Human Gene KLHL3 (uc010jem.1)
  Description: Homo sapiens kelch-like family member 3 (KLHL3), transcript variant 1, mRNA.
RefSeq Summary (NM_001257194): 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].
Transcript (Including UTRs)
   Position: hg19 chr5:136,972,983-137,071,779 Size: 98,797 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr5:136,972,984-137,071,335 Size: 98,352 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:136,972,983-137,071,779)mRNA (may differ from genome)Protein (400 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HGNCLynxMalacardsMGIOMIMPubMed
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: D6RH21_HUMAN
DESCRIPTION: SubName: Full=Kelch-like protein 3; Flags: Fragment;
SIMILARITY: Contains 1 BTB (POZ) domain.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KLHL3
CDC HuGE Published Literature: KLHL3
Positive Disease Associations: Arteries
Related Studies:
  1. Arteries
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: KLHL3
Diseases sorted by gene-association score: pseudohypoaldosteronism, type iid* (1669), pseudohypoaldosteronism, type iia* (283), pseudohypoaldosteronism, type iie* (231), pseudohypoaldosteronism (18), metabolic acidosis (17), familial hypertension (17), renal tubular transport disease (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.25 RPKM in Brain - Cerebellum
Total median expression: 173.47 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -179.59444-0.404 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011705 - BACK
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR013069 - BTB_POZ
IPR015916 - Gal_Oxidase_b-propeller
IPR006652 - Kelch_1

Pfam Domains:
PF00651 - BTB/POZ domain
PF01344 - Kelch motif
PF07707 - BTB And C-terminal Kelch
PF13415 - Galactose oxidase, central domain

SCOP Domains:
50965 - Galactose oxidase, central domain
54695 - POZ domain

ModBase Predicted Comparative 3D Structure on D6RH21
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
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-  Descriptions from all associated GenBank mRNAs
  AF208069 - Homo sapiens kelch-like protein KLHL3c (KLHL3c) mRNA, complete cds.
AF208070 - Homo sapiens kelch-like protein KLHL3b (KLHL3b) mRNA, complete cds.
AF208068 - Homo sapiens kelch-like protein KLHL3a (KLHL3a) mRNA, complete cds.
AB032955 - Homo sapiens KIAA1129 mRNA for KIAA1129 protein.
AK300172 - Homo sapiens cDNA FLJ50667 complete cds, highly similar to Kelch-like protein 3.
AK303916 - Homo sapiens cDNA FLJ52387 complete cds, highly similar to Kelch-like protein 3.
AK314707 - Homo sapiens cDNA, FLJ95562, highly similar to Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.
AB384118 - Synthetic construct DNA, clone: pF1KSDA1129, Homo sapiens KLHL3 gene for kelch-like protein 3, complete cds, without stop codon, in Flexi system.
AK311594 - Homo sapiens cDNA, FLJ18636.
AK098190 - Homo sapiens cDNA FLJ40871 fis, clone TSTOM2000569, highly similar to Kelch (Drosophila)-like 3.
BC034035 - Homo sapiens kelch-like 3 (Drosophila), mRNA (cDNA clone MGC:26234 IMAGE:4817650), complete cds.
AK310568 - Homo sapiens cDNA, FLJ17610.
KJ902428 - Synthetic construct Homo sapiens clone ccsbBroadEn_11822 KLHL3 gene, encodes complete protein.
BX648362 - Homo sapiens mRNA; cDNA DKFZp686D12185 (from clone DKFZp686D12185).
CU689818 - Synthetic construct Homo sapiens gateway clone IMAGE:100018767 5' read KLHL3 mRNA.
JD051871 - Sequence 32895 from Patent EP1572962.
JD368093 - Sequence 349117 from Patent EP1572962.
JD066885 - Sequence 47909 from Patent EP1572962.
JD368347 - Sequence 349371 from Patent EP1572962.
JD272259 - Sequence 253283 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AK098190, D6RH21, D6RH21_HUMAN, NM_001257194, NP_001244123
UCSC ID: uc010jem.1
RefSeq Accession: NM_001257194
Protein: D6RH21

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene KLHL3:
pha2 (Pseudohypoaldosteronism Type II)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK098190.1
exon count: 10CDS single in 3' UTR: no RNA size: 2199
ORF size: 1200CDS single in intron: no Alignment % ID: 99.87
txCdsPredict score: 2396.00frame shift in genome: no % Coverage: 71.40
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.