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KLC1 Gene

protein-coding   GIFtS: 59
GCID: GC14P104028

Kinesin Light Chain 1

(Previous names: kinesin 2 60/70kDa, kinesin 2)
(Previous symbol: KNS2)
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(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 Light Chain 11 2     KLC 12 3
KNS21 2 3 5     KNS2A2 5
Kinesin 2 60/70kDa1 2     Kinesin 21
KLC2 3     Medulloblastoma Antigen MU-MB-2.502

External Ids:    HGNC: 63871   Entrez Gene: 38312   Ensembl: ENSG000001262147   OMIM: 6000255   UniProtKB: Q078663   

Export aliases for KLC1 gene to outside databases

Previous GC identifers: GC14P103167 GC14P104030 GC14P104095


(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 KLC1 Gene:
Conventional kinesin is a tetrameric molecule composed of two heavy chains and two light chains, and transports
various cargos along microtubules toward their plus ends. The heavy chains provide the motor activity, while the
light chains bind to various cargos. This gene encodes a member of the kinesin light chain family. It associates
with kinesin heavy chain through an N-terminal domain, and six tetratricopeptide repeat (TPR) motifs are thought
to be involved in binding of cargos such as vesicles, mitochondria, and the Golgi complex. Thus, kinesin light
chains function as adapter molecules and not motors per se. Although previously named 'kinesin 2', this gene is
not a member of the kinesin-2 / kinesin heavy chain subfamily of kinesin motor proteins. Extensive alternative
splicing produces isoforms with different C-termini that are proposed to bind to different cargos; however, the
full-length nature and/or biological validity of most of these variants have not been determined. (provided by
RefSeq, Jul 2008)

GeneCards Summary for KLC1 Gene:
KLC1 (kinesin light chain 1) is a protein-coding gene. Diseases associated with KLC1 include childhood medulloblastoma, and medulloblastoma. GO annotations related to this gene include microtubule motor activity and tubulin binding. An important paralog of this gene is KLC2.

UniProtKB/Swiss-Prot: KLC1_HUMAN, Q07866
Function: Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport.
The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity

Gene Wiki entry for KLC1 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:
NC_000014.9  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the KLC1 gene promoter:
         AP-1   Bach2   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   AP-4   POU3F2   NF-E2 p45   c-Myb   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKLC1 promoter sequence
   Search Chromatin IP Primers for KLC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KLC1


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

Entrez Gene cytogenetic band: 14q32.3   Ensembl cytogenetic band:  14q32.33   HGNC cytogenetic band: 14q32.3

KLC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLC1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P104028:  view genomic region     (about GC identifiers)

Start:
104,028,233 bp from pter      End:
104,167,888 bp from pter
Size:
139,656 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KLC1_HUMAN, Q07866 (See protein sequence)
Recommended Name: Kinesin light chain 1  
Size: 573 amino acids; 65310 Da
Subunit: Oligomeric complex composed of two heavy chains and two light chains. Interacts with SPAG9 (By
similarity). Interacts with ATCAY; may link mitochondria to KLC1 and regulate mitochondria localization into
neuron projections (By similarity). Interacts with adenovirus hexon-interlacing protein; this interaction leads
to capsid disruption at the nuclear pore complex during virus entry into host cell
Caution: It is uncertain whether Met-1 or Met-5 is the initiator
Sequence caution: Sequence=AAA16576.1; Type=Erroneous initiation; Sequence=AAF72543.1; Type=Erroneous initiation;
Sequence=AAO62549.1; Type=Erroneous initiation; Sequence=DAA01265.1; Type=Erroneous initiation; Note=Translation
N-terminally shortened; Sequence=DAA01266.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=DAA01268.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=DAA01289.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=DAA01291.1; Type=Erroneous
initiation; Note=Translation N-terminally shortened; Sequence=DAA01292.1; Type=Erroneous initiation;
Note=Translation N-terminally shortened; Sequence=DAA01295.1; Type=Erroneous initiation; Note=Translation
N-terminally shortened; Sequence=DAA01296.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=DAA01297.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for KLC1:
3NF1 (3D)    
Secondary accessions: A6NF62 F8VTM4 Q7RTM2 Q7RTM3 Q7RTM5 Q7RTP9 Q7RTQ3 Q7RTQ5 Q7RTQ6 Q86SF5
Q86TF5 Q86V74 Q86V75 Q86V76 Q86V77 Q86V78 Q86V79 Q96H62
Alternative splicing: 10 isoforms:  Q07866-1   Q07866-2   Q07866-3   Q07866-4   Q07866-5   Q07866-6   Q07866-7   Q07866-8   
Q07866-9   Q07866-10   (Contains a phosphoserine at position 600)

