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

KLHL3 Gene

protein-coding   GIFtS: 53
GCID: GC05M136953

Kelch-Like Family Member 3

(Previous names: kelch (Drosophila)-like 3, kelch-like 3 (Drosophila))
  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)
About This Section

Aliases
Kelch-Like Family Member 31 2
Kelch (Drosophila)-Like 31
Kelch-Like 3 (Drosophila)1
PHA2D2
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 may act by mediating ubiquitination of
SLC12A3/NCC, thereby regulating SLC12A3/NCC subcellular location at the cell membrane




(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_000005.9  NT_034772.6  NC_018916.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for KLHL3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Cytoplasm, cytoskeleton. Cytoplasm, cytosol
Sequence caution: Sequence=AAB97127.1; Type=Erroneous gene model prediction; Sequence=BAA86443.1; Type=Erroneous
initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for KLHL3:
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UH77

  • KLHL3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KLHL3 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001244123.1  NP_001244124.1  NP_059111.2  

    ENSEMBL proteins: 
     ENSP00000424828   ENSP00000422099   ENSP00000312397   ENSP00000423585   ENSP00000426173  
     ENSP00000440319   ENSP00000378395  

    Human Recombinant Protein Products for KLHL3: 
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    Cloud-Clone Corp. Proteins for KLHL3 

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

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

    KLHL3 for ontologies           About GeneDecksing



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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 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


    KLHL3 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

    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 may act by mediating ubiquitination of
    SLC12A3/NCC, thereby regulating SLC12A3/NCC subcellular location at the cell membrane

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005198structural molecule activity TAS10843806
    GO:0005515protein binding IPI--
         
    KLHL3 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KLHL3 
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    (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



    UniProtKB/Swiss-Prot: KLHL3_HUMAN, Q9UH77
    Pathway: Protein modification; protein ubiquitination

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KLHL3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/19 Interacting proteins for KLHL3 (Q9UH772, 3 ENSP000003123974) via UniProtKB, MINT, STRING, and/or I2D (see all 19)

    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): 5/6 biological process terms (GO ID links to tree view) (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--

    KLHL3 for ontologies           About GeneDecksing



    (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 KLHL3

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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
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    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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    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 

    24/77 AceView cDNA sequences (see all 77):

    AA747820 CR605632 AL705380 CR625476 CA433348 AA448066 AA461256 AI538174 
    AI572828 AA449403 N81009 AL547482 BQ446837 BE088561 AA460949 AW183596 
    BC045683 BX508629 BP344606 AI822124 AI241199 N81032 AI871245 NM_017415 

    GeneLoc Exon Structure

    5/7 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™, 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

    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


    See KLHL3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KLHL3

    SOURCE GeneReport for Unigene cluster: Hs.655084

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

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for KLHL3 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Klhl31 , 5 kelch-like 3 (Drosophila)1, 5 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) 81.65(n)
    94.33(a)
      416303  XM_414621.3  XP_414621.3 
    lizard
    (Anolis carolinensis)
    Reptilia KLHL36
    Uncharacterized protein
    94(a)
    1 ↔ 1
    2(142444140-142531627)
    zebrafish
    (Danio rerio)
    Actinopterygii klhl31 kelch-like 3 (Drosophila) 74.04(n)
    81.53(a)
      568556  XM_691888.3  XP_696980.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta kel1 , 3 oogenesis actin binding3
    kelch1
    60(a)
    (best of 4)3
    61.79(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
    Protein KEL-11
    42(a)
    (best of 3)3
    49.19(n)1
    45.44(a)1
      II(11688872-11695905)3
    1747911  NM_064095.61  NP_496496.11 


    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)
    About This Section
    Paralogs for KLHL3 gene
    KLHL172  KLHL182  KLHL202  KLHL52  KLHL122  KEAP12  KLHL282  KLHL42  
    IPP2  KLHL82  KLHL102  KLHL12  KLHL22  
    18/43 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

    KLHL3 for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2067 SNPs in KLHL3 are shown (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
    ----------
    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--------
    VAR_0675224
    Pseudohypoaldosteronism 2D (PHA2D)4--see VAR_0675222 S N mis40--------
    VAR_0675294
    Pseudohypoaldosteronism 2D (PHA2D)4--see VAR_0675292 N K mis40--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/17 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605775    OMIM disorders: --

    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

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

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

    KLHL3 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for KLHL3 gene, integrated from 9 sources (see all 18):
    (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. (2000)
    2. 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. (2012)
    3. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. (PubMed id 22266938)1, 2 Boyden L.M.... Lifton R.P. (2012)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)1, 2 Schmutz J.... Rubin E.M. (2004)
    6. Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin ligases. (PubMed id 14528312)1, 2 Furukawa M.... Xiong Y. (2003)
    7. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2 Hirosawa M.... Ohara O. (1999)
    8. Disease-causing mutations in KLHL3 impair its effect o n WNK4 degradation. (PubMed id 23665031)1 Wu G. and Peng J.B. (2013)
    9. Kelch-like 3 and Cullin 3 regulate electrolyte homeost asis via ubiquitination and degradation of WNK4. (PubMed id 23576762)1 Shibata S....Lifton R.P. (2013)
    10. Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension. (PubMed id 23453970)1 Wakabayashi M....Uchida S. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 26249 HGNC: 6354 AceView: KLHL3 Ensembl:ENSG00000146021 euGenes: HUgn26249
    ECgene: KLHL3 H-InvDB: KLHL3

    (According to HUGE)
    About This Section
    HUGE: KIAA1129

    (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 KLHL3 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 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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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