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KIF1B Gene

protein-coding   GIFtS: 63
GCID: GC01P010270

Kinesin Family Member 1B


(Previous symbols: CMT2A, CMT2)
  See KIF1B-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Kinesin Family Member 1B1 2     KLP2
CMT2A1 2 5     Kinesin Superfamily Protein KIF1B2
CMT21 2     Kinesin-Like Protein KIF1B2
CMT2A12 5     KIAA05913
NBLST12 5     KIAA14483
HMSNII2     Klp3

External Ids:    HGNC: 166361   Entrez Gene: 230952   Ensembl: ENSG000000545237   OMIM: 6059955   UniProtKB: O603333   

Export aliases for KIF1B gene to outside databases

Previous GC identifers: GC01P010232 GC01P010114 GC01P009880 GC01P009980 GC01P010205 GC01P010193 GC01P009426


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 kif1b-related pheochromocytoma, and charcot-marie-tooth disease, type 2a1. GO annotations related to this gene include phospholipid binding and ATPase activity. An important paralog of this gene is KIF18A.

UniProtKB/Swiss-Prot: KIF1B_HUMAN, O60333
Function: 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIF1B gene promoter:
         Bach1   AML1a   RREB-1   Nkx5-1   AP-2gamma   Tal-1beta   E47   AP-2beta   AP-2alpha   AP-2alphaA   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KIF1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIF1B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.2   Ensembl cytogenetic band:  1p36.22   HGNC cytogenetic band: 1p36.22

KIF1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIF1B gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P010270:  view genomic region     (about GC identifiers)

Start:
10,270,764 bp from pter      End:
10,441,661 bp from pter
Size:
170,898 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: KIF1B_HUMAN, O60333 (See protein sequence)
Recommended Name: Kinesin-like protein KIF1B  
Size: 1816 amino acids; 204476 Da
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
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;
1 PDB 3D structure from and Proteopedia for KIF1B:
2EH0 (3D)    
Secondary accessions: A6NFS8 A6NKQ4 Q4VXC3 Q4VXC4 Q4VXC5 Q4VXC6 Q96Q94 Q9BV80 Q9P280
Alternative splicing: 4 isoforms:  O60333-1   O60333-2   O60333-3   O60333-4   (Contains a phosphoserine at position 1141. Contains a phosphoserine at position 663. Contains a phosphoserine at position 665)

Explore the universe of human proteins at neXtProt for KIF1B: NX_O60333

Explore proteomics data for KIF1B at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys930, Lys939
  • Modification sites at PhosphoSitePlus

  • See KIF1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_055889.2  NP_904325.2  

    ENSEMBL proteins: 
     ENSP00000366297   ENSP00000263934   ENSP00000366290   ENSP00000366287   ENSP00000366284  

    KIF1B Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for KIF1B

     
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    antibodies-online proteins for KIF1B (2 products) 

     
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    antibodies-online antibodies for KIF1B (20 products) 

    KIF1B Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    KIF: Kinesins
    PLEKH: Pleckstrin homology (PH) domain containing

    Selected InterPro protein domains (see all 10):
     IPR008984 SMAD_FHA_domain
     IPR022140 KIF1B
     IPR022164 Kinesin-like
     IPR027417 P-loop_NTPase
     IPR000253 FHA_dom

    Graphical View of Domain Structure for InterPro Entry O60333

    ProtoNet protein and cluster: O60333

    3 Blocks protein domains:
    IPB000253 Forkhead-associated (FHA)
    IPB001752 Kinesin
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: KIF1B_HUMAN, O60333
    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


    Find genes that share domains with KIF1B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KIF1B_HUMAN, O60333
    Function: Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility. Isoform 2
    is required for induction of neuronal apoptosis

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003777microtubule motor activity ISS--
    GO:0005515protein binding IPI12097473
    GO:0005524ATP binding IEA--
    GO:0008017microtubule binding IEA--
    GO:0016887ATPase activity ISS--
         
    Find genes that share ontologies with KIF1B           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for KIF1B:
     Upregulation of Wnt/beta-caten 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Kif1b):
     behavior/neurological  integument  mortality/aging  muscle  nervous system 
     respiratory system  skeleton 

