Human Gene KLHL13 (uc011mtq.2)
  Description: Homo sapiens kelch-like family member 13 (KLHL13), transcript variant 5, mRNA.
RefSeq Summary (NM_001168302): This gene encodes a BTB and kelch domain containing protein and belongs to the kelch repeat domain containing superfamily of proteins. The encoded protein functions as an adaptor protein that complexes with Cullin 3 and other proteins to form the Cullin 3-based E3 ubiquitin-protein ligase complex. This complex is necessary for proper chromosome segregation and completion of cytokinesis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010].
Transcript (Including UTRs)
   Position: hg19 chrX:117,031,776-117,250,828 Size: 219,053 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chrX:117,032,871-117,162,436 Size: 129,566 Coding Exon Count: 7 

Page IndexSequence and LinksPrimersGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:117,031,776-117,250,828)mRNA (may differ from genome)Protein (639 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMGIOMIMPubMed
ReactomeUniProtKBBioGrid 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): KLHL13
CDC HuGE Published Literature: KLHL13
Positive Disease Associations: serum markers of iron status
Related Studies:
  1. serum markers of iron status
    Benyamin ,et al. 2008, Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels, American journal of human genetics 2009 84- 1 : 60-5. [PubMed 19084217]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 7.61 RPKM in Uterus
Total median expression: 79.25 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 -186.00382-0.487 Picture PostScript Text
3' UTR -262.861095-0.240 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
  Pfam Domains:
PF00651 - BTB/POZ domain
PF01344 - Kelch motif
PF07646 - Kelch motif
PF07707 - BTB And C-terminal Kelch
PF13415 - Galactose oxidase, central domain
PF13964 - Kelch motif

SCOP Domains:
63825 - YWTD domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
54695 - POZ domain

