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KLHL3 Gene

protein-coding   GIFtS: 53
GCID: GC05M136953

Kelch-Like Family Member 3

(Previous names: kelch (Drosophila)-like 3, kelch-like 3 (Drosophila))
  See KLHL3-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
Kelch-Like Family Member 31 2
PHA2D2 5
Kelch (Drosophila)-Like 31
Kelch-Like 3 (Drosophila)1
Kelch-Like Protein 32
KIAA11293

External Ids:    HGNC: 63541   Entrez Gene: 262492   Ensembl: ENSG000001460217   OMIM: 6057755   UniProtKB: Q9UH773   

Export aliases for KLHL3 gene to outside databases

Previous GC identifers: GC05M136828 GC05M137626 GC05M136984 GC05M137029 GC05M136981 GC05M132139


(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 KLHL3 Gene:
This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed
by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate
ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a
cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID
(PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative
splicing results in multiple transcript variants encoding distinct isoforms. (provided by RefSeq, Mar 2012)

GeneCards Summary for KLHL3 Gene:
KLHL3 (kelch-like family member 3) is a protein-coding gene. Diseases associated with KLHL3 include pseudohypoaldosteronism type iid, and metabolic acidosis. GO annotations related to this gene include actin binding and structural molecule activity. An important paralog of this gene is KLHL17.

UniProtKB/Swiss-Prot: KLHL3_HUMAN, Q9UH77
Function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator
of ion transport in the distal nephron. The BCR(KLHL3) complex acts by mediating ubiquitination of WNK4, an
inhibitor of potassium channel KCNJ1, leading to WNK4 degradation




(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_000005.10  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the KLHL3 gene promoter:
         SRF   N-Myc   AML1a   HFH-1   p300   CUTL1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKLHL3 promoter sequence
   Search Chromatin IP Primers for KLHL3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KLHL3


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

Entrez Gene cytogenetic band: 5q31   Ensembl cytogenetic band:  5q31.2   HGNC cytogenetic band: 5q31

KLHL3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLHL3 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M136953:  view genomic region     (about GC identifiers)

Start:
136,953,189 bp from pter      End:
137,071,779 bp from pter
Size:
118,591 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: KLHL3_HUMAN, Q9UH77 (See protein sequence)
Recommended Name: Kelch-like protein 3  
Size: 587 amino acids; 64970 Da
Subunit: Component of the BCR(KLHL3) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL3 and RBX1
(Probable). Interacts with SLC12A3. Interacts with WNK1 and WNK4
Caution: The BCR(KLHL3) complex was initially thought to act by mediating ubiquitination of SLC12A3/NCC
(PubMed:22406640). However, it was later shown that effects on SLC12A3/NCC are indirect and caused by impaired
ubiquitination of WNK4 (PubMed:23387299)
Sequence caution: Sequence=AAB97127.1; Type=Erroneous gene model prediction; Sequence=BAA86443.1; Type=Erroneous
initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for KLHL3:
4CH9 (3D)        4HXI (3D)    
Secondary accessions: B2RBK7 Q9UH75 Q9UH76 Q9ULU0 Q9Y6V6
Alternative splicing: 3 isoforms:  Q9UH77-1   Q9UH77-2   Q9UH77-3   

Explore the universe of human proteins at neXtProt for KLHL3: NX_Q9UH77

Explore proteomics data for KLHL3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KLHL3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001244123.1  NP_001244124.1  NP_059111.2  

    ENSEMBL proteins: 
     ENSP00000424828   ENSP00000422099   ENSP00000312397   ENSP00000423585   ENSP00000426173  
     ENSP00000440319   ENSP00000378395  

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    (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 Q9UH77

    ProtoNet protein and cluster: Q9UH77

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


    UniProtKB/Swiss-Prot: KLHL3_HUMAN, Q9UH77
    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 KLHL3           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: KLHL3_HUMAN, Q9UH77
    Function: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator
    of ion transport in the distal nephron. The BCR(KLHL3) complex acts by mediating ubiquitination of WNK4, an
    inhibitor of potassium channel KCNJ1, leading to WNK4 degradation

