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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KLC1 Gene

protein-coding   GIFtS: 60
GCID: GC14P104028

kinesin light chain 1

(Previous names: kinesin 2 60/70kDa, kinesin 2 )
(Previous symbol: KNS2)
 Explore 10 diseases affiliated with
KLC1 via our new
 Human Malady Compendium 
Biological research products
for KLC1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Kinesin Light Chain 11 2     HKLC1J1
KNS21 2 3 5     HKLC1N1
KLC1 2 3     HKLC1P1
KNS2A1 2 5     HKLC1R1
Kinesin 2 60/70kDa1 2     HKLC1S1
KLC 12 3     Kinesin 21
HKLC1B1     Medulloblastoma Antigen MU-MB-2.502
HKLC1G1     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KLC1:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for KLC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Cytoplasm, cytoskeleton (Probable)
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; Sequence=DAA01266.1;
Type=Erroneous initiation; Sequence=DAA01268.1; Type=Erroneous initiation; Sequence=DAA01291.1; Type=Erroneous
initiation; Sequence=DAA01292.1; Type=Erroneous initiation; Sequence=DAA01295.1; Type=Erroneous initiation;
Sequence=DAA01296.1; Type=Erroneous initiation; Sequence=DAA01297.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for KLC1:
3NF1 (3D)    
Secondary accessions: A6NF62 Q7RTM2 Q7RTM3 Q7RTM5 Q7RTP9 Q7RTQ5 Q7RTQ6 Q86SF5 Q86TF5 Q86V74 Q86V75
Q86V76 Q86V77 Q86V78 Q86V79 Q96H62
Alternative splicing: 9 isoforms:  Q07866-1   Q07866-2   Q07866-3   Q07866-4   Q07866-5   Q07866-6   Q07866-7   Q07866-8   
Q07866-9   (Contains a phosphoserine at position 600)

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

Post-translational modifications:

  • Isoform I is phosphorylated on Ser-600. Isoform J is phosphorylated on Ser-6311
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q07866

  • KLC1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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   ENSP00000451242   ENSP00000414982   ENSP00000412693  
     ENSP00000441347   ENSP00000452167   ENSP00000452095   ENSP00000451732   ENSP00000442554  
     ENSP00000451691  
    Reactome Protein details: Q07866
    Human Recombinant Protein Products: 
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    Uscn Proteins for KLC1

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005871kinesin complex ISS--
    GO:0005874microtubule IEA--
    GO:0030424axon ----


    KLC1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for KLC1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    KLC1 for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR011990 TPR-like_helical
     IPR015792 Kinesin_light_repeat
     IPR002151 Kinesin_light
     IPR001440 TPR-1
     IPR015390 Rabaptin_Rab5-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q07866

    ProtoNet protein and cluster: Q07866

    1 Blocks protein family: IPB002151 Kinesin light chain

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

    miRNA
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    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLC1

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003774motor activity TAS8786116
    GO:0003777microtubule motor activity IEA--
    GO:0005515protein binding IPI19861499


    KLC1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for KLC1:
     Decreased cilium length after  

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

    KLC1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Immune System
    Immune System1.00
    Adaptive Immune System0.59
    2Kinesins
    Kinesins1.00
    Kinesins move along microtubules consuming ATP0.95
    3MHC class II antigen presentation
    MHC class II antigen presentation1.00
    Transport of antigen loaded MHC II molecules to surface0.59
    4Factors involved in megakaryocyte development and platelet production
    Factors involved in megakaryocyte development and platelet production1.00
    5Selected targets of ESR1
    Selected targets of ESR11.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for KLC1
        Selected targets of ESR1
    Cytoplasmic microtubules


    1 BioSystems Pathway for KLC1 
        Arf6 trafficking events

    5/8        Reactome Pathways for KLC1 (see all 8)
        Hemostasis
    Adaptive Immune System
    Transport of antigen loaded MHC II molecules to surface
    Kinesins move along microtubules consuming ATP
    Factors involved in megakaryocyte development and platelet production



    KLC1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KLC1

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

    5/65 Interacting proteins for KLC1 (Q078662, 3 ENSP000004149824) via UniProtKB, MINT, STRING, and/or I2D (see all 65)
    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007018microtubule-based movement TAS--
    GO:0007596blood coagulation TAS--
    GO:0008088axon cargo transport ----
    GO:0019048virus-host interaction IEA--
    GO:0019886antigen processing and presentation of exogenous peptide antigen via MHC class II TAS--


    KLC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KLC1
    Search CenterWatch for drugs/clinical trials and news about KLC1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/26 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 ENST00000554280 ENST00000452929 ENST00000445352 ENST00000537046
    ENST00000553325

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    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*
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    Additional cDNA sequence: 

    AB451299.1 AB451431.1 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 

    24/41 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 

    24/579 AceView cDNA sequences (see all 579):

    BQ963020 AA323263 AW068178 CD557651 CA306755 AW574693 BQ002171 BU859440 
    BF445730 BQ723461 CR619184 BM970244 AI422004 BU173048 BU680791 BM467738 
    CD671375 BK001169 BM699985 BE264005 BM828388 BI335731 BM794298 BQ955402 