ModBase Predicted Comparative 3D Structure on Q9P2N7-3
FrontTopSide
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
  LF211445 - JP 2014500723-A/18948: Polycomb-Associated Non-Coding RNAs.
BC064576 - Homo sapiens kelch-like 13 (Drosophila), mRNA (cDNA clone MGC:74791 IMAGE:5727768), complete cds.
AB037730 - Homo sapiens KIAA1309 mRNA for KIAA1309 protein.
AK122724 - Homo sapiens cDNA FLJ16227 fis, clone FCBBF1000563, highly similar to Kelch-like protein 13.
AK125356 - Homo sapiens cDNA FLJ43366 fis, clone NT2RP8000296, highly similar to Kelch-like protein 13.
AL591986 - Novel human gene mapping to chromosome X (Xq23-Xq24), contains 6 kelch repeat domains(predicted by Interpro).
AK316509 - Homo sapiens cDNA, FLJ79408 complete cds, highly similar to Kelch-like protein 13.
AK297523 - Homo sapiens cDNA FLJ55342 complete cds, highly similar to Kelch-like protein 13.
AK296324 - Homo sapiens cDNA FLJ56095 complete cds, highly similar to Kelch-like protein 13.
AK302713 - Homo sapiens cDNA FLJ55504 complete cds, highly similar to Kelch-like protein 13.
AK299257 - Homo sapiens cDNA FLJ55461 complete cds, highly similar to Kelch-like protein 13.
EU446550 - Synthetic construct Homo sapiens clone IMAGE:100070336; IMAGE:100011759; FLH257248.01L kelch-like 13 (Drosophila) (KLHL13) gene, encodes complete protein.
MA447022 - JP 2018138019-A/18948: Polycomb-Associated Non-Coding RNAs.
BC008729 - Homo sapiens kelch-like 13 (Drosophila), mRNA (cDNA clone IMAGE:3163027), partial cds.
AK001124 - Homo sapiens cDNA FLJ10262 fis, clone HEMBB1000985, weakly similar to MIPP PROTEIN.
JD072830 - Sequence 53854 from Patent EP1572962.
LF379656 - JP 2014500723-A/187159: Polycomb-Associated Non-Coding RNAs.
JD098991 - Sequence 80015 from Patent EP1572962.
JD172232 - Sequence 153256 from Patent EP1572962.
JD245534 - Sequence 226558 from Patent EP1572962.
JD088238 - Sequence 69262 from Patent EP1572962.
JD304276 - Sequence 285300 from Patent EP1572962.
LF379657 - JP 2014500723-A/187160: Polycomb-Associated Non-Coding RNAs.
JD113151 - Sequence 94175 from Patent EP1572962.
JD354802 - Sequence 335826 from Patent EP1572962.
JD120081 - Sequence 101105 from Patent EP1572962.
JD317089 - Sequence 298113 from Patent EP1572962.
LF379658 - JP 2014500723-A/187161: Polycomb-Associated Non-Coding RNAs.
JD262819 - Sequence 243843 from Patent EP1572962.
LF379659 - JP 2014500723-A/187162: Polycomb-Associated Non-Coding RNAs.
LF379660 - JP 2014500723-A/187163: Polycomb-Associated Non-Coding RNAs.
LF379661 - JP 2014500723-A/187164: Polycomb-Associated Non-Coding RNAs.
LF379663 - JP 2014500723-A/187166: Polycomb-Associated Non-Coding RNAs.
LF379664 - JP 2014500723-A/187167: Polycomb-Associated Non-Coding RNAs.
LF379665 - JP 2014500723-A/187168: Polycomb-Associated Non-Coding RNAs.
LF379666 - JP 2014500723-A/187169: Polycomb-Associated Non-Coding RNAs.
LF379667 - JP 2014500723-A/187170: Polycomb-Associated Non-Coding RNAs.
LF379668 - JP 2014500723-A/187171: Polycomb-Associated Non-Coding RNAs.
MA615233 - JP 2018138019-A/187159: Polycomb-Associated Non-Coding RNAs.
MA615234 - JP 2018138019-A/187160: Polycomb-Associated Non-Coding RNAs.
MA615235 - JP 2018138019-A/187161: Polycomb-Associated Non-Coding RNAs.
MA615236 - JP 2018138019-A/187162: Polycomb-Associated Non-Coding RNAs.
MA615237 - JP 2018138019-A/187163: Polycomb-Associated Non-Coding RNAs.
MA615238 - JP 2018138019-A/187164: Polycomb-Associated Non-Coding RNAs.
MA615240 - JP 2018138019-A/187166: Polycomb-Associated Non-Coding RNAs.
MA615241 - JP 2018138019-A/187167: Polycomb-Associated Non-Coding RNAs.
MA615242 - JP 2018138019-A/187168: Polycomb-Associated Non-Coding RNAs.
MA615243 - JP 2018138019-A/187169: Polycomb-Associated Non-Coding RNAs.
MA615244 - JP 2018138019-A/187170: Polycomb-Associated Non-Coding RNAs.
MA615245 - JP 2018138019-A/187171: Polycomb-Associated Non-Coding RNAs.
LF379672 - JP 2014500723-A/187175: Polycomb-Associated Non-Coding RNAs.
LF379673 - JP 2014500723-A/187176: Polycomb-Associated Non-Coding RNAs.
LF379728 - JP 2014500723-A/187231: Polycomb-Associated Non-Coding RNAs.
MA615249 - JP 2018138019-A/187175: Polycomb-Associated Non-Coding RNAs.
MA615250 - JP 2018138019-A/187176: Polycomb-Associated Non-Coding RNAs.
MA615305 - JP 2018138019-A/187231: Polycomb-Associated Non-Coding RNAs.
JD487902 - Sequence 468926 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04120 - Ubiquitin mediated proteolysis

Reactome (by CSHL, EBI, and GO)

Protein Q9P2N7 (Reactome details) participates in the following event(s):

R-HSA-8955241 CAND1 binds cytosolic CRL E3 ubiquitin ligases
R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex
R-HSA-983147 Release of E3 from polyubiquitinated substrate
R-HSA-8955289 COMMDs displace CAND1 from cytosolic CRL E3 ubiquitin ligase complexes
R-HSA-8956040 COP9 signalosome deneddylates cytosolic CRL E3 ubiquitin ligase complexes
R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2
R-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-597592 Post-translational protein modification
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-392499 Metabolism of proteins
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: BKLHD2, KIAA1309, NM_001168302, NP_001161775, Q9P2N7-3
UCSC ID: uc011mtq.2
RefSeq Accession: NM_001168302
Protein: Q9P2N7-3, splice isoform of Q9P2N7 CCDS: CCDS14571.1, CCDS55479.1, CCDS55481.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001168302.1
exon count: 8CDS single in 3' UTR: no RNA size: 3415
ORF size: 1920CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3557.00frame shift in genome: no % Coverage: 99.47
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.