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KCTD1 (potassium channel tetramerization domain containing 1)

Identity

Alias_namesC18orf5
potassium channel tetramerisation domain containing 1
Other aliasSENS
HGNC (Hugo) KCTD1
LocusID (NCBI) 284252
Atlas_Id 64817
Location 18q11.2  [Link to chromosome band 18q11]
Location_base_pair Starts at 26454911 and ends at 26549435 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
LOC728606 () / KCTD1 (18q11.2)PTPRM (18p11.23) / KCTD1 (18q11.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)KCTD1   18249
Cards
Entrez_Gene (NCBI)KCTD1  284252  potassium channel tetramerization domain containing 1
AliasesC18orf5; SENS
GeneCards (Weizmann)KCTD1
Ensembl hg19 (Hinxton)ENSG00000134504 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134504 [Gene_View]  chr18:26454911-26549435 [Contig_View]  KCTD1 [Vega]
ICGC DataPortalENSG00000134504
TCGA cBioPortalKCTD1
AceView (NCBI)KCTD1
Genatlas (Paris)KCTD1
WikiGenes284252
SOURCE (Princeton)KCTD1
Genetics Home Reference (NIH)KCTD1
Genomic and cartography
GoldenPath hg38 (UCSC)KCTD1  -     chr18:26454911-26549435 -  18q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KCTD1  -     18q11.2   [Description]    (hg19-Feb_2009)
EnsemblKCTD1 - 18q11.2 [CytoView hg19]  KCTD1 - 18q11.2 [CytoView hg38]
Mapping of homologs : NCBIKCTD1 [Mapview hg19]  KCTD1 [Mapview hg38]
OMIM181270   613420   
Gene and transcription
Genbank (Entrez)AF542549 AK289870 AL831954 AW575702 BC042371
RefSeq transcript (Entrez)NM_001136205 NM_001142730 NM_001258221 NM_001258222 NM_198991
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KCTD1
Cluster EST : UnigeneHs.526630 [ NCBI ]
CGAP (NCI)Hs.526630
Alternative Splicing GalleryENSG00000134504
Gene ExpressionKCTD1 [ NCBI-GEO ]   KCTD1 [ EBI - ARRAY_EXPRESS ]   KCTD1 [ SEEK ]   KCTD1 [ MEM ]
Gene Expression Viewer (FireBrowse)KCTD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)284252
GTEX Portal (Tissue expression)KCTD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ719H9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ719H9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ719H9
Splice isoforms : SwissVarQ719H9
PhosPhoSitePlusQ719H9
Domains : Interpro (EBI)BTB/POZ_dom    SKP1/BTB/POZ    T1-type_BTB   
Domain families : Pfam (Sanger)BTB_2 (PF02214)   
Domain families : Pfam (NCBI)pfam02214   
Domain families : Smart (EMBL)BTB (SM00225)  
Conserved Domain (NCBI)KCTD1
DMDM Disease mutations284252
Blocks (Seattle)KCTD1
PDB (SRS)5BXB    5BXD   
PDB (PDBSum)5BXB    5BXD   
PDB (IMB)5BXB    5BXD   
PDB (RSDB)5BXB    5BXD   
Structural Biology KnowledgeBase5BXB    5BXD   
SCOP (Structural Classification of Proteins)5BXB    5BXD   
CATH (Classification of proteins structures)5BXB    5BXD   
SuperfamilyQ719H9
Human Protein AtlasENSG00000134504
Peptide AtlasQ719H9
HPRD11059
IPIIPI00644763   IPI00174853   
Protein Interaction databases
DIP (DOE-UCLA)Q719H9
IntAct (EBI)Q719H9
FunCoupENSG00000134504
BioGRIDKCTD1
STRING (EMBL)KCTD1
ZODIACKCTD1
Ontologies - Pathways
QuickGOQ719H9
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  transcription corepressor activity  protein binding  nucleus  nucleoplasm  transcription, DNA-templated  transcription factor binding  identical protein binding  negative regulation of transcription, DNA-templated  protein homooligomerization  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  transcription corepressor activity  protein binding  nucleus  nucleoplasm  transcription, DNA-templated  transcription factor binding  identical protein binding  negative regulation of transcription, DNA-templated  protein homooligomerization  
NDEx NetworkKCTD1
Atlas of Cancer Signalling NetworkKCTD1
Wikipedia pathwaysKCTD1
Orthology - Evolution
OrthoDB284252
GeneTree (enSembl)ENSG00000134504
Phylogenetic Trees/Animal Genes : TreeFamKCTD1
HOVERGENQ719H9
HOGENOMQ719H9
Homologs : HomoloGeneKCTD1
Homology/Alignments : Family Browser (UCSC)KCTD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKCTD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KCTD1
dbVarKCTD1
ClinVarKCTD1
1000_GenomesKCTD1 
Exome Variant ServerKCTD1
ExAC (Exome Aggregation Consortium)KCTD1 (select the gene name)
Genetic variants : HAPMAP284252
Genomic Variants (DGV)KCTD1 [DGVbeta]
DECIPHERKCTD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKCTD1 
Mutations
ICGC Data PortalKCTD1 
TCGA Data PortalKCTD1 
Broad Tumor PortalKCTD1
OASIS PortalKCTD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKCTD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKCTD1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KCTD1
DgiDB (Drug Gene Interaction Database)KCTD1
DoCM (Curated mutations)KCTD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KCTD1 (select a term)
intoGenKCTD1
Cancer3DKCTD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM181270    613420   
Orphanet1962   
MedgenKCTD1
Genetic Testing Registry KCTD1
NextProtQ719H9 [Medical]
TSGene284252
GENETestsKCTD1
Target ValidationKCTD1
Huge Navigator KCTD1 [HugePedia]
snp3D : Map Gene to Disease284252
BioCentury BCIQKCTD1
ClinGenKCTD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD284252
Chemical/Pharm GKB GenePA30082
Clinical trialKCTD1
Miscellaneous
canSAR (ICR)KCTD1 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKCTD1
EVEXKCTD1
GoPubMedKCTD1
iHOPKCTD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:54:15 CEST 2017

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