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KLHL13 Gene

protein-coding   GIFtS: 58
GCID: GC0XM117031

Kelch-Like Family Member 13

(Previous names: BTB and kelch domain containing 2, KIAA1309, kelch-like...)
(Previous symbols: BKLHD2, KIAA1309)
  Search for KLHL13
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
Kelch-Like Family Member 131 2     BTB And Kelch Domain Containing 22
BKLHD21 2 3     Kelch-Like 132
KIAA13091 3 5     Kelch-Like Protein 132
BTB And Kelch Domain Containing 2, KIAA13091     BTB And Kelch Domain-Containing Protein 23
Kelch-Like 13 (Drosophila)1     

External Ids:    HGNC: 229311   Entrez Gene: 902932   Ensembl: ENSG000000030967   OMIM: 3006555   UniProtKB: Q9P2N73   

Export aliases for KLHL13 gene to outside databases

Previous GC identifers: GC0XM115786 GC0XM116813 GC0XM116915 GC0XM106526


(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 KLHL13 Gene:
This gene encodes a BTB and kelch domain containing protein and belongs to the kelch repeat domain containing
superfamily of proteins. The encoded protein functions as an adaptor protein that complexes with Cullin 3 and
other proteins to form the Cullin 3-based E3 ubiquitin-protein ligase complex. This complex is necessary for
proper chromosome segregation and completion of cytokinesis. Alternate splicing results in multiple transcript
variants. (provided by RefSeq, Mar 2010)

GeneCards Summary for KLHL13 Gene:
KLHL13 (kelch-like family member 13) is a protein-coding gene. GO annotations related to this gene include ubiquitin-protein ligase activity. An important paralog of this gene is KLHL42.

UniProtKB/Swiss-Prot: KLH13_HUMAN, Q9P2N7
Function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for
mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the
ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates
faithful mitotic progression and completion of cytokinesis




(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_000023.10  NC_018934.2  NT_011786.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the KLHL13 gene promoter:
         ISGF-3   Sox5   AML1a   Pax-6   Nkx2-2   HSF1 (long)   E4BP4   FOXC1   Cart-1   HSF1short   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKLHL13 promoter sequence
   Search Chromatin IP Primers for KLHL13

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KLHL13


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

Entrez Gene cytogenetic band: Xq23-q24   Ensembl cytogenetic band:  Xq24   HGNC cytogenetic band: Xq23-q24

KLHL13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHL13 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM117031:  view genomic region     (about GC identifiers)

Start:
117,031,776 bp from pter      End:
117,251,303 bp from pter
Size:
219,528 bases      Orientation:
minus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KLH13_HUMAN, Q9P2N7 (See protein sequence)
Recommended Name: Kelch-like protein 13  
Size: 655 amino acids; 73868 Da
Subunit: Component of the BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex, at least composed of CUL3, KLHL9, KLHL13
and RBX1. Interacts with AURKB
Sequence caution: Sequence=BAA92547.1; Type=Erroneous initiation; Sequence=CAC41335.1; Type=Erroneous initiation;
Secondary accessions: B3KV78 B3KWM7 B7Z3S9 B7Z5P2 B7Z802 D3DWH6 Q6P2E3 Q96QI7 Q9UDN9
Alternative splicing: 5 isoforms:  Q9P2N7-1   Q9P2N7-2   Q9P2N7-3   Q9P2N7-4   Q9P2N7-5   

Explore the universe of human proteins at neXtProt for KLHL13: NX_Q9P2N7

Explore proteomics data for KLHL13 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys213, Lys221, Lys277, Lys280, Lys370, Lys420
  • Modification sites at PhosphoSitePlus

  • See KLHL13 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001161771.1  NP_001161772.1  NP_001161773.1  NP_001161774.1  NP_001161775.1  NP_277030.2  

    ENSEMBL proteins: 
     ENSP00000360949   ENSP00000360943   ENSP00000360945   ENSP00000412640   ENSP00000419803  
     ENSP00000393807   ENSP00000444450   ENSP00000441029   ENSP00000443191   ENSP00000262820  
     ENSP00000440707  
    Reactome Protein details: Q9P2N7

