Human Gene KCTD17 (ENST00000403888.8_8) from GENCODE V47lift37
  Description: potassium channel tetramerization domain containing 17, transcript variant 1 (from RefSeq NM_001282684.2)
Gencode Transcript: ENST00000403888.8_8
Gencode Gene: ENSG00000100379.18_15
Transcript (Including UTRs)
   Position: hg19 chr22:37,447,782-37,459,430 Size: 11,649 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr22:37,447,801-37,458,634 Size: 10,834 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:37,447,782-37,459,430)mRNA (may differ from genome)Protein (314 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KCD17_HUMAN
DESCRIPTION: RecName: Full=BTB/POZ domain-containing protein KCTD17;
INTERACTION: Self; NbExp=2; IntAct=EBI-743960, EBI-743960;
SIMILARITY: Contains 1 BTB (POZ) domain.
SEQUENCE CAUTION: Sequence=AAH25403.1; Type=Miscellaneous discrepancy; Note=The sequence differs in the N-terminus for unknown reasons; Sequence=AAH31038.1; Type=Erroneous initiation;

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: KCTD17
Diseases sorted by gene-association score: dystonia 26, myoclonic* (1319), dystonia (9)
* = 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: 66.55 RPKM in Brain - Putamen (basal ganglia)
Total median expression: 676.16 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 -7.1019-0.374 Picture PostScript Text
3' UTR -385.60796-0.484 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
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR003131 - T1-type_BTB

Pfam Domains:
PF02214 - BTB/POZ domain

SCOP Domains:
54695 - POZ domain

ModBase Predicted Comparative 3D Structure on Q8N5Z5
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 DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0042802 identical protein binding
GO:0097602 cullin family protein binding

Biological Process:
GO:0030030 cell projection organization
GO:0032469 endoplasmic reticulum calcium ion homeostasis
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0045724 positive regulation of cilium assembly
GO:0051260 protein homooligomerization

Cellular Component:
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0031463 Cul3-RING ubiquitin ligase complex


-  Descriptions from all associated GenBank mRNAs
  KJ906318 - Synthetic construct Homo sapiens clone ccsbBroadEn_15988 KCTD17 gene, encodes complete protein.
KJ903212 - Synthetic construct Homo sapiens clone ccsbBroadEn_12606 KCTD17 gene, encodes complete protein.
KJ904876 - Synthetic construct Homo sapiens clone ccsbBroadEn_14270 KCTD17 gene, encodes complete protein.
LF210346 - JP 2014500723-A/17849: Polycomb-Associated Non-Coding RNAs.
BC025403 - Homo sapiens potassium channel tetramerisation domain containing 17, mRNA (cDNA clone MGC:33167 IMAGE:4824153), complete cds.
BC031038 - Homo sapiens potassium channel tetramerisation domain containing 17, mRNA (cDNA clone MGC:32954 IMAGE:5277700), complete cds.
BC009961 - Homo sapiens potassium channel tetramerisation domain containing 17, mRNA (cDNA clone IMAGE:4300199), with apparent retained intron.
JD449156 - Sequence 430180 from Patent EP1572962.
AK022304 - Homo sapiens cDNA FLJ12242 fis, clone MAMMA1001292.
AK308720 - Homo sapiens cDNA, FLJ98761.
LF337194 - JP 2014500723-A/144697: Polycomb-Associated Non-Coding RNAs.
JD471520 - Sequence 452544 from Patent EP1572962.
JD351396 - Sequence 332420 from Patent EP1572962.
JD062559 - Sequence 43583 from Patent EP1572962.
JD480696 - Sequence 461720 from Patent EP1572962.
JD473837 - Sequence 454861 from Patent EP1572962.
JD226537 - Sequence 207561 from Patent EP1572962.
JD253589 - Sequence 234613 from Patent EP1572962.
JD231108 - Sequence 212132 from Patent EP1572962.
JD518610 - Sequence 499634 from Patent EP1572962.
JD492278 - Sequence 473302 from Patent EP1572962.
JD415356 - Sequence 396380 from Patent EP1572962.
JD082516 - Sequence 63540 from Patent EP1572962.
JD485168 - Sequence 466192 from Patent EP1572962.
JD218439 - Sequence 199463 from Patent EP1572962.
JD483397 - Sequence 464421 from Patent EP1572962.
JD475222 - Sequence 456246 from Patent EP1572962.
JD211312 - Sequence 192336 from Patent EP1572962.
JD137012 - Sequence 118036 from Patent EP1572962.
JD320428 - Sequence 301452 from Patent EP1572962.
MA445923 - JP 2018138019-A/17849: Polycomb-Associated Non-Coding RNAs.
MA572771 - JP 2018138019-A/144697: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: B0QYA9, B0QYB0, ENST00000403888.1, ENST00000403888.2, ENST00000403888.3, ENST00000403888.4, ENST00000403888.5, ENST00000403888.6, ENST00000403888.7, KCD17_HUMAN, KCTD17 , NM_001282684, O95517, Q8N5Z5, uc319ckq.1, uc319ckq.2
UCSC ID: ENST00000403888.8_8
RefSeq Accession: NM_001282684.2
Protein: Q8N5Z5 (aka KCD17_HUMAN)

-  Gene Model Information
  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.