Explore the universe of human proteins at neXtProt for KLC1: NX_Q07866

Explore proteomics data for KLC1 at MOPED

Post-translational modifications: 

  • Isoform I is phosphorylated on Ser-600. Isoform J is phosphorylated on Ser-6311
  • Ubiquitination2 at Lys309
  • Modification sites at PhosphoSitePlus

  • See KLC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001123579.1  NP_005543.2  NP_891553.2  

    ENSEMBL proteins: 
     ENSP00000450786   ENSP00000341154   ENSP00000369377   ENSP00000374394   ENSP00000450617  
     ENSP00000452487   ENSP00000334618   ENSP00000452481   ENSP00000334523   ENSP00000246489  
     ENSP00000450616   ENSP00000450648   ENSP00000414982   ENSP00000451242   ENSP00000412693  
     ENSP00000441347   ENSP00000452167   ENSP00000452095   ENSP00000451732   ENSP00000442554  
     ENSP00000451691  
    Reactome Protein details: Q07866

    KLC1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for KLC1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for KLC1
    GenScript Custom Purified and Recombinant Proteins Services for KLC1
    Novus Biologicals KLC1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    KLC1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of KLC1
    Browse R&D Systems for Antibodies
    OriGene Antibodies for KLC1
    OriGene Custom Antibody Services for KLC1
    Novus Biologicals KLC1 Antibodies
    Search for Antibodies for KLC1 at Abcam
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for KLC1
    LSBio Antibodies in human, mouse, rat for KLC1

    KLC1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for KLC1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for KLC1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TTC: Tetratricopeptide (TTC) repeat domain containing

    Selected InterPro protein domains (see all 8):
     IPR001440 TPR_1
     IPR011990 TPR-like_helical
     IPR015792 Kinesin_light_repeat
     IPR002151 Kinesin_light
     IPR015390 Rabaptin_Rab5-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q07866

    ProtoNet protein and cluster: Q07866

    1 Blocks protein domain: IPB002151 Kinesin light chain

    UniProtKB/Swiss-Prot: KLC1_HUMAN, Q07866
    Similarity: Belongs to the kinesin light chain family
    Similarity: Contains 6 TPR repeats


    KLC1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KLC1_HUMAN, Q07866
    Function: Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport.
    The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003774motor activity TAS8786116
    GO:0003777microtubule motor activity IEA--
    GO:0005515protein binding IPI11238452
    GO:0015631tubulin binding ----
         
    KLC1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KLC1:
     Decreased cilium length after  

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Klc1):
     behavior/neurological  cellular  growth/size/body  nervous system  other 

    KLC1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KLC1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KLC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KLC1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KLC1

    miRNA
    Products:
        
    miRTarBase miRNAs that target KLC1:
    hsa-mir-197-3p (MIRT004189), hsa-mir-34a-5p (MIRT025439)

    Block miRNA regulation of human, mouse, rat KLC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KLC1 (see all 9):
    hsa-miR-3128 hsa-miR-411 hsa-miR-4306 hsa-miR-185 hsa-miR-3126-3p hsa-miR-1286 hsa-miR-3174 hsa-miR-92b*
    SwitchGear 3'UTR luciferase reporter plasmidKLC1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for KLC1
    Predesigned siRNA for gene silencing in human, mouse, rat KLC1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for KLC1