    Find genes that share phenotypes with KIF1B           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Kif1btm1Noh for KIF1B

       genOway: Develop your customized and physiologically relevant rodent model for KIF1B

    miRNA
    Products:
        
    miRTarBase miRNAs that target KIF1B:
    hsa-mir-27b-3p (MIRT046178), hsa-mir-16-5p (MIRT031988), hsa-let-7c-5p (MIRT051831), hsa-mir-26b-5p (MIRT030116), hsa-mir-124-3p (MIRT023106), hsa-mir-9-5p (MIRT021443), hsa-mir-193b-3p (MIRT016600)

    Block miRNA regulation of human, mouse, rat KIF1B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KIF1B (see all 107):
    hsa-miR-140-5p hsa-miR-3607-3p hsa-miR-188-5p hsa-miR-300 hsa-miR-15a hsa-miR-219-5p hsa-miR-3653 hsa-miR-632
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for KIF1B
    Predesigned siRNA for gene silencing in human, mouse, rat KIF1B

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    GenScript: all cDNA clones in your preferred vector (see all 2): KIF1B (NM_015074)
    Sino Biological Human cDNA Clone for KIF1B
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIF1B


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KIF1B_HUMAN, O60333: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytoskeleton4
    cytosol3
    nucleus2

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005871kinesin complex IEA--
    GO:0005874microtubule IEA--
    GO:0005875microtubule associated complex ISS--
    GO:0030659cytoplasmic vesicle membrane ISS--

    Find genes that share ontologies with KIF1B           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KIF1B About    
    See pathways by source

    SuperPathContained pathways About
    1Reelin Pathway (Cajal-Retzius cells)
    Reelin Pathway (Cajal-Retzius cells)
    2PI3K / Akt Signaling
    PI3K / Akt Signaling
    3Cytoskeletal Signaling
    Cytoskeletal Signaling


    Find genes that share SuperPaths with KIF1B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KIF1B
        Reelin Pathway (Cajal-Retzius cells)

    2 Cell Signaling Technology (CST) Pathways for KIF1B
        Cytoskeletal Signaling
    PI3K / Akt Signaling



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KIF1B
    Interactions:

        GeneGlobe Interaction Network for KIF1B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KIF1B (O603331, 2, 3 ENSP000002639344) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLASP1Q7Z4601, 2, 3, ENSP000002637104EBI-465633,EBI-913476 MINT-8080001 MINT-8080014 MINT-8080046 I2D: score=1 STRING: ENSP00000263710
    DLG1Q129591, 3, ENSP000003457314EBI-465669,EBI-357481 I2D: score=4 STRING: ENSP00000345731
    YWHAGP619812, 3, ENSP000003063304MINT-50879 I2D: score=4 STRING: ENSP00000306330
    DLG4P783521, 3EBI-465669,EBI-80389 I2D: score=4 
    CALM1P621583I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process ----
    GO:0006915apoptotic process IEA--
    GO:0007018microtubule-based movement ISS--
    GO:0007270neuron-neuron synaptic transmission ISS--
    GO:0007274neuromuscular synaptic transmission ISS--

    Find genes that share ontologies with KIF1B           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KIF1B



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KIF1B gene (2 alternative transcripts): 
    NM_015074.3  NM_183416.3  

    Unigene Cluster for KIF1B:

    Kinesin family member 1B
    Hs.97858  [show with all ESTs]
    Unigene Representative Sequence: NM_015074
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377093(uc001aqv.4) ENST00000263934(uc009vmt.3) ENST00000377086(uc001aqw.4 uc001aqx.4)
    ENST00000377083 ENST00000377081(uc001aqy.3 uc001aqz.3 uc001ara.3 uc001arb.3)
    ENST00000495136 ENST00000497835 ENST00000465635 ENST00000483340 ENST00000470616

    miRNA
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    Block miRNA regulation of human, mouse, rat KIF1B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KIF1B (see all 107):
    hsa-miR-140-5p hsa-miR-3607-3p hsa-miR-188-5p hsa-miR-300 hsa-miR-15a hsa-miR-219-5p hsa-miR-3653 hsa-miR-632
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      QuantiTect SYBR Green Assays in human, mouse, rat KIF1B
      QuantiFast Probe-based Assays in human, mouse, rat KIF1B

    Additional mRNA sequence: 

    AB011163.2 AB017133.1 AB040881.2 AB088210.1 AB088211.1 AB088212.1 AB088213.1 AF257176.1 
    AK022977.1 AK023184.1 AK025761.1 AK025771.1 AK054955.1 AK074279.1 AK297439.1 AK308121.1 
    AY043362.1 AY139835.1 BC001415.2 BC028114.1 BC040017.1 BC047632.1 BC063684.1 BC073883.1 
    BC094856.1 BC115395.2 BT007174.1 

