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

KCTD1 Gene

protein-coding   GIFtS: 45
GCID: GC18M024034

potassium channel tetramerisation domain containing 1


(Previous symbol: C18orf5)
  Search for KCTD1
in our new
 Human Malady Compendium 
Biological research products
for KCTD1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Potassium Channel Tetramerisation Domain Containing 11 2
C18orf51 2 3
Potassium Channel Tetramerization Domain-Containing Protein 12 3
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

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  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 chromosome: 18

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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • Sumoylated1
  • View neXtProt modification sites for NX_Q719H9

  • KCTD1 Protein expression data from MOPED and PaxDb:    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  

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    Uscn 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



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    KCTD1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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): 2 molecular function terms (GO ID links to tree view):    About this table

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


    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for KCTD1 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidKCTD1 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    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, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Sweet Taste Signaling
    Sweet Taste Signaling1.00
    Bitter Taste Signaling0.44
    Melatonin Signaling0.72
    Sperm Motility0.36
    Cellular Effects of Sildenafil0.46
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA1.00
    PKA Signaling0.56
    cAMP Pathway0.77
    3Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Neuropathic Pain-Signaling in Dorsal Horn Neurons1.00
    Cholera Infection0.40
    Aldosterone Signaling in Epithelial Cells0.47
    4Hepatic ABC Transporters
    Hepatic ABC Transporters1.00
    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, 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 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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
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    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
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    Additional cDNA 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):

    AW025414 BQ233593 AA447957 BU527076 BU726041 AW296378 AI241933 BQ574512 
    AA400768 BG697890 AI769180 BM701104 BQ129255 AA384799 CR604274 AI985435 
    BM821563 BM713653 W74069 CB984664 W79380 AI478478 BU153387 AI298222 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    KCTD1 Expression
    About this image

    KCTD1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeInterscapular Brown Adipose DepotAdipose
    Neural TubeMetencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)

    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
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    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 4/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    89(a)
    1 ↔ 1
    4(36669709-36695012)
    zebrafish
    (Danio rerio)
    Actinopterygii kctd16
    potassium channel tetramerisation domain containin...
    80(a)
    1 ↔ 1
    20(18255812-18302230)
    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)
    About This Section
    Paralogs for KCTD1 gene
    KCTD152  KCTD82  KCTD162  KCTD42  KCNRG2  KCTD112  KCTD122  KCTD212  
    KCTD62  KCTD142  
    5 SIMAP similar genes for KCTD1 using alignment to 5 protein entries:     KCTD1_HUMAN (see all proteins):
    KCTD15    KCTD21    KCTD6    KCTD17    KCTD19

    KCTD1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for KCTD1
    PGOHUM00000263241


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1591 NCBI SNPs in KCTD1 are shown (see all 1591    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs177998491,2
    C,F,H--20884530(+) TGCTGG/AGTCGG 4 -- int132Minor allele frequency- A:0.21NA EA NS CSA WA 3404
    rs80850801,2
    H--20885023(+) AGGTGT/GTTTGT 4 -- ut314Minor allele frequency- G:0.00NS EA 410
    rs768433701,2
    C--20885044(+) TTTTTA/TAAAAA 4 -- ut310--------
    rs1121138661,2
    C--20885056(+) AAGGAG/AAAAGA 4 -- ut311Minor allele frequency- A:0.50CSA 2
    rs5090461,2
    H--20885341(-) TATCCA/CATAGA 4 -- ut31 ese34Minor allele frequency- C:0.00NS EA 420
    rs713769611,2
    --20885675(+) AGGTAAGTC    
       CTA
    /-
    TGGCT
    4 -- int11Minor allele frequency- -:0.50NA 2
    rs176620011,2
    C,F,H--20886817(+) CAAAAC/TAGCTT 4 -- int120Minor allele frequency- T:0.07NA NS EA CSA WA 2472
    rs72356931,2
    C,F,H--20887010(+) GGAAGA/CAAACA 4 -- int1 trp314Minor allele frequency- C:0.06NA NS EA WA 1446
    rs793603191,2
    F--20887422(+) GGAAAC/TAACAA 4 -- int11Minor allele frequency- T:0.02NA 120
    rs118764201,2
    C,H--20887474(+) ACTTAG/CTGAGG 4 -- int14Minor allele frequency- C:0.00NS EA 420

    HapMap Linkage Disequilibrium report for KCTD1 (24034874 - 24237365 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for KCTD1
         1 Indel: 41286

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    (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.)
    About This Section

    KCTD1 for disorders           About MalaCards

    KCTD1 for disorders           About GeneDecksing

    OMIM gene information: 613420    OMIM disorders: --

    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 16):
    (articles sorted by number of sources associating them with KCTD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The interaction of KCTD1 with transcription factor AP-2alpha inhibits its transactivation. (PubMed id 19115315)1, 2 Ding X....Zhang J. (2009)
    2. Systematic identification and analysis of mammalian small ubiquitin- like modifier substrates. (PubMed id 15561718)1, 2 Gocke C.B.... Kang J. (2005)
    3. 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)
    4. GWAS for discovery and replication of genetic loci as sociated with sudden cardiac arrest in patients with coronary artery disease. (PubMed id 21658281)1 Aouizerat B.E....Tseng Z.H. (2011)
    5. Comparative proteomic analysis identifies a role for S UMO in protein quality control. (PubMed id 21693764)1 Tatham M.H....Hay R.T. (2011)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    7. System-wide changes to SUMO modifications in response to heat shock. (PubMed id 19471022)1 Golebiowski F....Hay R.T. (2009)
    8. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    9. 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)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (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



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