    Clone
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    OriGene clones in human, mouse for KLC1 (see all 19)
    OriGene ORF clones in mouse, rat for KLC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): KLC1 (NM_005552)
    Sino Biological Human cDNA Clone for KLC1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KLC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLC1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for KLC1
    Browse ESI BIO Cell Lines and PureStem Progenitors for KLC1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLC1


    (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
    KLC1_HUMAN, Q07866: Cytoplasm, cytoskeleton (Probable)

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005871kinesin complex ISS--
    GO:0005874microtubule IEA--
    GO:0016020membrane ----
    GO:0030424axon ----

    KLC1 for ontologies           About GeneDecksing


    (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 KLC1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Hemostasis
    Hemostasis0.43
    2Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41
    3Cytoplasmic microtubules
    Cytoplasmic microtubules0.32
    4Salmonella infection (KEGG)
    Salmonella infection0.30
    5Selected targets of ESR1
    Selected targets of ESR1

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for KLC1
        Arf6 trafficking events


    2 Reactome Pathways for KLC1
        MHC class II antigen presentation
    Kinesins


    1 Kegg Pathway  (Kegg details for KLC1):
        Salmonella infection


    KLC1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KLC1
    Interactions:

        Search GeneGlobe Interaction Network for KLC1

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

    Selected Interacting proteins for KLC1 (Q078662, 3 ENSP000004149824) via UniProtKB, MINT, STRING, and/or I2D (see all 85)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHABP319462, 3, ENSP000003001614MINT-50991 I2D: score=4 STRING: ENSP00000300161
    LRSAM1Q6UWE02, 3MINT-64684 I2D: score=5 
    MAPK6Q166592, 3MINT-8261329 I2D: score=2 
    SFNP319472, 3MINT-3976028 I2D: score=2 
    SPAG9O602713, ENSP000002620134I2D: score=7 STRING: ENSP00000262013
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport ----
    GO:0007018microtubule-based movement TAS--
    GO:0007596blood coagulation TAS--
    GO:0008088axon cargo transport ----
    GO:0008152metabolic process TAS8786116

    KLC1 for ontologies           About GeneDecksing



    (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 KLC1



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KLC1 gene (3 alternative transcripts): 
    NM_001130107.1  NM_005552.4  NM_182923.3  

    Unigene Cluster for KLC1:

    Kinesin light chain 1
    Hs.20107  [show with all ESTs]
    Unigene Representative Sequence: AK092888
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000557172 ENST00000348520(uc001yno.3 uc001yns.3) ENST00000380038(uc010tye.1)
    ENST00000555467 ENST00000389744(uc001ynm.1 uc021seh.1) ENST00000557575
    ENST00000553286 ENST00000347839 ENST00000555836 ENST00000334553(uc010tyf.2)
    ENST00000246489 ENST00000554228(uc001ynr.1 uc010awu.1 uc001ynq.1 uc001ynp.1)
    ENST00000557450 ENST00000452929 ENST00000554280 ENST00000445352 ENST00000537046
    ENST00000553325

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate KLC1 (see all 9):
    hsa-miR-3128 hsa-miR-411 hsa-miR-4306 hsa-miR-185 hsa-miR-3126-3p hsa-miR-1286 hsa-miR-3174 hsa-miR-92b*
    SwitchGear 3'UTR luciferase reporter plasmidKLC1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for KLC1
    Predesigned siRNA for gene silencing in human, mouse, rat KLC1
    Clone
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    OriGene ORF clones in mouse, rat for KLC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): KLC1 (NM_005552)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KLC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLC1
    Primer
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    OriGene qPCR primer pairs and template standards for KLC1
    OriGene qSTAR qPCR primer pairs in human, mouse for KLC1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KLC1
      QuantiTect SYBR Green Assays in human, mouse, rat KLC1
      QuantiFast Probe-based Assays in human, mouse, rat KLC1

    Additional mRNA sequence: 

    AB451299.1 AB451431.1 AB781674.1 AF527736.1 AK024714.1 AK054874.1 AK092888.1 AK294508.1 
    AL133587.1 AY180163.1 AY180164.2 AY180166.1 AY180167.1 AY180168.1 AY180170.1 AY244715.5 
    BC008881.2 BC127808.1 L04733.1 