    Selected DOTS entries (see all 29):

    DT.95137468  DT.433899  DT.100779632  DT.101981257  DT.313588  DT.121327456  DT.100672547  DT.100650654 
    DT.92062319  DT.455944  DT.100779629  DT.95173197  DT.121327304  DT.100779628  DT.95230521  DT.100746283 
    DT.86839678  DT.97836962  DT.100674860  DT.121327354  DT.121327384  DT.121327493  DT.310020  DT.91938154 

    Selected AceView cDNA sequences (see all 1030):

    AB011163 CR609478 CF127856 CA446296 CD519460 T09417 BQ641451 F37564 
    CB106586 BE261282 BU193139 BU157049 CB050697 BM721801 BF056971 AI652763 
    BI254184 AI381486 AI056795 CD742778 BM470467 CB164364 BM750099 BU540591 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KIF1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTATTTTG
    KIF1B Expression
    About this image


    KIF1B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Limb (Muscoskeletal System)    fully expand to see all 3 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Mesenchymal Condensate Cells Zeugopod
             Zeugopod Long Bone
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Monocytes Peripheral Blood
    KIF1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIF1B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.97858

    UniProtKB/Swiss-Prot: KIF1B_HUMAN, O60333
    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

        Custom PCR Arrays for KIF1B
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    QuantiFast Probe-based Assays in human, mouse, rat KIF1B
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIF1B

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for KIF1B gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kif1b1 , 5 kinesin family member 1B1, 5 90.55(n)1
    97.06(a)1
      4 (79.05 cM)5
    165611  NM_207682.21  NP_997565.21 
     1491763195 
    chicken
    (Gallus gallus)
    Aves KIF1B1 kinesin family member 1B 82.13(n)
    94.97(a)
      419449  XM_004947454.1  XP_004947511.1 
    lizard
    (Anolis carolinensis)
    Reptilia KIF1B6
    kinesin family member 1B
    88(a)
    1 ↔ 1
    GL343565.1(382082-441121)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kif1b1 kinesin family member 1B 77.88(n)
    90.2(a)
      100379810  XM_002939557.2  XP_002939603.2 
    zebrafish
    (Danio rerio)
    Actinopterygii kif1b1 kinesin family member 1B 76.69(n)
    88.43(a)
      369190  NM_194382.2  NP_919363.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta unc-1043 cytoskeleton organization and
    biogenesis kinesin more
    50(a)
    (best of 2)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea klp-63   -- 40(a)   III(5102738-5108133)   --


    ENSEMBL Gene Tree for KIF1B (if available)
    TreeFam Gene Tree for KIF1B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIF1B gene
    KIF18A2  KIF16B2  KIF1C2  STARD92  KIF192  KIF142  KIF222  KIF13B2  
    KIF1A2  KIF13A2  KIF18B2  
    7 SIMAP similar genes for KIF1B using alignment to 1 protein entry:     KIF1B_HUMAN:
    KIF1Bbeta    KIF1C    KIF1A    KIF3B    KIF3A    KIF5C
    KIF21A

    Find genes that share paralogs with KIF1B           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for KIF1B
    PGOHUM00000244536


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KIF1B (see all 3557)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0115154
    Charcot-Marie-Tooth disease 2A1 (CMT2A1)4--see VAR_0115152 Q L mis40--------
    rs1219081621,2,,4
    C,Fother110402967(+) AACCAC/TTGTGA 2 T I mis12Minor allele frequency- T:0.00NA EU 5875
    rs1219081631,2,,4
    Cother110424177(+) TGGAGC/TCTACA 2 P S mis10--------
    rs120935531,2
    C,F--10272989(+) atataC/TaCACA 2 -- int11Minor allele frequency- T:0.00WA 2
    rs2013898291,2
    --10275223(+) ATATA-/TAT   
      ATATAT
    TTTTT
    2 -- int10--------
    rs111215301,2
    A--10275232(+) tatatA/Tttttt 2 -- int1 trp30--------
    rs1999434491,2
    C--10277402(+) TTTTT-/TT/TTC
            
