Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KCTD1 Gene

protein-coding   GIFtS: 50
GCID: GC18M024034

Potassium Channel Tetramerization Domain Containing 1

(Previous name: potassium channel tetramerisation domain containing 1)
(Previous symbol: C18orf5)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Potassium Channel Tetramerization Domain Containing 11 2
C18orf51 2 3
Potassium Channel Tetramerisation Domain Containing 11 2
Potassium Channel Tetramerization Domain-Containing Protein 12 3
SENS2
BTB/POZ Domain-Containing Protein KCTD12

External Ids:    HGNC: 182491   Entrez Gene: 2842522   Ensembl: ENSG000001345047   OMIM: 6134205   UniProtKB: Q719H93   

Export aliases for KCTD1 gene to outside databases

Previous GC identifers: GC18U990074 GC18M022286 GC18M022288 GC18M020884


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for KCTD1 Gene: 
KCTD1 (potassium channel tetramerization domain containing 1) is a protein-coding gene. Diseases associated with KCTD1 include scalp ear nipple syndrome, and maturity-onset diabetes of the young, and among its related super-pathways are Melatonin Signaling and Activation of cAMP-Dependent PKA. GO annotations related to this gene include transcription corepressor activity and transcription factor binding. An important paralog of this gene is KCTD8.

UniProtKB/Swiss-Prot: KCTD1_HUMAN, Q719H9
Function: May repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to
various extent




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.2  NT_010966.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCTD1 gene promoter:
         E2F-4   E2F-3a   E2F   E2F-1   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KCTD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for KCTD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCTD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q11.2   Ensembl cytogenetic band:  18q11.2   HGNC cytogenetic band: 18q11.2

KCTD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCTD1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M024034:  view genomic region     (about GC identifiers)

Start:
24,034,874 bp from pter      End:
24,237,365 bp from pter
Size:
202,492 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KCTD1_HUMAN, Q719H9 (See protein sequence)
Recommended Name: BTB/POZ domain-containing protein KCTD1  
Size: 257 amino acids; 29405 Da
Subunit: Can form homodimers. Interacts with TFAP2A, TFAP2B and TFAP2C via the BTB domain
Subcellular location: Nucleus
Secondary accessions: A8K1F5

Explore the universe of human proteins at neXtProt for KCTD1: NX_Q719H9

Explore proteomics data for KCTD1 at MOPED 

Post-translational modifications:

  • UniProtKB: Sumoylated
  • View neXtProt modification sites for NX_Q719H9

  • KCTD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCTD1 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_001129677.1  NP_001136202.1  NP_001245150.1  NP_001245151.1  NP_945342.1  

    ENSEMBL proteins: 
     ENSP00000464170   ENSP00000384367   ENSP00000463041   ENSP00000464261   ENSP00000462470  
     ENSP00000463608   ENSP00000408405   ENSP00000314831  

    Human Recombinant Protein Products for KCTD1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for KCTD1
    OriGene Protein Over-expression Lysate for KCTD1
    OriGene MassSpec for KCTD1 
    OriGene Custom Protein Services for KCTD1
    GenScript Custom Purified and Recombinant Proteins Services for KCTD1
    Novus Biologicals KCTD1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KCTD1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19115315

    KCTD1 for ontologies           About GeneDecksing



    KCTD1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for KCTD1
    GenScript Custom Superior Antibodies Services for KCTD1
    Abcam antibodies for KCTD1
    Cloud-Clone Corp. Antibodies for KCTD1 
    ThermoFisher Antibodies for KCTD1
    LSBio Antibodies in human, mouse, rat for KCTD1 

    Assay Products for KCTD1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for KCTD1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for KCTD1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for KCTD1 
    Cloud-Clone Corp. CLIAs for KCTD1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR000210 BTB/POZ-like
     IPR011333 BTB/POZ_fold
     IPR003131 T1-type_BTB

    Graphical View of Domain Structure for InterPro Entry Q719H9

    ProtoNet protein and cluster: Q719H9

    UniProtKB/Swiss-Prot: KCTD1_HUMAN, Q719H9
    Similarity: Contains 1 BTB (POZ) domain


    KCTD1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCTD1_HUMAN, Q719H9
    Function: May repress the transcriptional activity of AP-2 family members, including TFAP2A, TFAP2B and TFAP2C to
    various extent

