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KLC4 Gene

protein-coding   GIFtS: 57
GCID: GC06P043008

Kinesin Light Chain 4

(Previous name: kinesin-like 8)
(Previous symbol: KNSL8)
  See 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 Light Chain 41 2
KNSL81 2 3
Kinesin-Like Protein 82 3
Kinesin-Like 81
bA387M24.32
KLC 43

External Ids:    HGNC: 216241   Entrez Gene: 899532   Ensembl: ENSG000001371717   UniProtKB: Q9NSK03   

Export aliases for KLC4 gene to outside databases

Previous GC identifers: GC06P043136 GC06P042744


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KLC4 Gene:
KLC4 (kinesin light chain 4) is a protein-coding gene. Diseases associated with KLC4 include ataxia, and thyroiditis. GO annotations related to this gene include microtubule motor activity. An important paralog of this gene is KLC2.

UniProtKB/Swiss-Prot: KLC4_HUMAN, Q9NSK0
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
(By similarity)

Gene Wiki entry for KLC4 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_000006.12  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the KLC4 gene promoter:
         E2F-3a   E2F-4   RFX1   E2F-1   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKLC4 promoter sequence
   Search Chromatin IP Primers for KLC4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KLC4


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

Entrez Gene cytogenetic band: 6p21.1   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p21.1

KLC4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLC4 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P043008:  view genomic region     (about GC identifiers)

Start:
43,008,515 bp from pter      End:
43,042,837 bp from pter
Size:
34,323 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: KLC4_HUMAN, Q9NSK0 (See protein sequence)
Recommended Name: Kinesin light chain 4  
Size: 619 amino acids; 68640 Da
Subunit: Oligomeric complex composed of two heavy chains and two light chains (By similarity)
Sequence caution: Sequence=BAC86788.1; Type=Erroneous translation; Note=Wrong choice of CDS;
Secondary accessions: B3KNY4 B3KPI3 B3KSQ3 Q66K28 Q96EG6
Alternative splicing: 4 isoforms:  Q9NSK0-1   Q9NSK0-2   Q9NSK0-3   Q9NSK0-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KLC4: NX_Q9NSK0

Explore proteomics data for KLC4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys307
  • Modification sites at PhosphoSitePlus

  • See KLC4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001275963.1  NP_001275964.1  NP_612352.1  NP_958929.1  NP_958930.1  NP_958931.1  

    ENSEMBL proteins: 
     ENSP00000418759   ENSP00000340221   ENSP00000395806   ENSP00000419784   ENSP00000417652  
     ENSP00000410358   ENSP00000259708   ENSP00000419102   ENSP00000418031   ENSP00000420144  
     ENSP00000418546   ENSP00000377620   ENSP00000419634   ENSP00000417620   ENSP00000377622  
    Reactome Protein details: Q9NSK0

    KLC4 Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for KLC4
    Browse OriGene Protein Over-expression Lysates
    OriGene MassSpec for KLC4
    OriGene Custom Protein Services for KLC4
    GenScript Custom Purified and Recombinant Proteins Services for KLC4
    Novus Biologicals KLC4 Protein
    Novus Biologicals KLC4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KLC4

    KLC4 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for KLC4
    Cloud-Clone Corp. Antibodies for KLC4
    ThermoFisher Antibodies for KLC4
    LSBio Antibodies in human, mouse, rat for KLC4

    KLC4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for KLC4
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for KLC4
    Cloud-Clone Corp. CLIAs for KLC4


    (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 7):
     IPR011990 TPR-like_helical
     IPR015792 Kinesin_light_repeat
     IPR002151 Kinesin_light
     IPR015390 Rabaptin_Rab5-bd_dom
     IPR013105 TPR_2

    Graphical View of Domain Structure for InterPro Entry Q9NSK0

    ProtoNet protein and cluster: Q9NSK0

    1 Blocks protein domain: IPB002151 Kinesin light chain

    UniProtKB/Swiss-Prot: KLC4_HUMAN, Q9NSK0
    Similarity: Belongs to the kinesin light chain family
    Similarity: Contains 7 TPR repeats


    KLC4 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: KLC4_HUMAN, Q9NSK0
    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
    (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003777microtubule motor activity IEA--
    GO:0005515protein binding ----
         
    KLC4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KLC4:
     Decreased melanin production 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KLC4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KLC4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KLC4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KLC4

    miRNA
    Products:
        
    miRTarBase miRNAs that target KLC4:
    hsa-mir-335-5p (MIRT018861), hsa-mir-1180-3p (MIRT035911)