    Selected DOTS entries (see all 41):

    DT.100866309  DT.80100166  DT.91813991  DT.100866304  DT.80100167  DT.120790828  DT.100866300  DT.436007 
    DT.97854045  DT.432421  DT.91723587  DT.100030587  DT.100761563  DT.100866295  DT.100866311  DT.120790683 
    DT.120790759  DT.97854044  DT.120790708  DT.100866294  DT.100866303  DT.100866308  DT.120790820  DT.95107444 

    Selected AceView cDNA sequences (see all 579):

    BM794298 BE253740 BX461374 BK001169 BQ717375 BQ955402 BI335731 CB156497 
    BU680791 BU947818 AI422004 BU501659 BM467738 CD557651 CR618577 BQ947594 
    CR607419 BQ921590 AW079322 CN484319 BU553472 BQ002171 BF445729 BM907997 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KLC1 (see all 13)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15a · 15b · 15c · 15d · 15e ^ 16a ·
    SP1:                                                                                            -                       -     -     -     -     -     -     -   
    SP2:                                                                                            -                       -                                       
    SP3:                                                                                            -           -           -                                       
    SP4:                                                                                            -           -     -     -     -     -     -     -     -     -   
    SP5:                                                                                            -                 -     -     -     -     -     -     -     -   

    ExUns: 16b ^ 17 ^ 18a · 18b
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for KLC1

    (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)
    About This Section

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    KLC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTAACTTCC
    KLC1 Expression
    About this image


    KLC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
     
     Eye (Sensory Organs)
             Retina
     
     Lung (Respiratory System)
     
     Spleen (Hematopoietic System)
    KLC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KLC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.20107

    UniProtKB/Swiss-Prot: KLC1_HUMAN, Q07866
    Tissue specificity: Found in a variety of tissues. Mostly abundant in brain and spine

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    (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 KLC1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Klc11 , 5 kinesin light chain 11, 5 86.8(n)1
    97.24(a)1
      12 (61.13 cM)5
    165931  NM_001025360.21  NP_001020531.21 
     1117588495 
    chicken
    (Gallus gallus)
    Aves KLC11 kinesin light chain 1 84.41(n)
    97.19(a)
      423484  XM_421389.4  XP_421389.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    72(a)
    1 → many
    1(6050723-6134698)
    African clawed frog
    (Xenopus laevis)
    Amphibia kns2-prov2 kinesin 2 85.11(n)    BC046850.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc662992 similar to kinesin 2 80.29(n)   393928  BC055591.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Klc1 Kinesin light chain 65.92(n)
    72.15(a)
      39445  NM_079325.3  NP_524049.1 
    worm
    (Caenorhabditis elegans)
    Secernentea klc-21 klc-2 61.98(n)
    65.06(a)
      178942  NM_001028493.3  NP_001023664.1 


    ENSEMBL Gene Tree for KLC1 (if available)
    TreeFam Gene Tree for KLC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KLC1 gene
    KLC22  ENSG000002565002  KLC42  KLC32  NPHP3-ACAD112  
    6 SIMAP similar genes for KLC1 using alignment to 15 protein entries:     KLC1_HUMAN (see all proteins):
    KNS2    APOPT1    KLC4    KLC3    KLC2    NPHP3