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005198structural molecule activity TAS10843806
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with KLHL3           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for KLHL3:
     High actin ratio cells  Increased cell death HMECs cel  Synthetic lethal with c-Myc af 

    Animal Models:
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    miRNA
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    hsa-mir-92a-3p (MIRT049738), hsa-mir-1 (MIRT023657)

    Block miRNA regulation of human, mouse, rat KLHL3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KLHL3 (see all 111):
    hsa-miR-323-3p hsa-miR-548j hsa-miR-640 hsa-miR-199a-3p hsa-miR-411 hsa-miR-3921 hsa-miR-149 hsa-miR-3613-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLHL3

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    (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
    KLHL3_HUMAN, Q9UH77: Cytoplasm, cytoskeleton. Cytoplasm, cytosol
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IDA--
    GO:0005856cytoskeleton IEA--
    GO:0031463Cul3-RING ubiquitin ligase complex TAS--

    Find genes that share ontologies with KLHL3           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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    UniProtKB/Swiss-Prot: KLHL3_HUMAN, Q9UH77
    Pathway: Protein modification; protein ubiquitination

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KLHL3
    Interactions:

        Search GeneGlobe Interaction Network for KLHL3

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

    Selected Interacting proteins for KLHL3 (Q9UH772, 3 ENSP000003123974) via UniProtKB, MINT, STRING, and/or I2D (see all 26)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    GNAO1P094713, ENSP000002624934I2D: score=1 STRING: ENSP00000262493
    OPRD1P411433, ENSP000002349614I2D: score=1 STRING: ENSP00000234961
    SYT2Q8N9I03, ENSP000003562364I2D: score=1 STRING: ENSP00000356236
    GNAI1P630963, ENSP000003430274I2D: score=1 STRING: ENSP00000343027
    SYNCRIPO605063, ENSP000003586354I2D: score=1 STRING: ENSP00000358635
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016567protein ubiquitination TAS--
    GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process IDA--
    GO:0050801ion homeostasis IMP--
    GO:0070294renal sodium ion absorption IMP--
    GO:0070936protein K48-linked ubiquitination IDA--

    Find genes that share ontologies with KLHL3           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 KLHL3



    (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 KLHL3 gene (3 alternative transcripts): 
    NM_001257194.1  NM_001257195.1  NM_017415.2  

    Unigene Cluster for KLHL3:

    Kelch-like family member 3
    Hs.655084  [show with all ESTs]
    Unigene Representative Sequence: NM_001257194
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000506491(uc011cyc.2 uc003lbr.4 uc011cyd.2 uc010jen.1)
    ENST00000508657 ENST00000309755(uc010jek.3 uc010jem.1) ENST00000509694
    ENST00000447439 ENST00000506873 ENST00000504208 ENST00000502381(uc010jel.1)
    ENST00000505853 ENST00000504496(uc003lbs.1) ENST00000514149 ENST00000515334
    ENST00000510529 ENST00000512977 ENST00000541417 ENST00000394937
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat KLHL3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KLHL3 (see all 111):
    hsa-miR-323-3p hsa-miR-548j hsa-miR-640 hsa-miR-199a-3p hsa-miR-411 hsa-miR-3921 hsa-miR-149 hsa-miR-3613-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Clone
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      QuantiFast Probe-based Assays in human, mouse, rat KLHL3

    Additional mRNA sequence: 

    AB032955.1 AF208068.1 AF208069.1 AF208070.1 AK300172.1 AK303916.1 AK310568.1 AK311594.1 
    AK314707.1 BC034035.1 BC045683.1 BX648362.1 

    11 DOTS entries:

    DT.100747092  DT.40110966  DT.99972715  DT.95366078  DT.102837484  DT.99971746  DT.101964815  DT.102837482 
    DT.120815884  DT.91882486  DT.95106212 

