Human Gene KIF1B (uc001aqv.2)
  Description: kinesin family member 1B isoform alpha
RefSeq Summary (NM_183416): 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].
Transcript (Including UTRs)
   Position: hg18 chr1:10,193,351-10,291,242 Size: 97,892 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg18 chr1:10,214,974-10,287,292 Size: 72,319 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2009-03-03

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr1:10,193,351-10,291,242)mRNA (may differ from genome)Protein (1153 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Kinesin-like protein KIF1B; Short=Klp;
FUNCTION: Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility. Isoform 2 is required for induction of neuronal apoptosis.
SUBUNIT: 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.
INTERACTION: Q12959:DLG1; NbExp=4; IntAct=EBI-465669, EBI-357481; Q63622:Dlg2 (xeno); NbExp=3; IntAct=EBI-465669, EBI-396947; P78352:DLG4; NbExp=4; IntAct=EBI-465669, EBI-80389; Q96QZ7:MAGI1; NbExp=3; IntAct=EBI-465669, EBI-924464;
SUBCELLULAR LOCATION: Cytoplasmic vesicle (By similarity). Cytoplasm, cytoskeleton (By similarity). Mitochondrion. Note=Colocalizes with synaptophysin at synaptic cytoplasmic transport vesicles in the neurites of hippocampal neurons (By similarity).
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.
DISEASE: Defects in KIF1B are the cause of Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]. CMT2A1 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
DISEASE: Defects in KIF1B are the cause of susceptibility to neuroblastoma type 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.
DISEASE: Defects in KIF1B are a cause of susceptibility to 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.
SIMILARITY: Belongs to the kinesin-like protein family. Unc-104 subfamily.
SIMILARITY: Contains 1 FHA domain.
SIMILARITY: Contains 1 kinesin-motor domain.
SIMILARITY: Contains 1 PH domain.
SEQUENCE CAUTION: Sequence=AAH01415.1; Type=Erroneous initiation; Sequence=AAP35838.1; Type=Erroneous initiation; Sequence=BAA25517.2; Type=Erroneous initiation; Sequence=BAA95972.2; Type=Erroneous initiation; Sequence=BAB69038.1; Type=Erroneous initiation;
WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db; URL="";
WEB RESOURCE: Name=GeneReviews; URL="";

-  Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KIF1B
CDC HuGE Published Literature: KIF1B

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D004997 Ethinyl Estradiol
  • D013749 Tetrachlorodibenzodioxin
  • C008261 lead acetate
  • C036990 2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline
  • C030370 2-methoxy-5-(2',3',4'-trimethoxyphenyl)tropone
  • C012606 4-vinyl-1-cyclohexene dioxide
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • C547126 AZM551248
  • D016604 Aflatoxin B1
  • D000643 Ammonium Chloride
          more ... click here to view the complete list

-  Microarray Expression Data
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips


Affymetrix All Exon Microarrays


-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -113.50252-0.450 Picture PostScript Text
3' UTR -1147.203950-0.290 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000253 - FHA_dom
IPR022140 - KIF1B
IPR022164 - Kinesin-like
IPR019821 - Kinesin_motor_CS
IPR001752 - Kinesin_motor_dom
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR008984 - SMAD_FHA_domain

Pfam Domains:
PF00225 - Kinesin motor domain
PF00498 - FHA domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

ModBase Predicted Comparative 3D Structure on O60333
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserNo orthologGenome BrowserNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
Protein Sequence Protein Sequence  Protein Sequence
Alignment Alignment  Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003777 microtubule motor activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008017 microtubule binding
GO:0016887 ATPase activity
GO:0019894 kinesin binding
GO:0019900 kinase binding
GO:0097110 scaffold protein binding
GO:1990939 ATP-dependent microtubule motor activity

