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KCTD1 Gene

protein-coding   GIFtS: 51
GCID: GC18M024034

Potassium Channel Tetramerization Domain Containing 1

(Previous name: potassium channel tetramerisation domain containing 1)
(Previous symbol: C18orf5)
  See KCTD1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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 5
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000018.10  NT_010966.15  NC_018929.2  
Regulatory elements:
   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 Chromatin IP Primers for KCTD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • Sumoylated1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KCTD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    KCTD1 Human Recombinant Protein Products:

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    Novus Biologicals KCTD1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KCTD1

     
    Search eBioscience for Proteins for KCTD1 

    KCTD1 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for KCTD1

    KCTD1 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with KCTD1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003714transcription corepressor activity IDA19115315
    GO:0005515protein binding ----
    GO:0008134transcription factor binding IPI19115315
         
    Find genes that share ontologies with KCTD1           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCTD1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:
        
    miRTarBase miRNAs that target KCTD1:
    hsa-let-7a-5p (MIRT052617), hsa-mir-196a-5p (MIRT048196)

    Block miRNA regulation of human, mouse, rat KCTD1 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for KCTD1
    Predesigned siRNA for gene silencing in human, mouse, rat KCTD1

    Gene Editing
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    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

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for KCTD1
    Browse ESI BIO Cell Lines and PureStem Progenitors for KCTD1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCTD1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KCTD1_HUMAN, Q719H9: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19115315

    Find genes that share ontologies with KCTD1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    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

    Selected Downloadable PowerPoint Slides of GeneGlobe 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



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KCTD1
    Interactions:

        Search GeneGlobe Interaction Network 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:    About this table

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

    Find genes that share ontologies with KCTD1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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:
         
    Block miRNA regulation of human, mouse, rat KCTD1 using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for KCTD1
    Predesigned 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
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for KCTD1
    OriGene qSTAR qPCR primer pairs in human, mouse for KCTD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KCTD1
      QuantiTect SYBR Green Assays in human, mouse, rat KCTD1
      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 

    Selected AceView cDNA sequences (see all 122):

    BU527076 BQ129255 AA384799 BG697890 W79380 AI478478 BM821563 AI241933 
    AA400768 BQ233593 BM713653 CR604274 AA447957 AW296378 BU153387 CB984664 
    BI757525 AI298222 BM701104 BU726041 AI769180 AI985435 W74069 AW025414 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KCTD1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 5) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Liver (Hepatobiliary System)
             Hematopoietic Stem Cells Liver Bud
     
     Blood (Cardiovascular System)
             Hematopoietic Stem Cells Liver Bud
     
     Neural Tube (Nervous System)
             Metencephalon
    KCTD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCTD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.526630

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

        Custom PCR Arrays for KCTD1
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    QuantiTect SYBR Green Assays in human, mouse, rat KCTD1
    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for KCTD1 gene from Selected species (see all 14)    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 92.09(n)1
    96.86(a)1
      18 (8.28 cM)5
    1069311  NM_001142731.11  NP_001136203.11 
     149686855 
    chicken
    (Gallus gallus)
    Aves LOC1017486691 uncharacterized LOC101748669 86.17(n)
    90.46(a)
      101748669  XM_004939810.1  XP_004939867.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCTD16
    potassium channel tetramerization domain containin...
    86(a)
    1 ↔ 1
    4(36669709-36699528)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kctd11 potassium channel tetramerisation domain containing more 80.16(n)
    95.33(a)
      100486970  XM_004915207.1  XP_004915264.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kctd11 potassium channel tetramerisation domain containing more 70.6(n)
    82.89(a)
      555637  XM_005160473.1  XP_005160530.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG104406
    --
    36(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)
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    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

    Find genes that share paralogs with KCTD1           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KCTD1 (see all 3949)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0699774
    Scalp-ear-nipple syndrome (SENS)4--see VAR_0699772 G D mis40--------
    VAR_0699734
    Scalp-ear-nipple syndrome (SENS)4--see VAR_0699732 P R mis40--------
    VAR_0699784
    Scalp-ear-nipple syndrome (SENS)4--see VAR_0699782 H P mis40--------
    VAR_0699744
    Scalp-ear-nipple syndrome (SENS)4--see VAR_0699742 P S mis40--------
    VAR_0699754
    Scalp-ear-nipple syndrome (SENS)4--see VAR_0699752 H P mis40--------
    VAR_0699714
    Scalp-ear-nipple syndrome (SENS)4--see VAR_0699712 A E mis40--------
    VAR_0699724
    Scalp-ear-nipple syndrome (SENS)4--see VAR_0699722 P L mis40--------
    VAR_0699764
    Scalp-ear-nipple syndrome (SENS)4--see VAR_0699762 H Q mis40--------
    rs1146585451,2
    C--20884375(+) TATCAC/TAGGCC 4 -- int10--------
    rs1493348581,2
    --20884494(+) ACCAAG/TGCAGA 4 -- int10--------

    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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613420   
    OMIM disorders: 181270  
    UniProtKB/Swiss-Prot: KCTD1_HUMAN, Q719H9
  • Scalp-ear-nipple syndrome (SENS) [MIM:181270]: A disease characterized by aplasia cutis congenita of the
    scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external
    ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of
    the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable
    expressivity within families. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 1 disease for KCTD1:    
    About MalaCards
    scalp ear nipple syndrome


    Find genes that share disorders with KCTD1           About GenesLikeMe

    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)
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    PubMed articles for KCTD1 gene, integrated from 10 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. Mutations in KCTD1 cause scalp-ear-nipple syndrome. (PubMed id 23541344)1, 2 Marneros A.G....Bamshad M.J. (Am. J. Hum. Genet. 2013)
    2. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PubMed id 21658281)1, 4 Aouizerat B.E....Tseng Z.H. (BMC Cardiovasc Disord 2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. The interaction of KCTD1 with transcription factor AP-2alpha inhibits its transactivation. (PubMed id 19115315)1, 2 Ding X.... Zhang J. (J. Cell. Biochem. 2009)
    5. Systematic identification and analysis of mammalian small ubiquitin- like modifier substrates. (PubMed id 15561718)1, 2 Gocke C.B.... Kang J. (J. Biol. Chem. 2005)
    6. 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. (Genome Res. 2004)
    7. Comparative proteomic analysis identifies a role for SUMO in protein quality control. (PubMed id 21693764)1 Tatham M.H....Hay R.T. (Sci Signal 2011)
    8. System-wide changes to SUMO modifications in response to heat shock. (PubMed id 19471022)1 Golebiowski F....Hay R.T. (Sci Signal 2009)
    9. Characterization and expression of a human KCTD1 gene containing the BTB domain, which mediates transcriptional repression and homomeric interactions. (PubMed id 18358072)2 Ding X.F.... Zhang J. (DNA Cell Biol. 2008)
    10. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 284252 HGNC: 18249 AceView: KCTD1 Ensembl:ENSG00000134504 euGenes: HUgn284252
    ECgene: KCTD1 H-InvDB: KCTD1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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

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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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