    Selected AceView cDNA sequences (see all 77):

    AL705380 AA448066 AA747820 AA449403 AI538174 AA461256 CA433348 AI572828 
    CR605632 CR625476 AI822124 AF208069 BI597589 AI274080 N81009 CK005517 
    AI822122 BI598734 BI670137 AF208068 AI436060 BQ181525 AB032955 AI871245 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KLHL3 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21
    SP1:                                      -                             -     -     -                 -                             -                     
    SP2:                    -                 -                             -     -     -                 -                             -                     
    SP3:                                                                    -     -     -                 -                             -                     
    SP4:                    -                 -                             -     -     -                                                                     
    SP5:                                                                                                                                                      


    ECgene alternative splicing isoforms for KLHL3

    (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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    KLHL3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTAATTTC
    KLHL3 Expression
    About this image

    KLHL3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KLHL3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655084

    UniProtKB/Swiss-Prot: KLHL3_HUMAN, Q9UH77
    Tissue specificity: Widely expressed

        Custom PCR Arrays for KLHL3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLHL3

    (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 KLHL3 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Klhl31 , 5 kelch-like 3 (Drosophila)5
    kelch-like 31
    87.77(n)1
    97.27(a)1
      13 (30.92 cM)5
    1005030851  NM_001195075.11  NP_001182004.11 
     580042215 
    chicken
    (Gallus gallus)
    Aves KLHL31 kelch-like 3 (Drosophila) 81.73(n)
    94.66(a)
      416303  XM_414621.4  XP_414621.4 
    lizard
    (Anolis carolinensis)
    Reptilia KLHL36
    kelch-like family member 3
    94(a)
    1 ↔ 1
    2(142444140-142531627)
    zebrafish
    (Danio rerio)
    Actinopterygii klhl31 kelch-like 3 (Drosophila) 74.04(n)
    81.53(a)
      568556  XM_691888.4  XP_696980.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta kel1 , 3 oogenesis actin binding3
    kelch1
    60(a)
    (best of 4)3
    61.73(n)1
    61.01(a)1
      36D33
    350841  NM_057241.21  NP_476589.41 
    worm
    (Caenorhabditis elegans)
    Secernentea kel-11 , 3 ring canal protein like3
    kel-11
    42(a)
    (best of 3)3
    49.14(n)1
    45.28(a)1
      II(11688872-11695905)3
    1747911  NM_001267381.11  NP_001254310.11 


    ENSEMBL Gene Tree for KLHL3 (if available)
    TreeFam Gene Tree for KLHL3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KLHL3 gene
    KLHL172  KLHL182  KLHL202  KLHL52  KLHL122  KEAP12  KLHL282  KLHL42  
    KLHL82  KLHL102  KLHL12  KLHL22  
    Selected SIMAP similar genes for KLHL3 using alignment to 6 protein entries:     KLHL3_HUMAN (see all proteins) (see all similar genes):
    KLHL2    ZBTB7C    BACH2    ZBTB49    KLHL17    KLHL20
    KLHL1    KLHL8    KLHL12    KBTBD8    KLHL18    BCL6
    DKFZp686H07112    KLHL5    DKFZp686P15123    KLHL4    KLHL28    KLHL29

    Find genes that share paralogs with KLHL3           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for KLHL3
    PGOHUM00000259867