Biological Process:
GO:0006915 apoptotic process
GO:0007018 microtubule-based movement
GO:0007270 neuron-neuron synaptic transmission
GO:0007274 neuromuscular synaptic transmission
GO:0008089 anterograde axonal transport
GO:0010628 positive regulation of gene expression
GO:0010970 transport along microtubule
GO:0030705 cytoskeleton-dependent intracellular transport
GO:0032418 lysosome localization
GO:0047497 mitochondrion transport along microtubule
GO:1904647 response to rotenone
GO:1990048 anterograde neuronal dense core vesicle transport
GO:1990049 retrograde neuronal dense core vesicle transport
GO:1990090 cellular response to nerve growth factor stimulus
GO:1990778 protein localization to cell periphery

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005856 cytoskeleton
GO:0005871 kinesin complex
GO:0005874 microtubule
GO:0005875 microtubule associated complex
GO:0016020 membrane
GO:0030659 cytoplasmic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0043005 neuron projection
GO:1904115 axon cytoplasm

-  Descriptions from all associated GenBank mRNAs
  AK308121 - Homo sapiens cDNA, FLJ98069.
AY139835 - Homo sapiens kinesin superfamily protein (KIF1B-alpha) mRNA, complete cds.
AF257176 - Homo sapiens kinesin superfamily protein KIF1B mRNA, complete cds.
AB011163 - Homo sapiens mRNA for KIAA0591 protein, partial cds.
AB040881 - Homo sapiens KIAA1448 mRNA for KIAA1448 protein.
BC115395 - Homo sapiens kinesin family member 1B, mRNA (cDNA clone MGC:134844 IMAGE:40067993), complete cds.
AB017133 - Homo sapiens KIAA0591/KIF1Bbeta mRNA, complete cds.
AY043362 - Homo sapiens kinesin superfamily protein 1B (KIF1B) mRNA, complete cds.
AB384601 - Synthetic construct DNA, clone: pF1KA1448, Homo sapiens KIF1B gene for kinesin family member 1B, complete cds, without stop codon, in Flexi system.
AB384504 - Synthetic construct DNA, clone: pF1KA0591, Homo sapiens KIF1B gene for kinesin family member 1B, complete cds, without stop codon, in Flexi system.
AB088210 - Homo sapiens KIF1Bbeta mRNA for kinesin family member 1Bbeta isoform I, complete cds.
AB088211 - Homo sapiens KIF1Bbeta mRNA for kinesin family member 1Bbeta isoform II, complete cds.
AB088212 - Homo sapiens KIF1Bbeta mRNA for kinesin family member 1Bbeta isoform III, complete cds.
AB088213 - Homo sapiens KIF1Bbeta mRNA for kinesin family member 1Bbeta isoform IV, complete cds.
LP895698 - Sequence 562 from Patent EP3253886.
JD210303 - Sequence 191327 from Patent EP1572962.
JD199364 - Sequence 180388 from Patent EP1572962.
AK023184 - Homo sapiens cDNA FLJ13122 fis, clone NT2RP3002688.
BC028114 - Homo sapiens kinesin family member 1B, mRNA (cDNA clone IMAGE:4511093), partial cds.
BC073883 - Homo sapiens cDNA clone IMAGE:3457658, partial cds.
BC094856 - Homo sapiens cDNA clone IMAGE:6573324.
BC063684 - Homo sapiens cDNA clone IMAGE:4395035, partial cds.
BC040017 - Homo sapiens kinesin family member 1B, mRNA (cDNA clone IMAGE:5559263), partial cds.
JD025297 - Sequence 6321 from Patent EP1572962.
JD036020 - Sequence 17044 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NKQ4, NM_183416, NP_904325, Q4VXC3, Q4VXC3_HUMAN, RP4-736L20.1-003, uc001aqv.1
UCSC ID: uc001aqv.2
RefSeq Accession: NM_183416
Protein: O60333 (aka KIF1B_HUMAN or KF1B_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene KIF1B:
cmt (Charcot-Marie-Tooth Hereditary Neuropathy Overview)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_183416.3
exon count: 21CDS single in 3' UTR: no RNA size: 7680
ORF size: 3462CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6425.00frame shift in genome: no % Coverage: 99.79
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.