    KLC1 for paralogs           About GeneDecksing



    (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 KLC1 (see all 1764)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs8615391,2
    C,F,Hother185157368(-) GGCCAC/TGCTGC 2 -- int134Minor allele frequency- T:0.28NS MN EU NA EA WA CSA 7595
    rs762952731,2
    C,F--85085051(+) CTCTGA/C/TCTGTT 3 -- us2k11WA 118
    rs1841385091,2
    --85085058(+) TGTTCC/TATCAT 3 -- us2k10--------
    rs1406445941,2
    --85085064(+) ATCATC/GTCGGC 3 -- us2k10--------
    rs1456991091,2
    C--85085067(+) ATCTCA/GGCAAG 3 -- us2k10--------
    rs1885431541,2
    --85085092(+) TATGTC/GTTTAT 3 -- us2k10--------
    rs1452219351,2
    --85085119(+) CTGGAA/GTGTAA 3 -- us2k10--------
    rs7294361,2
    C,F,H--85085147(-) atagaT/Aaagat 3 -- us2k1 tfbs314Minor allele frequency- A:0.07NS EA NA WA 1886
    rs1815680371,2
    --85085222(+) GAAATA/TAAAGA 3 -- us2k10--------
    rs1842103421,2
    --85085293(+) AGGCCA/GGGCAT 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for KLC1 (104028233 - 104167888 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KLC1 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2001728CNV Deletion18987734
    esv2749175CNV Deletion23290073
    esv2543794CNV Deletion19546169
    esv2663768CNV Deletion23128226
    nsv902308CNV Loss21882294
    nsv832883CNV Loss17160897
    nsv902313CNV Loss21882294
    nsv902314CNV Loss21882294
    dgv1995n71CNV Loss21882294
    nsv470673CNV Loss18288195

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600025    OMIM disorders: --

    13 diseases for KLC1:    
    About MalaCards
    childhood medulloblastoma    medulloblastoma    cataract    vaccinia
    ataxia    multiple sclerosis    hypertension    alzheimer's disease
    cervicitis    melanoma    pancreatitis    neuronitis
    malaria


    KLC1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): KLC1
    Human Genome Epidemiology (HuGE) Navigator: KLC1 (14 documents)

    Export disorders for KLC1 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 KLC1 gene, integrated from 10 sources (see all 77):
    (articles sorted by number of sources associating them with KLC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and genetic characterization of the human kinesin light-chain (KLC) gene. (PubMed id 8274221)1, 2, 3 Cabeza-Arvelaiz Y.... Lachman L.B. (DNA Cell Biol. 1993)
    2. Alternatively spliced products of the human kinesin light chain 1 (KNS2) gene. (PubMed id 12839500)1, 2, 9 McCart A.E.... Rothnagel J.A. (Traffic 2003)
    3. Evaluation of the roles of the A185C and C406T kinesin light-chain 1 variants in the development of leukoaraiosis. (PubMed id 17977659)1, 4, 9 Szolnoki Z....Somogyvari F. (Neurosci. Lett. 2007)
    4. Gene-environmental effects behind leukoaraiosis: a silent genetic variant of the kinesin protein can be activated in a subject with poorly controlled long-lasting hypertension. (PubMed id 19046961)1, 4, 9 Szolnoki Z....Somogyvari F. (Clin. Biochem. 2009)
    5. Evaluation of the genetic variants of kinesin motor protein in ischemic stroke. (PubMed id 19717019)1, 4, 9 Szolnoki Z....Somogyvari F. (J Stroke Cerebrovasc Dis 2009)
    6. A cytoskeleton motor protein genetic variant may exert a protective effect on the occurrence of multiple sclerosis: the janus face of the kinesin light-chain 1 56836CC genetic variant. (PubMed id 17999208)1, 4, 9 Szolnoki Z....Somogyvari F. (Neuromolecular Med. 2007)
    7. A genetic variant in cytoskeleton motors amplifies susceptibility to leukoaraiosis in hypertensive smokers: gene-environmental interactions behind vascular white matter demyelinization. (PubMed id 17917076)1, 4, 9 Szolnoki Z....Somogyvari F. (J. Mol. Neurosci. 2007)
    8. Kinesin light chain 1 gene haplotypes in three conformational diseases. (PubMed id 19911314)1, 4 von Otter M....Zetterberg H. (Neuromolecular Med. 2010)
    9. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (Occup Environ Med 2009)
    10. Kinesin gene variability may affect tau phosphorylation in early Alzheimer's disease. (PubMed id 17611642)1, 4 Andersson M.E....Zetterberg H. (Int. J. Mol. Med. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 3831 HGNC: 6387 AceView: KNS2 Ensembl:ENSG00000126214 euGenes: HUgn3831
    ECgene: KLC1 Kegg: 3831 H-InvDB: KLC1

    (According to HUGE)
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      --

    (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 KLC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KLC1 gene:
    Search GeneIP for patents involving KLC1

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



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