZNF664 ZNF121 GATA3 PGD KIF1B RNU6-37P RNU6-828P CTNNBIP1 NMNAT1 GC01M010233 GC01P010298
GH01J010215 Enhancer 0.9 Ensembl dbSUPER 16 +5.5 5495 1.2 ZNF362 FOXA2 ZNF189 ZNF384 FEZF1 ZNF507 ZNF217 ZNF664 PRDM6 ZNF213 KIF1B MIR1273D
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIF1B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KIF1B gene promoter:
  • E47
  • RREB-1
  • Tal-1beta
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • Bach1
  • AML1a
  • Nkx5-1

Genomic Locations for KIF1B Gene

Genomic Locations for KIF1B Gene
170,898 bases
Plus strand
170,898 bases
Plus strand

Genomic View for KIF1B Gene

Genes around KIF1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIF1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIF1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIF1B Gene

Proteins for KIF1B Gene

  • Protein details for KIF1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Kinesin-like protein KIF1B
    Protein Accession:
    Secondary Accessions:
    • A6NFS8
    • A6NKQ4
    • Q4VXC3
    • Q4VXC4
    • Q4VXC5
    • Q4VXC6
    • Q96Q94
    • Q9BV80
    • Q9P280

    Protein attributes for KIF1B Gene

    1816 amino acids
    Molecular mass:
    204476 Da
    Quaternary structure:
    • Interacts (via C-terminus end of the kinesin-motor domain) with CHP1; the interaction occurs in a calcium-dependent manner (By similarity). Interacts with KBP.
    • Sequence=AAH01415.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAP35838.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA25517.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA95972.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB69038.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KIF1B Gene

    Alternative splice isoforms for KIF1B Gene


neXtProt entry for KIF1B Gene

Post-translational modifications for KIF1B Gene

  • Ubiquitination at isoforms=930
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KIF1B Gene

Domains & Families for KIF1B Gene

Gene Families for KIF1B Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for KIF1B Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Unc-104 subfamily.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Unc-104 subfamily.
genes like me logo Genes that share domains with KIF1B: view

Function for KIF1B Gene

Molecular function for KIF1B Gene

UniProtKB/Swiss-Prot Function:
Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility. Isoform 2 is required for induction of neuronal apoptosis.

Phenotypes From GWAS Catalog for KIF1B Gene

Gene Ontology (GO) - Molecular Function for KIF1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity IEA,ISS --
GO:0005515 protein binding IPI,IEA 15324660
GO:0005524 ATP binding IEA --
GO:0008017 microtubule binding IEA --
genes like me logo Genes that share ontologies with KIF1B: view
genes like me logo Genes that share phenotypes with KIF1B: view

Human Phenotype Ontology for KIF1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIF1B Gene

MGI Knock Outs for KIF1B:

Animal Model Products

  • Taconic Biosciences Mouse Models for KIF1B

miRNA for KIF1B Gene

miRTarBase miRNAs that target KIF1B

Clone Products

  • Addgene plasmids for KIF1B

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KIF1B Gene

Localization for KIF1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIF1B Gene

Cytoplasmic vesicle. Cytoplasm, cytoskeleton. Mitochondrion. Note=Colocalizes with synaptophysin at synaptic cytoplasmic transport vesicles in the neurites of hippocampal neurons. {ECO:0000250}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIF1B gene
Compartment Confidence
cytoskeleton 5
mitochondrion 4
cytosol 4
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoli fibrillar center (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KIF1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005856 cytoskeleton IEA --
GO:0005871 kinesin complex IBA --
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with KIF1B: view

Pathways & Interactions for KIF1B Gene

genes like me logo Genes that share pathways with KIF1B: view

Gene Ontology (GO) - Biological Process for KIF1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0007018 microtubule-based movement IEA,ISS --
GO:0007270 neuron-neuron synaptic transmission ISS --
GO:0007274 neuromuscular synaptic transmission ISS --
GO:0008089 anterograde axonal transport ISS --
genes like me logo Genes that share ontologies with KIF1B: view