    Block miRNA regulation of human, mouse, rat KLC4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KLC4 (see all 11):
    hsa-miR-4324 hsa-miR-492 hsa-miR-3653 hsa-miR-3921 hsa-miR-3667-3p hsa-miR-544b hsa-miR-548t hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmidKLC4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for KLC4
    Predesigned siRNA for gene silencing in human, mouse, rat KLC4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for KLC4

    Clone
    Products:
         
    OriGene clones in human, mouse for KLC4 (see all 23)
    OriGene ORF clones in mouse, rat for KLC4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): KLC4 (NM_201523)
    Sino Biological Human cDNA Clone for KLC4
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KLC4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLC4

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for KLC4
    Browse ESI BIO Cell Lines and PureStem Progenitors for KLC4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLC4


    (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
    KLC4_HUMAN, Q9NSK0: Cytoplasm, cytoskeleton (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol3
    nucleus2
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005871kinesin complex IEA--
    GO:0005874microtubule IEA--

    KLC4 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 KLC4 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Hemostasis
    Hemostasis0.43
    2Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41
    3Salmonella infection (KEGG)
    Salmonella infection0.30
    4MHC class II antigen presentation
    MHC class II antigen presentation
    5Kinesins
    Kinesins

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for KLC4
        MHC class II antigen presentation
    Kinesins


    1 Kegg Pathway  (Kegg details for KLC4):
        Salmonella infection


    KLC4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KLC4
    Interactions:

        Search GeneGlobe Interaction Network for KLC4

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

    Selected Interacting proteins for KLC4 (Q9NSK02, 3 ENSP000002597084) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COILP384322, 3, ENSP000002403164MINT-2877853 I2D: score=3 STRING: ENSP00000240316
    YWHAZP631042, 3, ENSP000003095034MINT-51025 I2D: score=4 STRING: ENSP00000309503
    TCEA2Q155603, ENSP000003435154I2D: score=1 STRING: ENSP00000343515
    YWHAEP622583, ENSP000002643354I2D: score=1 STRING: ENSP00000264335
    YWHAHQ049173, ENSP000002489754I2D: score=1 STRING: ENSP00000248975
    About this table

    (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 KLC4



    (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 KLC4 gene (6 alternative transcripts): 
    NM_001289034.1  NM_001289035.1  NM_138343.3  NM_201521.2  NM_201522.2  NM_201523.2  

    Unigene Cluster for KLC4:

    Kinesin light chain 4
    Hs.655123  [show with all ESTs]
    Unigene Representative Sequence: AK055293
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000467906(uc003otr.1 uc003otv.1 uc011dvd.1) ENST00000347162
    ENST00000453940 ENST00000479632 ENST00000470728 ENST00000458460(uc003otu.3)
    ENST00000259708(uc003otw.1 uc003oty.1) ENST00000472792 ENST00000479388
    ENST00000460283 ENST00000481499 ENST00000394056(uc003otx.1) ENST00000481888
    ENST00000472172 ENST00000468114 ENST00000469987 ENST00000463063 ENST00000463168

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat KLC4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KLC4 (see all 11):
    hsa-miR-4324 hsa-miR-492 hsa-miR-3653 hsa-miR-3921 hsa-miR-3667-3p hsa-miR-544b hsa-miR-548t hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmidKLC4 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for KLC4
    Predesigned siRNA for gene silencing in human, mouse, rat KLC4
    Clone
    Products:
         
    OriGene clones in human, mouse for KLC4 (see all 23)
    OriGene ORF clones in mouse, rat for KLC4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): KLC4 (NM_201523)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KLC4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLC4
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for KLC4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KLC4
      QuantiTect SYBR Green Assays in human, mouse, rat KLC4
      QuantiFast Probe-based Assays in human, mouse, rat KLC4

    Additional mRNA sequence: 

    AK055293.1 AK056393.1 AK094102.1 AK127894.1 AK297433.1 AL162078.1 BC012357.1 BC080637.1 
    BC103727.1 BX640717.1 

    19 DOTS entries:

    DT.75103454  DT.95117659  DT.97815284  DT.101983590  DT.106584  DT.75101705  DT.121375032  DT.101983589 
    DT.40231072  DT.100739598  DT.95315793  DT.97781150  DT.121375015  DT.92432263  DT.92432267  DT.95117655 
    DT.95117665  DT.95176286  DT.40125059 

    Selected AceView cDNA sequences (see all 186):