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003714transcription corepressor activity IDA19115315
    GO:0005515protein binding ----
    GO:0008134transcription factor binding IPI19115315
         
    KCTD1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KCTD1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KCTD1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KCTD1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KCTD1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KCTD1
    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate KCTD1 (see all 23):
    hsa-miR-3685 hsa-miR-3934 hsa-miR-1197 hsa-miR-15a hsa-miR-29c hsa-miR-29a hsa-miR-374c hsa-miR-511
    SwitchGear 3'UTR luciferase reporter plasmidKCTD1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for KCTD1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KCTD1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for KCTD1
    Sirion Biotech Customized adenovirus for overexpression of KCTD1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for KCTD1 (see all 19)
    OriGene ORF clones in mouse, rat for KCTD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KCTD1 (NM_020768)
    Sino Biological Human cDNA Clone for KCTD1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KCTD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KCTD1
    Sirion Biotech Customized lentivirus for stable overexpression of KCTD1 
                         Customized lentivirus expression plasmids for stable overexpression of KCTD1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for KCTD1
    Search LifeMap BioReagents cell lines for KCTD1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCTD1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KCTD1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Sweet Taste Signaling
    Sweet Taste Signaling0.72
    Bitter Taste Signaling0.44
    Melatonin Signaling0.72
    Sperm Motility0.37
    Cellular Effects of Sildenafil0.46
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    3Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Neuropathic Pain-Signaling in Dorsal Horn Neurons0.47
    Cholera Infection0.40
    Aldosterone Signaling in Epithelial Cells0.47
    4Hepatic ABC Transporters
    Hepatic ABC Transporters0.41
    MODY (Maturity-Onset Diabetes of Young)0.41

    5/13 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for KCTD1 (see all 13)
        Cholera Infection
    Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Hepatic ABC Transporters
    PKA Signaling
    Sweet Taste Signaling



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KCTD1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for KCTD1 (ENSP000004084054) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SUMO2ENSP000004059654STRING: ENSP00000405965
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0045892negative regulation of transcription, DNA-dependent IDA19115315
    GO:0051260protein homooligomerization IEA--

    KCTD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KCTD1

    Search CenterWatch for drugs/clinical trials and news about KCTD1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KCTD1 gene (5 alternative transcripts): 
    NM_001136205.2  NM_001142730.2  NM_001258221.1  NM_001258222.1  NM_198991.3  

    Unigene Cluster for KCTD1:

    Potassium channel tetramerisation domain containing 1
    Hs.526630  [show with all ESTs]
    Unigene Representative Sequence: NM_001142730
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000579973(uc010xbk.2) ENST00000408011(uc002kvw.3) ENST00000580059
    ENST00000577255(uc002kvy.3) ENST00000580191 ENST00000582494 ENST00000580638
    ENST00000578973 ENST00000584630 ENST00000417602(uc010xbj.2) ENST00000317932

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KCTD1
    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate KCTD1 (see all 23):
    hsa-miR-3685 hsa-miR-3934 hsa-miR-1197 hsa-miR-15a hsa-miR-29c hsa-miR-29a hsa-miR-374c hsa-miR-511
    SwitchGear 3'UTR luciferase reporter plasmidKCTD1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for KCTD1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KCTD1
    Clone
    Products:
         
    OriGene clones in human, mouse for KCTD1 (see all 19)
    OriGene ORF clones in mouse, rat for KCTD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KCTD1 (NM_020768)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KCTD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KCTD1
    Sirion Biotech Customized lentivirus for stable overexpression of KCTD1 
                         Customized lentivirus expression plasmids for stable overexpression of KCTD1 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for KCTD1
    OriGene qSTAR qPCR primer pairs in human, mouse for KCTD1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KCTD1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KCTD1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KCTD1

    Additional mRNA sequence: 

    AF542549.1 AK289870.1 BC042371.1 BC063652.1 

    9 DOTS entries:

    DT.97838075  DT.440974  DT.101980382  DT.100775314  DT.100812415  DT.100812413  DT.99953009  DT.409420 
    DT.95268967 

    24/122 AceView cDNA sequences (see all 122):