    KLHL13 Human Recombinant Protein Products:

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    Novus Biologicals KLHL13 Protein
    Novus Biologicals KLHL13 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KLHL13

     
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    KLHL13 Assay Products:

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    Search eBioscience for ELISAs for KLHL13 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    BTBD: BTB/POZ domain containing
    KLHL: Kelch-like

    Selected InterPro protein domains (see all 7):
     IPR006652 Kelch_1
     IPR011333 BTB/POZ_fold
     IPR017096 Kelch-like_gigaxonin-typ
     IPR015916 Gal_Oxidase_b-propeller
     IPR013069 BTB_POZ

    Graphical View of Domain Structure for InterPro Entry Q9P2N7

    ProtoNet protein and cluster: Q9P2N7

    2 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB011705 BTB/Kelch-associated


    UniProtKB/Swiss-Prot: KLH13_HUMAN, Q9P2N7
    Similarity: Contains 1 BACK (BTB/Kelch associated) domain
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 6 Kelch repeats


    Find genes that share domains with KLHL13           About GenesLikeMe


    (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, 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: KLH13_HUMAN, Q9P2N7
    Function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for
    mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the
    ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates
    faithful mitotic progression and completion of cytokinesis

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842contributes to ubiquitin-protein ligase activity IDA17543862
    GO:0005515protein binding ----
         
    Find genes that share ontologies with KLHL13           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for KLHL13:
     Cell cycle / mitosis defect  Decreased nuclei size in G2M  Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KLHL13
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KLHL13

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KLHL13
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KLHL13

    miRNA
    Products:
        
    miRTarBase miRNAs that target KLHL13:
    hsa-mir-218-5p (MIRT024225)

    Block miRNA regulation of human, mouse, rat KLHL13 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KLHL13 (see all 9):
    hsa-miR-548p hsa-miR-938 hsa-miR-218 hsa-miR-646 hsa-miR-421 hsa-miR-4275 hsa-miR-129-3p hsa-miR-2113
    SwitchGear 3'UTR luciferase reporter plasmidKLHL13 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for KLHL13
    Predesigned siRNA for gene silencing in human, mouse, rat KLHL13

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 6): KLHL13 (NM_033495)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KLHL13
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLHL13

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL13


    (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 COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion3
    cytosol2
    cytoskeleton1
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031463Cul3-RING ubiquitin ligase complex IDA17543862

    Find genes that share ontologies with KLHL13           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 KLHL13 About    
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84
    Ubiquitin mediated proteolysis0.35
    2Aurora B signaling
    Aurora B signaling


    Find genes that share SuperPaths with KLHL13           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for KLHL13
        Aurora B signaling

    1 Reactome Pathway for KLHL13
        Antigen processing: Ubiquitination & Proteasome degradation


    1 Kegg Pathway  (Kegg details for KLHL13):
        Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: KLH13_HUMAN, Q9P2N7
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Arrays including KLHL13: 

              Prostate Cancer in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for KLHL13

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

    Selected Interacting proteins for KLHL13 (Q9P2N73 ENSP000002628204) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPS5Q929053, ENSP000003505124I2D: score=2 STRING: ENSP00000350512
    KLHL22Q53GT13, ENSP000003316824I2D: score=2 STRING: ENSP00000331682
    NUDCD3Q8IVD93, ENSP000003476264I2D: score=2 STRING: ENSP00000347626
    UBXN7O948883, ENSP000002963284I2D: score=2 STRING: ENSP00000296328
    ZMYM4Q5VZL53, ENSP000003229154I2D: score=2 STRING: ENSP00000322915
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000910cytokinesis IMP17543862
    GO:0007067mitosis IEA--
    GO:0016567protein ubiquitination IDA17543862

    Find genes that share ontologies with KLHL13           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 KLHL13 (KLH13)



    (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 KLHL13 gene (6 alternative transcripts): 
    NM_001168299.1  NM_001168300.1  NM_001168301.1  NM_001168302.1  NM_001168303.1  NM_033495.3  