    (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 KLHL3 (see all 2067)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2008925571,2,,4
    Pseudohypoaldosteronism 2D (PHA2D)4 --137250525(+) TGTCCA/GCACCC 6 R W mis10--------
    rs1994696241,2,,4
    CPseudohypoaldosteronism 2D (PHA2D)4 pathogenic1137321197(-) GTGCGA/G/TTGTTC 4 M V mis10--------
    VAR_0675164
    Pseudohypoaldosteronism 2D (PHA2D)4--see VAR_0675162 S L mis40--------
    VAR_0675284
    Pseudohypoaldosteronism 2D (PHA2D)4--see VAR_0675282 R H mis40--------
    VAR_0675094
    Pseudohypoaldosteronism 2D (PHA2D)4--see VAR_0675092 A V mis40--------
    VAR_0675194
    Pseudohypoaldosteronism 2D (PHA2D)4--see VAR_0675192 R Q mis40--------
    VAR_0675274
    Pseudohypoaldosteronism 2D (PHA2D)4--see VAR_0675272 R C mis40--------
    VAR_0675184
    Pseudohypoaldosteronism 2D (PHA2D)4--see VAR_0675182 M T mis40--------
    VAR_0675014
    Pseudohypoaldosteronism 2D (PHA2D)4--see VAR_0675012 A E mis40--------
    VAR_0675244
    Pseudohypoaldosteronism 2D (PHA2D)4--see VAR_0675242 A T mis40--------

    HapMap Linkage Disequilibrium report for KLHL3 (136953189 - 137071779 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KLHL3 (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1408200CNV Deletion17803354
    esv2673264CNV Deletion23128226
    esv2730815CNV Deletion23290073
    esv2886CNV Deletion18987735
    esv2042994CNV Deletion18987734
    esv2653233CNV Deletion19546169
    esv988201CNV Deletion20482838
    nsv509089CNV Insertion20534489
    esv989099CNV Insertion20482838
    esv272140CNV Insertion20981092

    Human Gene Mutation Database (HGMD): KLHL3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KLHL3
    DNA2.0 Custom Variant and Variant Library Synthesis for KLHL3

    (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: 605775   
    OMIM disorders: 614495  
    UniProtKB/Swiss-Prot: KLHL3_HUMAN, Q9UH77
  • Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]: A disorder characterized by severe hypertension,
    hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by
    thiazide diuretics. PHA2D inheritance is autosomal dominant or recessive. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 4 diseases for KLHL3:    
    About MalaCards
    pseudohypoaldosteronism type iid    metabolic acidosis    liddle syndrome    hypertension

    2 diseases from the University of Copenhagen DISEASES database for KLHL3:
    Pseudohypoaldosteronism     Liddle syndrome

    Find genes that share disorders with KLHL3           About GenesLikeMe

    Genetic Association Database (GAD): KLHL3

    Export disorders for KLHL3 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 KLHL3 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with KLHL3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of KLHL3, a human homologue of the Drosophila kelch gene. (PubMed id 10843806)1, 2, 3 Lai F.... Le Beau M.M. (Genomics 2000)
    2. Disease-causing mutations in KLHL3 impair its effect on WNK4 degradation. (PubMed id 23665031)1, 2 Wu G. and Peng J.B. (FEBS Lett. 2013)
    3. Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4. (PubMed id 23576762)1, 2 Shibata S....Lifton R.P. (Proc. Natl. Acad. Sci. U.S.A. 2013)
    4. Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension. (PubMed id 23453970)1, 2 Wakabayashi M....Uchida S. (Cell Rep 2013)
    5. Crystal structure of KLHL3 in complex with Cullin3. (PubMed id 23573258)1, 2 Ji A.X. and PrivAc G.G. (PLoS ONE 2013)
    6. The CUL3-KLHL3 E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction. (PubMed id 23387299)1, 2 Ohta A....Kurz T. (Biochem. J. 2013)
    7. KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron. (PubMed id 22406640)1, 2 Louis-Dit-Picard H.... Jeunemaitre X. (Nat. Genet. 2012)
    8. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. (PubMed id 22266938)1, 2 Boyden L.M.... Lifton R.P. (Nature 2012)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)1, 2 Schmutz J.... Rubin E.M. (Nature 2004)

    (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: 26249 HGNC: 6354 AceView: KLHL3 Ensembl:ENSG00000146021 euGenes: HUgn26249
    ECgene: KLHL3 H-InvDB: KLHL3

    (According to HUGE)
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    HUGE: KIAA1129

    (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 KLHL3 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 KLHL3 gene:
    Search GeneIP for patents involving KLHL3

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



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