    TTTTT
    4 -- int1 cds10--------
    rs351506191,2
    C--10277858(+) GTACTC/-CCCCC 2 -- int11Minor allele frequency- -:0.50CSA 2
    rs1114693791,2
    F--10279706(+) AGCTAC/TTCGGG 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs617758771,2
    F--10280089(+) AACTCC/TGTCTC 2 -- int11Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for KIF1B (10270764 - 10441661 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KIF1B (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv436146CNV Deletion17901297
    esv2743641CNV Deletion23290073
    esv2421759CNV Deletion20811451
    esv2743652CNV Deletion23290073
    esv4531CNV Deletion18987735
    esv2657507CNV Deletion23128226
    esv2550823CNV Deletion19546169
    nsv2409CNV Insertion18451855
    nsv515546CNV Loss19592680
    nsv513981CNV Loss21397061

    Human Gene Mutation Database (HGMD): KIF1B
    Locus Specific Mutation Databases (LSDB): KIF1B

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KIF1B
    DNA2.0 Custom Variant and Variant Library Synthesis for KIF1B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605995   
    OMIM disorders: 118210  171300  256700  
    UniProtKB/Swiss-Prot: KIF1B_HUMAN, O60333
  • 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.
    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. Note=Disease susceptibility is
    associated with variations affecting the gene represented in this entry

  • 17 diseases for KIF1B:    
    About MalaCards
    kif1b-related pheochromocytoma    charcot-marie-tooth disease, type 2a1    kif1b-related neuroblastoma, susceptibility    neuroblastoma 1
    neuroblastoma, susceptibility    alk-related neuroblastoma susceptibility    charcot-marie-tooth disease type 2    charcot-marie-tooth disease type 2a
    autosomal dominant charcot-marie-tooth disease type 2    charcot-marie-tooth neuropathy type 2a    corneal staphyloma    pheochromocytoma
    tooth disease    charcot-marie-tooth disease    hereditary paraganglioma-pheochromocytoma syndromes    charcot-marie-tooth neuropathy type 2
    neuroblastoma

    2 diseases from the University of Copenhagen DISEASES database for KIF1B:
    Charcot-Marie-Tooth disease     Axonal neuropathy

    Find genes that share disorders with KIF1B           About GenesLikeMe

    3 Novoseek inferred disease relationships for KIF1B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    charcot-marie-tooth disease 81.7 3 11389829 (1), 11835375 (1), 8406488 (1)
    tumors 0 2 10762626 (1), 17475218 (1)
    cancer 0 1 17475218 (1)

    GeneTests: KIF1B
    GeneReviews: KIF1B
    Genetic Association Database (GAD): KIF1B
    Human Genome Epidemiology (HuGE) Navigator: KIF1B (12 documents)

    Export disorders for KIF1B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KIF1B gene, integrated from 10 sources (see all 96):
    (articles sorted by number of sources associating them with KIF1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1B-beta. (PubMed id 11389829)1, 2, 3, 9 Zhao C.... Hirokawa N. (Cell 2001)
    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. (PubMed id 10762626)1, 2, 3, 9 Nagai M.... Nakagawara A. (Int. J. Oncol. 2000)
    3. Lack of replication of KIF1B gene in an Italian primary progressive multiple sclerosis cohort. (PubMed id 20067515)1, 4, 9 Martinelli-Boneschi F....Comi G. (Eur. J. Neurol. 2010)
    4. Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis. (PubMed id 18997785)1, 4, 9 Aulchenko Y.S....Hintzen R.Q. (Nat. Genet. 2008)
    5. Genomic structure and mutational analysis of the human KIF1Balpha gene located at 1p36.2 in neuroblastoma. (PubMed id 12888911)1, 2, 9 Chen Y.Y....Hayashi Y. (Int. J. Oncol. 2003)
    6. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PubMed id 11835375)1, 4, 9 Boerkoel C.F.... Lupski J.R. (Ann. Neurol. 2002)
    7. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    8. Genome-wide association study identifies 1p36.22 as a new susceptibility locus for hepatocellular carcinoma in chronic hepatitis B virus carriers. (PubMed id 20676096)1, 4 Zhang H....Zhou G. (Nat. Genet. 2010)
    9. Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis. (PubMed id 20502484)1, 4  ....Haines J. (Nat. Genet. 2010)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23095 HGNC: 16636 AceView: PGDandKIF1B Ensembl:ENSG00000054523 euGenes: HUgn23095
    ECgene: KIF1B H-InvDB: KIF1B

    (According to HUGE)
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    HUGE: KIAA1448 KIAA0591

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KIF1B Pharmacogenomics, SNPs, Pathways
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=KIF1B[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KIF1B gene:
    Search GeneIP for patents involving KIF1B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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