    BM757199 AL702524 CB305435 CA394980 BQ956903 BQ771889 AW207184 AW204073 
    AW083465 BQ072431 BM683515 BQ070342 BX401863 BX107892 BQ437807 BQ072813 
    NM_201522 BQ688778 NM_201523 CA405753 BQ072463 AI929486 BM711543 CB142901 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KLC4 (see all 14)    About this scheme

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

    ExUns: 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for KLC4

    (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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    KLC4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTTCACTT
    KLC4 Expression
    About this image


    KLC4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    KLC4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KLC4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655123
        Custom PCR Arrays for KLC4
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for KLC4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KLC4
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    QuantiFast Probe-based Assays in human, mouse, rat KLC4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLC4

    (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 KLC4 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Klc41 , 5 kinesin light chain 41, 5 87.83(n)1
    94.35(a)1
      17 (22.90 cM)5
    747641  NM_029091.21  NP_083367.11 
     466306315 
    chicken
    (Gallus gallus)
    Aves KLC41 kinesin light chain 4 74.85(n)
    79.63(a)
      769965  XM_004940146.1  XP_004940203.1 
    lizard
    (Anolis carolinensis)
    Reptilia KLC46
    kinesin light chain 4
    75(a)
    1 ↔ 1
    2(144116959-144163051)
    zebrafish
    (Danio rerio)
    Actinopterygii klc1b1 kinesin light chain 1b 71(n)
    76.5(a)
      335499  NM_199954.1  NP_956248.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Klc6
    Kinesin light chain
    68(a)
    1 → many
    3L(12739716-12743156)
    worm
    (Caenorhabditis elegans)
    Secernentea klc-26
    klc-16
    Protein KLC-1, isoform b
    58(a)
    42(a)
    many ↔ many
    many ↔ many
    V(5575410-5581713) WBGene00002215
    IV(11083735-11086053) WBGene00002214


    ENSEMBL Gene Tree for KLC4 (if available)
    TreeFam Gene Tree for KLC4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KLC4 gene
    KLC22  ENSG000002565002  KLC32  NPHP3-ACAD112  KLC12  
    5 SIMAP similar genes for KLC4 using alignment to 9 protein entries:     KLC4_HUMAN (see all proteins):
    KNS2    KLC1    KLC3    KLC2    NPHP3

    KLC4 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 KLC4 (see all 353)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs617433331,2
    C,F--43029249(+) AGGCCA/GTGAGG 8 H R mis13Minor allele frequency- G:0.00NS WA NA 4698
    rs1995667971,2
    --43029250(+) GGCCAC/TGAGGA 8 H syn10--------
    rs115589791,2,,4
    C,F--43029288(+) GCTTCG/ACCGTT 8 /H /R mis1 ese35Minor allele frequency- A:0.02NA NS EA EU 5403
    rs1415463111,2
    F--43029313(+) GAGCTC/TGGGCT 8 L syn11Minor allele frequency- T:0.00NA 4520
    rs1494861571,2
    --43029593(+) TGATTC/TGGTAT 4 -- int10--------
    rs1880582721,2
    --43029673(+) AGAGGG/TTATAA 4 -- int10--------
    rs1438462671,2
    --43029769(+) ATGCCA/GTAAAC 4 -- int10--------
    rs1915958621,2
    --43029853(+) GTGAAC/TAGCAA 4 -- int10--------
    rs1841153381,2
    --43030139(+) CACCAC/TGCCCG 4 -- int10--------
    rs1872586681,2
    --43030186(+) ACCATA/GTTGGC 4 -- int10--------

    HapMap Linkage Disequilibrium report for KLC4 (43008515 - 43042837 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for KLC4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2446917CNV Deletion19546169
    esv2731992CNV Deletion23290073
    nsv462930CNV Loss19166990
    nsv437509CNV Loss16327808
    nsv462927CNV Loss19166990
    esv275497CNV Gain+Loss21479260

    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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    3 diseases for KLC4:    
    About MalaCards
    ataxia    thyroiditis    prostatitis


    KLC4 for disorders           About GeneDecksing


    Export disorders for KLC4 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 KLC4 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with KLC4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    2. 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. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    5. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    7. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PubMed id 22223895)2 Bienvenut W.V....Giglione C. (amp 2012)
    8. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    9. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (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: 89953 HGNC: 21624 AceView: KNSL8 Ensembl:ENSG00000137171 euGenes: HUgn89953
    ECgene: KLC4 Kegg: 89953 H-InvDB: KLC4

    (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 KLC4 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 KLC4 gene:
    Search GeneIP for patents involving KLC4

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



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