    CR604274 CB984664 BM713653 W74069 BU153387 BM821563 AI769180 AI985435 
    AI298222 AA447957 AI478478 BI757525 AA384799 W79380 BQ574512 BM701104 
    AW296378 BU527076 BQ129255 AW025414 BQ233593 BG697890 AA400768 BU726041 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for KCTD1 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b
    SP1:        -     -     -     -           -                 -                 -               
    SP2:                    -     -           -                 -                 -               
    SP3:                                                                          -               
    SP4:              -     -     -           -                                                   
    SP5:                                      -                                                   


    ECgene alternative splicing isoforms for KCTD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KCTD1 expression in normal human tissues (normalized intensities)      KCTD1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KCTD1 Expression
    About this image


    KCTD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Liver (Hepatobiliary System)
             Hematopoietic Stem Cells Liver Bud
     
     Blood (Cardiovascular System)
             Hematopoietic Stem Cells Liver Bud

    See KCTD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCTD1

    SOURCE GeneReport for Unigene cluster: Hs.526630

    UniProtKB/Swiss-Prot: KCTD1_HUMAN, Q719H9
    Tissue specificity: Expressed in mammary gland, kidney, brain and ovary

        SABiosciences Custom PCR Arrays for KCTD1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for KCTD1
    OriGene qSTAR qPCR primer pairs in human, mouse for KCTD1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KCTD1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KCTD1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KCTD1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCTD1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for KCTD1 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kctd11 , 5 potassium channel tetramerisation domain containing more1, 5 92.75(n)1
    97.91(a)1
      18 (8.28 cM)5
    1069311  NM_001142731.11  NP_001136203.11 
     149686855 
    chicken
    (Gallus gallus)
    Aves KCTD11 potassium channel tetramerisation domain containing more 85.77(n)
    91.81(a)
      421087  XM_001231830.2  XP_001231831.2 
    lizard
    (Anolis carolinensis)
    Reptilia KCTD16
    Uncharacterized protein
    86(a)
    1 ↔ 1
    4(36669709-36699528)
    zebrafish
    (Danio rerio)
    Actinopterygii kctd15b6
    potassium channel tetramerisation domain containin...
    80(a)
    1 ↔ 1
    20(18255812-18302230)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG104406
    --
    35(a)
    1 → many
    2R(17447751-17463540)


    ENSEMBL Gene Tree for KCTD1 (if available)
    TreeFam Gene Tree for KCTD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KCTD1 gene
    KCTD82  KCTD152  KCTD162  KCTD42  KCTD112  KCNRG2  KCTD122  KCTD212  
    KCTD62  KCTD142  
    6 SIMAP similar genes for KCTD1 using alignment to 5 protein entries:     KCTD1_HUMAN (see all proteins):
    KCTD15    KCTD21    KCTD6    KCTD17    KCTD19    SHKBP1

    KCTD1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for KCTD1
    PGOHUM00000263241


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3941 SNPs in KCTD1 are shown (see all 3941)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1146585451,2
    C--20884375(+) TATCAC/TAGGCC 4 -- int10--------
    rs1493348581,2
    --20884494(+) ACCAAG/TGCAGA 4 -- int10--------
    rs1916695231,2
    --20884515(+) ACAGGA/GAATAA 4 -- int10--------
    rs177998491,2
    C,F,H--20884530(+) TGCTGG/AGTCGG 4 -- int132Minor allele frequency- A:0.21NA EA NS CSA WA 3404
    rs1445797001,2
    --20884533(+) TGGGTC/TGGAAG 4 -- int10--------
    rs1835368941,2
    --20884541(+) AAGACA/GACTGT 4 -- int10--------
    rs1881164821,2
    --20884592(+) GACTTC/GAAAAC 4 -- int10--------
    rs1484565491,2
    --20884604(+) GACCCC/TGGCTT 4 -- int10--------
    rs1406288311,2
    C--20884678(+) CCTCA-/CCCCCC 4 -- ut310--------
    rs2013920221,2
    C--20884843(+) TAAAA-/AAAGT 
            
    AAGTA
    4 -- ut310--------

    HapMap Linkage Disequilibrium report for KCTD1 (24034874 - 24237365 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for KCTD1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2669356CNV Deletion23128226
    esv2119422CNV Deletion18987734
    esv1276406CNV Deletion17803354
    esv2716885CNV Deletion23290073
    esv2716886CNV Deletion23290073
    esv2716887CNV Deletion23290073
    esv1006523CNV Deletion20482838
    esv3380CNV Deletion18987735
    nsv2235CNV Loss18451855


