Human Gene KBTBD12 (ENST00000405109.5) from GENCODE V44
  Description: Homo sapiens kelch repeat and BTB domain containing 12 (KBTBD12), transcript variant 1, mRNA. (from RefSeq NM_207335)
Gencode Transcript: ENST00000405109.5
Gencode Gene: ENSG00000187715.13
Transcript (Including UTRs)
   Position: hg38 chr3:127,915,232-127,987,666 Size: 72,435 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg38 chr3:127,923,062-127,984,278 Size: 61,217 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:127,915,232-127,987,666)mRNA (may differ from genome)Protein (623 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsHGNC
HPRDLynxMalacardsMGIneXtProtPubMed
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KBTBC_HUMAN
DESCRIPTION: RecName: Full=Kelch repeat and BTB domain-containing protein 12; AltName: Full=Kelch domain-containing protein 6;
SIMILARITY: Contains 1 BACK (BTB/Kelch associated) domain.
SIMILARITY: Contains 1 BTB (POZ) domain.
SIMILARITY: Contains 4 Kelch repeats.

-  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


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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.75 RPKM in Muscle - Skeletal
Total median expression: 44.27 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 -193.00467-0.413 Picture PostScript Text
3' UTR -1220.703388-0.360 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
IPR017096 - Kelch-like_gigaxonin
IPR015915 - Kelch-typ_b-propeller
IPR006652 - Kelch_1

Pfam Domains:
PF07707 - BTB And C-terminal Kelch
PF00651 - BTB/POZ domain
PF01344 - Kelch motif

ModBase Predicted Comparative 3D Structure on Q3ZCT8
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004842 ubiquitin-protein transferase activity

Biological Process:
GO:0016567 protein ubiquitination

Cellular Component:
GO:0031463 Cul3-RING ubiquitin ligase complex


-  Descriptions from all associated GenBank mRNAs
  AK307108 - Homo sapiens cDNA, FLJ97056.
BX537865 - Homo sapiens mRNA; cDNA DKFZp779E2271 (from clone DKFZp779E2271).
AB590042 - Synthetic construct DNA, clone: pFN21AE0480, Homo sapiens KLHDC6 gene for kelch repeat and BTB (POZ) domain containing 12, without stop codon, in Flexi system.
AM393308 - Synthetic construct Homo sapiens clone IMAGE:100003030 for hypothetical protein (KLHDC6 gene).
AM393457 - Synthetic construct Homo sapiens clone IMAGE:100003011 for hypothetical protein (KLHDC6 gene).
AK128176 - Homo sapiens cDNA FLJ46299 fis, clone TESTI4035898.
BC041365 - Homo sapiens kelch domain containing 6, mRNA (cDNA clone IMAGE:5273290), partial cds.
JD027253 - Sequence 8277 from Patent EP1572962.
JD034233 - Sequence 15257 from Patent EP1572962.
JD035709 - Sequence 16733 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B5MCC6, ENST00000405109.1, ENST00000405109.2, ENST00000405109.3, ENST00000405109.4, KBTBC_HUMAN, KLHDC6, NM_207335, Q3ZCT8, Q6ZRK1, uc062nne.1
UCSC ID: ENST00000405109.5
RefSeq Accession: NM_207335
Protein: Q3ZCT8 (aka KBTBC_HUMAN)
CCDS: CCDS33848.2

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