    Unigene Cluster for KLHL13:

    Kelch-like family member 13
    Hs.348262  [show with all ESTs]
    Unigene Representative Sequence: NM_033495
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371882 ENST00000371876(uc004eqk.3) ENST00000371878 ENST00000447671
    ENST00000469946 ENST00000453826 ENST00000541812(uc022cde.1) ENST00000540167(uc011mtq.2)
    ENST00000539496(uc011mtp.2) ENST00000262820(uc004eql.3 uc011mtn.2 uc011mto.2)
    ENST00000545703(uc004eqm.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat KLHL13 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KLHL13 (see all 9):
    hsa-miR-548p hsa-miR-938 hsa-miR-218 hsa-miR-646 hsa-miR-421 hsa-miR-4275 hsa-miR-129-3p hsa-miR-2113
    SwitchGear 3'UTR luciferase reporter plasmidKLHL13 3' UTR sequence
    Inhib. RNA
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    Clone
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    OriGene ORF clones in mouse, rat for KLHL13
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): KLHL13 (NM_033495)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLHL13
    Primer
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    OriGene qPCR primer pairs and template standards for KLHL13
    OriGene qSTAR qPCR primer pairs in human, mouse for KLHL13
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KLHL13
      QuantiTect SYBR Green Assays in human, mouse, rat KLHL13
      QuantiFast Probe-based Assays in human, mouse, rat KLHL13

    Additional mRNA sequence: 

    AK001124.1 AK122724.1 AK125356.1 AK296324.1 AK297523.1 AK299257.1 AK302713.1 AK316509.1 
    AL591986.1 BC008729.2 BC064576.1 

    8 DOTS entries:

    DT.100666713  DT.100743166  DT.121307029  DT.110413  DT.121306993  DT.121307071  DT.92420770  DT.95184327 

    Selected AceView cDNA sequences (see all 66):

    BM669767 AI800541 BU607845 BI549139 AI628964 AB037730 AL591986 BU618521 
    CR614631 NM_033495 BM680509 BM699109 BC064576 AW519303 AA086182 AI753736 
    BC008729 AI755242 N22179 AK122724 AA620455 BE314811 BP360232 BP378945 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for KLHL13    About this scheme

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


    ECgene alternative splicing isoforms for KLHL13

    (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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    KLHL13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTATCTTT
    KLHL13 Expression
    About this image

    KLHL13 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KLHL13 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.348262
        Pathway & Disease-focused RT2 Profiler PCR Arrays including KLHL13: 
              Prostate Cancer in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for KLHL13
    OriGene qSTAR qPCR primer pairs in human, mouse for KLHL13
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KLHL13
    QuantiTect SYBR Green Assays in human, mouse, rat KLHL13
    QuantiFast Probe-based Assays in human, mouse, rat KLHL13
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL13

    (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 chordates.

    Orthologs for KLHL13 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Klhl131 , 5 kelch-like 13 (Drosophila)5
    kelch-like 131
    91.04(n)1
    95.33(a)1
      X (17.22 cM)5
    674551  NM_026167.31  NP_080443.11 
     232192715 
    chicken
    (Gallus gallus)
    Aves KLHL136
    Gallus gallus kelch-like 9 (Drosophila) (KLHL13), ...
    89(a)
    1 → many
    4(3175772-3206798)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    89(a)
    1 → many
    GL343403.1(203973-276002)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.35602 Transcribed sequence with strong similarity to protein more 84.97(n)    AL847812.2 
    zebrafish
    (Danio rerio)
    Actinopterygii klhl136
    kelch-like family member 13
    91(a)
    1 → many
    5(38943853-39040612) ENSDARG00000086463