No data available for SIGNOR curated interactions for KIF1B Gene

Drugs & Compounds for KIF1B Gene

No Compound Related Data Available

Transcripts for KIF1B Gene

mRNA/cDNA for KIF1B Gene

Unigene Clusters for KIF1B Gene

Kinesin family member 1B:
Representative Sequences:

Clone Products

  • Addgene plasmids for KIF1B

Alternative Splicing Database (ASD) splice patterns (SP) for KIF1B Gene

No ASD Table

Relevant External Links for KIF1B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KIF1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KIF1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIF1B Gene

This gene is overexpressed in Muscle - Skeletal (x5.0).

Protein differential expression in normal tissues from HIPED for KIF1B Gene

This gene is overexpressed in Cervix (26.6), Brain (16.1), and Heart (11.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KIF1B Gene

NURSA nuclear receptor signaling pathways regulating expression of KIF1B Gene:


SOURCE GeneReport for Unigene cluster for KIF1B Gene:


mRNA Expression by UniProt/SwissProt for KIF1B Gene:

Tissue specificity: Isoform 3 is abundant in the skeletal muscle. It is also expressed in fetal brain, lung and kidney, and adult heart, placenta, testis, ovary and small intestine. Isoform 2 is abundant in the brain and also expressed in fetal heart, lung, liver and kidney, and adult skeletal muscle, placenta, liver, kidney, heart, spleen, thymus, prostate, testis, ovary, small intestine, colon and pancreas.

Evidence on tissue expression from TISSUES for KIF1B Gene

  • Nervous system(5)
  • Liver(4.2)
  • Muscle(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KIF1B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • heart
  • heart valve
  • lung
  • adrenal gland
  • kidney
  • arm
  • digit
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with KIF1B: view

No data available for Protein tissue co-expression partners for KIF1B Gene

Orthologs for KIF1B Gene

This gene was present in the common ancestor of animals.

Orthologs for KIF1B Gene

Organism Taxonomy Gene Similarity Type Details
(Ornithorhynchus anatinus)
Mammalia KIF1B 34
  • 93 (a)
(Monodelphis domestica)
Mammalia KIF1B 34
  • 93 (a)
(Canis familiaris)
Mammalia KIF1B 34 33
  • 92.77 (n)
(Bos Taurus)
Mammalia KIF1B 34 33
  • 92.37 (n)
(Mus musculus)
Mammalia Kif1b 16 34 33
  • 90.55 (n)
(Rattus norvegicus)
Mammalia Kif1b 33
  • 90.32 (n)
(Pan troglodytes)
Mammalia KIF1B 34
  • 62 (a)
(Gallus gallus)
Aves KIF1B 34 33
  • 82.13 (n)
(Anolis carolinensis)
Reptilia KIF1B 34
  • 88 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia kif1b 33
  • 77.88 (n)
(Danio rerio)
Actinopterygii kif1b 34 33
  • 76.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta unc-104 34 35
  • 56 (a)
neb 35
  • 32 (a)
(Caenorhabditis elegans)
Secernentea unc-104 34
  • 53 (a)
klp-6 35
  • 40 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
Cin.583 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.583 33
Species where no ortholog for KIF1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KIF1B Gene

Gene Tree for KIF1B (if available)
Gene Tree for KIF1B (if available)
Evolutionary constrained regions (ECRs) for KIF1B: view image

Paralogs for KIF1B Gene

Paralogs for KIF1B Gene

(7) SIMAP similar genes for KIF1B Gene using alignment to 1 proteins:

  • KIF1B_HUMAN Pseudogenes for KIF1B Gene

genes like me logo Genes that share paralogs with KIF1B: view

Variants for KIF1B Gene

Sequence variations from dbSNP and Humsavar for KIF1B Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1002076 benign, Charcot-Marie-Tooth, Type 2, Neuroblastoma, Pheochromocytoma 10,378,834(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1050404010 uncertain-significance, Pheochromocytoma, Neuroblastoma, Charcot-Marie-Tooth, Type 2 10,379,621(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1060501912 uncertain-significance, Charcot-Marie-Tooth disease, type 2 10,376,558(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1060501913 uncertain-significance, Charcot-Marie-Tooth disease, type 2 10,291,154(+) A/G coding_sequence_variant, missense_variant
rs1060501914 uncertain-significance, Charcot-Marie-Tooth disease, type 2 10,278,127(+) T/C coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for KIF1B Gene

Variant ID Type Subtype PubMed ID
dgv1n17 CNV loss 16327808
esv23835 CNV loss 19812545
esv2421759 CNV deletion 20811451
esv2550823 CNV deletion 19546169
esv2657507 CNV deletion 23128226
esv2743641 CNV deletion 23290073
esv2743652 CNV deletion 23290073
esv2758920 CNV gain+loss 17122850
esv2764182 CNV loss 21179565
esv2764192 CNV gain 21179565
esv3577732 CNV loss 25503493
esv3585199 CNV loss 21293372
esv3890859 CNV loss 25118596
esv4531 CNV loss 18987735
nsv1003027 CNV loss 25217958
nsv1011917 CNV loss 25217958
nsv1126977 CNV deletion 24896259
nsv1129867 CNV deletion 24896259
nsv1130268 CNV deletion 24896259
nsv2409 CNV insertion 18451855
nsv436146 CNV deletion 17901297
nsv437970 CNV loss 16468122
nsv441678 CNV loss 18776908
nsv477279 CNV novel sequence insertion 20440878
nsv513981 CNV loss 21397061
nsv515546 CNV loss 19592680
nsv545381 CNV gain 21841781
nsv545382 CNV loss 21841781
nsv545383 CNV loss 21841781
nsv545384 CNV loss 21841781
nsv8102 CNV loss 18304495
nsv818666 CNV loss 17921354

Variation tolerance for KIF1B Gene

Residual Variation Intolerance Score: 0.873% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.28; 70.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KIF1B Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIF1B Gene

Disorders for KIF1B Gene

MalaCards: The human disease database

(28) MalaCards diseases for KIF1B Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, axonal, type 2a1
  • cmt2a1
  • neuroblastoma, susceptibility to
charcot-marie-tooth disease
  • charcot marie tooth muscular atrophy
  • pheochromocytoma, susceptibility to
hereditary paraganglioma-pheochromocytoma syndromes
  • paragangliomas 4
- elite association - COSMIC cancer census association via MalaCards
Search KIF1B in MalaCards View complete list of genes associated with diseases


  • Charcot-Marie-Tooth disease 2A1 (CMT2A1) [MIM:118210]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:11389829}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neuroblastoma 1 (NBLST1) [MIM:256700]: A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Pheochromocytoma (PCC) [MIM:171300]: A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. {ECO:0000269 PubMed:18334619}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for KIF1B

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KIF1B: view

No data available for Genatlas for KIF1B Gene

Publications for KIF1B Gene

  1. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. (PMID: 11389829) Zhao C … Hirokawa N (Cell 2001) 2 3 4 22 58
  2. Identification of the full-length KIAA0591 gene encoding a novel kinesin-related protein which is mapped to the neuroblastoma suppressor gene locus at 1p36.2. (PMID: 10762626) Nagai M … Nakagawara A (International journal of oncology 2000) 2 3 4 22 58
  3. Lack of replication of KIF1B gene in an Italian primary progressive multiple sclerosis cohort. (PMID: 20067515) Martinelli-Boneschi F … Comi G (European journal of neurology 2010) 3 22 44 58
  4. Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis. (PMID: 18997785) Aulchenko YS … Hintzen RQ (Nature genetics 2008) 3 22 44 58
  5. Genomic structure and mutational analysis of the human KIF1Balpha gene located at 1p36.2 in neuroblastoma. (PMID: 12888911) Chen YY … Hayashi Y (International journal of oncology 2003) 3 4 22 58

Products for KIF1B Gene

Sources for KIF1B Gene

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