    Human Gene Mutation Database (HGMD): KCTD1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KCTD1
    DNA2.0 Custom Variant and Variant Library Synthesis for KCTD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613420    OMIM disorders: --

    5 diseases for KCTD1:    About MalaCards
    scalp ear nipple syndrome    maturity-onset diabetes of the young    cholera    hepatitis
    neuronitis


    KCTD1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KCTD1
    Human Genome Epidemiology (HuGE) Navigator: KCTD1 (1 document)

    Export disorders for KCTD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KCTD1 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with KCTD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. GWAS for discovery and replication of genetic loci as sociated with sudden cardiac arrest in patients with coronary artery disease. (PubMed id 21658281)1, 4 Aouizerat B.E....Tseng Z.H. (2011)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. The interaction of KCTD1 with transcription factor AP-2alpha inhibits its transactivation. (PubMed id 19115315)1, 2 Ding X....Zhang J. (2009)
    4. Systematic identification and analysis of mammalian small ubiquitin- like modifier substrates. (PubMed id 15561718)1, 2 Gocke C.B.... Kang J. (2005)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Mutations in KCTD1 cause scalp-ear-nipple syndrome. (PubMed id 23541344)1 Marneros A.G....Bamshad M.J. (2013)
    7. Comparative proteomic analysis identifies a role for S UMO in protein quality control. (PubMed id 21693764)1 Tatham M.H....Hay R.T. (2011)
    8. System-wide changes to SUMO modifications in response to heat shock. (PubMed id 19471022)1 Golebiowski F....Hay R.T. (2009)
    9. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    10. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 284252 HGNC: 18249 AceView: KCTD1 Ensembl:ENSG00000134504 euGenes: HUgn284252
    ECgene: KCTD1 H-InvDB: KCTD1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KCTD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KCTD1 gene:
    Search GeneIP for patents involving KCTD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for KCTD1  
     OriGene qPCR primer pairs and template standards for KCTD1   OriGene Protein Over-expression Lysate for KCTD1  
     OriGene MassSpec something-or-other for KCTD1   OriGene clones in human, mouse for KCTD1  
     OriGene qSTAR qPCR primer pairs in human, mouse for KCTD1   OriGene Purified Protein for KCTD1  
     OriGene ORF clones in mouse, rat for KCTD1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for KCTD1   OriGene Custom Protein Services for KCTD1  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KCTD1
     QIAGEN SeqTarget long-range PCR primers for resequencing KCTD1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCTD1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KCTD1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KCTD1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KCTD1
     GenScript Custom Purified and Recombinant Proteins Services for KCTD1 GenScript cDNA clones with any tag delivered in your preferred vector for KCTD1
     GenScript Custom Assay Services for KCTD1 GenScript Custom Superior Antibodies Services for KCTD1
     GenScript Custom overexpressing Cell Line Services for KCTD1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in KCTD1 promoter
     Search Chromatin IP Primers for KCTD1
     RT2 qPCR Primer Assay in human, mouse, rat KCTD1
     Search GNC Networks for KCTD1
     SABiosciences PCR Arrays including human, mouse, rat KCTD1
     Search Tocris compounds for KCTD1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     cDNA Clones for KCTD1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     KCTD1 lysates
     Antibodies for KCTD1
     See all of Abcam's Antibodies, Kits and Proteins for KCTD1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for KCTD1
     Antibodies for KCTD1
     ELISAs for KCTD1
     CLIAs for KCTD1
     Search LifeMap BioReagents cell lines for KCTD1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCTD1
     SwitchGear 3'UTR luciferase reporter plasmids for KCTD1
     SwitchGear Promoter luciferase reporter plasmids for KCTD1
     ThermoFisher Antibodies for KCTD1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KCTD1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for KCTD1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KCTD1
    Customized:
     lentivirus for stable overexpression of KCTD1
     lentivirus expression plasmids for stable overexpression of KCTD1
     adenovirus for overexpression of KCTD1
     LSBio Antibodies in human, mouse, rat for KCTD1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      KCTD1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4