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

KLHL23 Gene

protein-coding   GIFtS: 45
GCID: GC02P170551

Kelch-Like Family Member 23

(Previous name: kelch-like 23 (Drosophila))
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Kelch-Like Family Member 231 2
Kelch-Like 23 (Drosophila)1
DITHP2
Kelch-Like 232
Kelch-Like Protein 232

External Ids:    HGNC: 275061   Entrez Gene: 1512302   Ensembl: ENSG000002131607   UniProtKB: Q8NBE83   

Export aliases for KLHL23 gene to outside databases

Previous GC identifers: GC02P170417 GC02P170260 GC02P162442


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

GeneCards Summary for KLHL23 Gene: 
KLHL23 (kelch-like family member 23) is a protein-coding gene. Diseases associated with KLHL23 include cone-rod dystrophy. An important paralog of this gene is KLHL21.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KLHL23 gene promoter:
         CREB   FOXF2   HSF2   FOXO1a   IRF-1   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   HNF-3beta   POU3F2   FOXL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKLHL23 promoter sequence
   Search SABiosciences Chromatin IP Primers for KLHL23

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KLHL23


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

Entrez Gene cytogenetic band: 2q31.1   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q31.1

KLHL23 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHL23 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P170551:  view genomic region     (about GC identifiers)

Start:
170,550,998 bp from pter      End:
170,633,499 bp from pter
Size:
82,502 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KLH23_HUMAN, Q8NBE8 (See protein sequence)
Recommended Name: Kelch-like protein 23  
Size: 558 amino acids; 63923 Da
Sequence caution: Sequence=BAC04490.1; Type=Erroneous initiation;
Secondary accessions: Q8N9B9 Q96FT8

Explore the universe of human proteins at neXtProt for KLHL23: NX_Q8NBE8

Explore proteomics data for KLHL23 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NBE8

  • KLHL23 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KLHL23 Protein Expression
    REFSEQ proteins: NP_653312.2  
    ENSEMBL proteins: 
     ENSP00000474581   ENSP00000272797   ENSP00000475081   ENSP00000376419   ENSP00000394732  
     ENSP00000400833  

    Human Recombinant Protein Products for KLHL23: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    BTBD: BTB/POZ domain containing
    KLHL: Kelch-like

    5/7 InterPro protein domains (see all 7):
     IPR006652 Kelch_1
     IPR011333 BTB/POZ_fold
     IPR017096 Kelch-like_gigaxonin
     IPR015916 Gal_Oxidase_b-propeller
     IPR013069 BTB_POZ

    Graphical View of Domain Structure for InterPro Entry Q8NBE8

    ProtoNet protein and cluster: Q8NBE8

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


    UniProtKB/Swiss-Prot: KLH23_HUMAN, Q8NBE8
    Similarity: Contains 1 BACK (BTB/Kelch associated) domain
    Similarity: Contains 1 BTB (POZ) domain
    Similarity: Contains 6 Kelch repeats


    KLHL23 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    KLHL23 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KLHL23 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KLHL23 
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    miRNA
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    hsa-miR-642a hsa-miR-520d-5p hsa-let-7d hsa-miR-3942-5p hsa-miR-624* hsa-miR-944 hsa-let-7c hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidKLHL23 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL23


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KLHL23

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5/6 Interacting proteins for KLHL23 (Q8NBE82, 3 ENSP000002727974) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ANXA1P040832, 3MINT-8247808 I2D: score=2 
    ANXA7P200732, 3MINT-8248483 I2D: score=2 
    CDKN1AP389362, 3MINT-8252024 I2D: score=2 
    TK1P041832, 3MINT-8273653 I2D: score=2 
    BNIP3LO602382, 3, ENSP000003700034MINT-8249630 I2D: score=2 STRING: ENSP00000370003
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 KLHL23 (KLH23)

    Search CenterWatch for drugs/clinical trials and news about KLHL23 / KLH23

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KLHL23 gene: 
    NM_144711.5  

    Unigene Cluster for KLHL23:

    Kelch-like family member 23
    Hs.655150  [show with all ESTs]
    Unigene Representative Sequence: NM_001199290
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000498202 ENST00000272797 ENST00000602521 ENST00000392647(uc002ufh.2 uc002ufi.2)
    ENST00000437875 ENST00000494387 ENST00000448589
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KLHL23
    8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate KLHL23 (see all 29):
    hsa-miR-642a hsa-miR-520d-5p hsa-let-7d hsa-miR-3942-5p hsa-miR-624* hsa-miR-944 hsa-let-7c hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidKLHL23 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for KLHL23
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KLHL23
    Clone
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    OriGene ORF clones in mouse, rat for KLHL23
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KLHL23 (NM_144711)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KLHL23
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLHL23
    Sirion Biotech Customized lentivirus for stable overexpression of KLHL23 
                         Customized lentivirus expression plasmids for stable overexpression of KLHL23 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for KLHL23
    OriGene qSTAR qPCR primer pairs in human, mouse for KLHL23
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KLHL23
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KLHL23
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KLHL23

    Additional mRNA sequence: 

    AK095131.1 AK123454.1 BC010437.1 BC012382.1 BC016950.1 

    5 DOTS entries:

    DT.75139201  DT.422027  DT.95253930  DT.65288454  DT.97822293 

    24/82 AceView cDNA sequences (see all 82):

    AI139809 AA774547 AK090653 AX746559 AA610474 CR602210 BX500650 AI304487 
    BQ229603 AA348620 AA348884 AW592552 AA883515 BM763772 AI286028 BG106656 
    BQ879272 AW117330 AI018553 AA918024 BM762290 AI691127 BG029072 BM820383 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, 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

    KLHL23 expression in normal human tissues (normalized intensities)      KLHL23 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGAAGGTAA
    KLHL23 Expression
    About this image


    KLHL23 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Thalamus
             Olfactory Bulb   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Ovary (Reproductive System)
             Pre-Granulosa Cells Primordial Follicle

    See KLHL23 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KLHL23

    SOURCE GeneReport for Unigene cluster: Hs.655150
        SABiosciences Custom PCR Arrays for KLHL23
    Primer
    Products:
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL23

    (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 chordates.

    Orthologs for KLHL23 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Klhl231 , 5 kelch-like 23 (Drosophila)1, 5 90.2(n)1
    97.13(a)1
      2 (40.95 cM)5
    2773961  NM_177784.41  NP_808452.21 
     698219445 
    chicken
    (Gallus gallus)
    Aves KLHL231 kelch-like 23 (Drosophila) 72.7(n)
    75.27(a)
      429025  XM_426582.2  XP_426582.2 
    lizard
    (Anolis carolinensis)
    Reptilia KLHL236
    Uncharacterized protein
    77(a)
    1 ↔ 1
    GL343362.1(544684-549131)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5596131 kelch-like protein 23-like 64.09(n)
    60.61(a)
      559613  XM_682971.2  XP_688063.2 


    ENSEMBL Gene Tree for KLHL23 (if available)
    TreeFam Gene Tree for KLHL23 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KLHL23 gene
    PHOSPHO2-KLHL23  KLHL212  KLHL62  KBTBD82  KLHL412  KBTBD122  KBTBD22  KLHL242  
    ENC12  KLHL382  KLHL292  KBTBD32  KLHL402  KLHL72  KBTBD72  KLHL302  
    KBTBD62  KLHL252  KLHL352  
    14 SIMAP similar genes for KLHL23 using alignment to 4 protein entries:     KLH23_HUMAN (see all proteins):
    KBTBD3    KLHL17    KLHL20    KLHL13    ENC1    KLHL25
    KLHL5    KLHL1    KLHL10    KLHL2    KLHL24    KLHL6
    KLHL3    KLHL38

    KLHL23 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) 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
    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for KLHL23:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2721119CNV Deletion23290073
    esv1784706CNV Insertion17803354
    esv1586748CNV Insertion17803354
    nsv834454CNV Loss17160897
    nsv10201CNV Loss18304495

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KLHL23
    DNA2.0 Custom Variant and Variant Library Synthesis for KLHL23

    (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.)
    About This Section
    2 diseases for KLHL23:    About MalaCards
    cone-rod dystrophy    

    1 disease from the University of Copenhagen DISEASES database for KLHL23:
    cone-rod dystrophy

    KLHL23 for disorders           About GeneDecksing


    Export disorders for KLHL23 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 KLHL23 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with KLHL23)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    4. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    5. Quantitative analysis of HSP90-client interactions rev eals principles of substrate recognition. (PubMed id 22939624)1 Taipale M....Lindquist S. (2012)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    9. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    10. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 151230 HGNC: 27506 AceView: MGC22679 Ensembl:ENSG00000213160 euGenes: HUgn151230
    ECgene: KLHL23 H-InvDB: KLHL23

    (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 KLHL23 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 KLHL23 gene:
    Search GeneIP for patents involving KLHL23

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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