Human Gene KLHL3 (uc011cyc.2)
  Description: Homo sapiens kelch-like family member 3 (KLHL3), transcript variant 3, mRNA.
RefSeq Summary (NM_001257195): 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 chr5:136,953,189-137,008,616 Size: 55,428 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr5:136,957,787-136,997,663 Size: 39,877 Coding Exon Count: 8 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:136,953,189-137,008,616)mRNA (may differ from genome)Protein (322 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  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 -93.91318-0.295 Picture PostScript Text
3' UTR -1492.204598-0.325 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
IPR015916 - Gal_Oxidase_b-propeller
IPR006652 - Kelch_1

Pfam Domains:
PF01344 - Kelch motif
PF07646 - Kelch motif
PF13415 - Galactose oxidase, central domain
PF13964 - Kelch motif

SCOP Domains:
101898 - NHL repeat
50965 - Galactose oxidase, central domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase

ModBase Predicted Comparative 3D Structure on B7Z6E2
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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     
Gene Sorter     
      
      
      

-  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.
JD313701 - Sequence 294725 from Patent EP1572962.
JD327347 - Sequence 308371 from Patent EP1572962.
JD508240 - Sequence 489264 from Patent EP1572962.
JD419880 - Sequence 400904 from Patent EP1572962.
JD349054 - Sequence 330078 from Patent EP1572962.
JD505000 - Sequence 486024 from Patent EP1572962.
JD145241 - Sequence 126265 from Patent EP1572962.
JD153731 - Sequence 134755 from Patent EP1572962.
JD299186 - Sequence 280210 from Patent EP1572962.
JD564956 - Sequence 545980 from Patent EP1572962.
JD165978 - Sequence 147002 from Patent EP1572962.
JD300936 - Sequence 281960 from Patent EP1572962.
JD290456 - Sequence 271480 from Patent EP1572962.
JD098987 - Sequence 80011 from Patent EP1572962.
JD275508 - Sequence 256532 from Patent EP1572962.
JD486322 - Sequence 467346 from Patent EP1572962.
JD242067 - Sequence 223091 from Patent EP1572962.
JD559146 - Sequence 540170 from Patent EP1572962.
JD301841 - Sequence 282865 from Patent EP1572962.
JD359723 - Sequence 340747 from Patent EP1572962.
JD500063 - Sequence 481087 from Patent EP1572962.
JD348140 - Sequence 329164 from Patent EP1572962.
JD190150 - Sequence 171174 from Patent EP1572962.
JD332949 - Sequence 313973 from Patent EP1572962.
JD418354 - Sequence 399378 from Patent EP1572962.
JD376863 - Sequence 357887 from Patent EP1572962.
JD101615 - Sequence 82639 from Patent EP1572962.
JD048877 - Sequence 29901 from Patent EP1572962.
JD530923 - Sequence 511947 from Patent EP1572962.
JD275868 - Sequence 256892 from Patent EP1572962.
JD051757 - Sequence 32781 from Patent EP1572962.
JD423721 - Sequence 404745 from Patent EP1572962.
JD363977 - Sequence 345001 from Patent EP1572962.
JD281806 - Sequence 262830 from Patent EP1572962.
JD367808 - Sequence 348832 from Patent EP1572962.
JD309558 - Sequence 290582 from Patent EP1572962.
JD360867 - Sequence 341891 from Patent EP1572962.
JD127112 - Sequence 108136 from Patent EP1572962.
JD096588 - Sequence 77612 from Patent EP1572962.
JD488696 - Sequence 469720 from Patent EP1572962.
JD332767 - Sequence 313791 from Patent EP1572962.
JD097982 - Sequence 79006 from Patent EP1572962.
JD456257 - Sequence 437281 from Patent EP1572962.
JD097981 - Sequence 79005 from Patent EP1572962.
JD482260 - Sequence 463284 from Patent EP1572962.
JD257351 - Sequence 238375 from Patent EP1572962.
JD168549 - Sequence 149573 from Patent EP1572962.
JD067301 - Sequence 48325 from Patent EP1572962.
JD315830 - Sequence 296854 from Patent EP1572962.
JD362244 - Sequence 343268 from Patent EP1572962.
JD080441 - Sequence 61465 from Patent EP1572962.
JD271538 - Sequence 252562 from Patent EP1572962.
JD301821 - Sequence 282845 from Patent EP1572962.
DQ587427 - Homo sapiens piRNA piR-54539, complete sequence.
JD525408 - Sequence 506432 from Patent EP1572962.
JD274200 - Sequence 255224 from Patent EP1572962.
JD234563 - Sequence 215587 from Patent EP1572962.
JD299545 - Sequence 280569 from Patent EP1572962.
JD433049 - Sequence 414073 from Patent EP1572962.
JD521016 - Sequence 502040 from Patent EP1572962.
BC045683 - Homo sapiens kelch-like 3 (Drosophila), mRNA (cDNA clone IMAGE:5300647), complete cds.
JD062975 - Sequence 43999 from Patent EP1572962.
JD436355 - Sequence 417379 from Patent EP1572962.
JD058963 - Sequence 39987 from Patent EP1572962.
JD329556 - Sequence 310580 from Patent EP1572962.
JD500283 - Sequence 481307 from Patent EP1572962.
JD265568 - Sequence 246592 from Patent EP1572962.
JD496651 - Sequence 477675 from Patent EP1572962.
JD118450 - Sequence 99474 from Patent EP1572962.
JD241175 - Sequence 222199 from Patent EP1572962.
JD130481 - Sequence 111505 from Patent EP1572962.
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.

-  Other Names for This Gene
  Alternate Gene Symbols: AK300172, B7Z6E2, B7Z6E2_HUMAN, NM_001257195, NP_001244124
UCSC ID: uc011cyc.2
RefSeq Accession: NM_001257195
Protein: B7Z6E2

-  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: AK300172.1
exon count: 9CDS single in 3' UTR: no RNA size: 1881
ORF size: 969CDS single in intron: no Alignment % ID: 99.89
txCdsPredict score: 1848.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes 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.