    GeneLoc Exon Structure

    5/13 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KLC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTAACTTCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    KLC1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    Neural TubeNeural TubeSpinal Neural Tube CellsNeural Ectoderm
    EyeRetinaEye
    Gut TubeMidgutGut Tube
    Spinal CordPresumptive Spinal CordSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See KLC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KLC1

    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for KLC1 gene from 8/28 species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves KLC11 kinesin light chain 1 84.41(n)
    97.19(a)
      423484  XM_421389.3  XP_421389.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    KLC36
    --
    80(a)
    76(a)
    1 ↔ many
    possible ortholog
    1(6057973-6129101)
    AAWZ02038453(1352-6180)
    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 65.33(n)
    70.94(a)
      39445  NM_079325.3  NP_524049.1 
    worm
    (Caenorhabditis elegans)
    Secernentea klc-21 Protein KLC-2 62.45(n)
    65.66(a)
      178942  NM_001028493.2  NP_001023664.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G312406
    AT3G279606
    (see all 6)
    tetratricopeptide repeat-containing protein
    tetratricopeptide repeat domain-containing protein...
    (see all 6)
    9(a)
    9(a)
    (see all 6)
    possible ortholog
    possible ortholog
    (see all 6)
    2(13317415-13319560)
    3(10380380-10383092)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 4)
    tetratricopeptide repeat containing protein, putat...
    tetratricopeptide repeat containing protein, putat...
    (see all 4)
    9(a)
    9(a)
    (see all 4)
    possible ortholog
    possible ortholog
    (see all 4)
    2(35212441-35215229)
    3(2756578-2761240)


    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)
    About This Section
    Paralogs for KLC1 gene
    KLC22  KLC42  ENSG000002565002  KLC32  NPHP32  
    6 SIMAP similar genes for KLC1 using alignment to 17 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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1413 NCBI SNPs in KLC1 are shown (see all 1413    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs32121311,2
    C,F,H--84341777(-) CTACAA/GTGGCA 3 -- ds50015Minor allele frequency- G:0.00NS EA 588
    rs799815371,2
    F,--84341793(+) CTGCAC/TTTTTG 3 -- ds50011Minor allele frequency- T:0.03EA 120
    rs791208541,2
    F,--84341935(+) GAAAAC/TGGCAA 3 -- ds50011Minor allele frequency- T:0.10WA 118
    rs32121301,2
    C,H,--84341936(-) TTTGCC/TGTTTT 3 -- ds50015Minor allele frequency- T:0.00NS EA 556
    rs793201991,2
    F,--84342054(+) AAGGTG/CGGGGG 3 -- ds50011Minor allele frequency- C:0.03WA 118
    rs32121271,2
    C,--84342205(-) tgctcT/Ggagta 3 -- ds50011Minor allele frequency- G:0.01NS 174
    rs456255361,2
    C--84342310(-) CCCACA/TCAGTG 3 -- ut310--------
    rs751044081,2
    F,--84342313(+) TGAGTG/CGGGGG 3 -- ut311Minor allele frequency- C:0.10WA 118
    rs32121261,2
    H--84342333(-) CCACCG/ATACAA 3 -- ut315Minor allele frequency- A:0.00NS EA 588
    rs788634231,2
    F,--84342377(+) GGCCAC/TGCCAC 3 -- ut311Minor allele frequency- T:0.10WA 118

    HapMap Linkage Disequilibrium report for KLC1 (104028233 - 104167888 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for KLC1
         3 CNVs: 43894 102027 3949

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    KLC1 for disorders           About GeneDecksing

    OMIM gene information: 600025    OMIM disorders: --

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

    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)
    About This Section

    PubMed articles for KLC1 gene, integrated from 9 sources (see all 71):
    (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. (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. (2003)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Kinesin-dependent axonal transport is mediated by the sunday driver (SYD) protein. (PubMed id 11106729)1, 3 Bowman A.B....Goldstein L.S. (2000)
    6. Association study of three polymorphisms of kinesin light-chain 1 gene with Alzheimer's disease. (PubMed id 15364413)1, 9 Dhaenens C.M....Sablonniere B. (2004)
    7. Evaluation of the roles of the A185C and C406T kinesin light-chain 1 variants in the development of leukoaraiosis. (PubMed id 17977659)1, 9 Szolnoki Z....Somogyvari F. (2007)
    8. Amyloid beta protein precursor (AbetaPP), but not AbetaPP-like protein 2, is bridged to the kinesin light chain by the scaffold protein JNK-interacting protein 1. (PubMed id 12893827)1, 9 Matsuda S....D'Adamio L. (2003)
    9. Evaluation of the genetic variants of kinesin motor p rotein in ischemic stroke. (PubMed id 19717019)1, 9 Szolnoki Z....Somogyvari F. (2009)
    10. 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, 9 Szolnoki Z....Somogyvari F. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    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)
    About This Section
    Entrez Gene: 3831 HGNC: 6387 AceView: KNS2 Ensembl:ENSG00000126214 euGenes: HUgn3831
    ECgene: KLC1 H-InvDB: KLC1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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