    ENSEMBL Gene Tree for KLHL13 (if available)
    TreeFam Gene Tree for KLHL13 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KLHL13 gene
    KLHL422  KLHL222  KLHL262  KLHL342  KLHL312  KBTBD132  KBTBD112  KLHL322  
    KLHL92  KLHL142  KLHL152  KLHDC7B2  KLHL362  KLHL332  KLHDC7A2  
    Selected SIMAP similar genes for KLHL13 using alignment to 3 protein entries:     KLH13_HUMAN (see all proteins) (see all similar genes):
    DKFZp686L0695    KLHL9    KLHL26    FLJ00127    KBTBD3    KLHL36
    KLHL31    BACH2    KLHL32    KLHL3    KIAA1900    KLHL14
    KLHL15    DKFZp761P1717    KLHL2    KLHL23    KLHL5    KLHL28

    Find genes that share paralogs with KLHL13           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for KLHL13
    PGOHUM00000260454


    (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 KLHL13 (see all 3310)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs626092131,2
    C,F--117026642(+) GATCAT/CAATAC 6 -- ds50011Minor allele frequency- C:0.00NA 2
    rs1491209191,2
    --117026725(+) TAAGGC/TAATTT 6 -- ds50010--------
    rs1923650771,2
    --117026779(+) TCAGGA/GAGACT 6 -- ds50010--------
    rs66454121,2
    C,F,A,H--117026791(+) AACTCA/GGAATT 6 -- ds500113Minor allele frequency- G:0.85NS EA NA 1402
    rs1478360731,2
    C--117026853(+) AAAGCC/TAGTTA 6 -- ds50010--------
    rs1837034781,2
    --117026916(+) ATAAGG/TTTAGA 6 -- ds50010--------
    rs626092141,2
    C,F--117027047(+) GTCAAG/ATCAGA 6 -- ds50011Minor allele frequency- A:0.00NA 2
    rs2013423131,2
    --117027452(+) TTTTT-/AAAAAA 6 -- ut310--------
    rs66454131,2
    C--117027480(+) GTGCAC/TGTGTG 6 -- ut31 ese30--------
    rs1391644551,2
    C--117027593(+) TCTCCG/TGTGTG 6 -- ut310--------

    HapMap Linkage Disequilibrium report for KLHL13 (117031776 - 117251303 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for KLHL13:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv270236CNV Insertion20981092
    esv271191CNV Insertion20981092
    nsv510855CNV Loss20534489
    nsv526997CNV Gain19592680

    Locus Specific Mutation Databases (LSDB): KLHL13

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KLHL13
    DNA2.0 Custom Variant and Variant Library Synthesis for KLHL13

    (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.)
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    OMIM gene information: 300655    OMIM disorders: --


    Find genes that share disorders with KLHL13           About GenesLikeMe

    Genetic Association Database (GAD): KLHL13

    Export disorders for KLHL13 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 KLHL13 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with KLHL13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
    2. The Cul3-KLHL21 E3 ubiquitin ligase targets aurora B to midzone microtubules in anaphase and is required for cytokinesis. (PubMed id 19995937)1, 2 Maerki S.... Peter M. (J. Cell Biol. 2009)
    3. Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. (PubMed id 19084217)1, 4 Benyamin B....Visscher P.M. (Am. J. Hum. Genet. 2009)
    4. A Cul3-based E3 ligase removes Aurora B from mitotic chromosomes, regulating mitotic progression and completion of cytokinesis in human cells. (PubMed id 17543862)1, 2 Sumara I....Peter M. (Dev. Cell 2007)
    5. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    6. 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)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PubMed id 23314748)1 Nathan J.A....Goldberg A.L. (EMBO J. 2013)
    9. Update on the Kelch-like (KLHL) gene family. (PubMed id 23676014)1 Dhanoa B.S....Friedman J.S. (Hum. Genomics 2013)
    10. Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. (PubMed id 22939624)1 Taipale M....Lindquist S. (Cell 2012)

    (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: 90293 HGNC: 22931 AceView: KLHL13 Ensembl:ENSG00000003096 euGenes: HUgn90293
    ECgene: KLHL13 Kegg: 90293 H-InvDB: KLHL13

    (According to HUGE)
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    HUGE: KIAA1309

    (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 KLHL13 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 KLHL13 gene:
    Search GeneIP for patents involving KLHL13

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



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