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    KCTD11 potassium channel tetramerization domain containing 11 [ Homo sapiens (human) ]

    Gene ID: 147040, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KCTD11provided by HGNC
    Official Full Name
    potassium channel tetramerization domain containing 11provided by HGNC
    Primary source
    HGNC:HGNC:21302
    See related
    Ensembl:ENSG00000213859 MIM:609848; AllianceGenome:HGNC:21302
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    REN; KCASH1; C17orf36; REN/KCTD11
    Summary
    Enables identical protein binding activity. Predicted to be involved in positive regulation of neuron differentiation. Predicted to act upstream of or within negative regulation of neuroblast proliferation; negative regulation of smoothened signaling pathway; and nervous system development. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
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    Genomic context

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    See KCTD11 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7352162..7354944)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7256147..7258935)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7255481..7258263)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene neuralized E3 ubiquitin protein ligase 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7226660-7227166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7227167-7227672 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7231927-7232586 Neighboring gene Sharpr-MPRA regulatory region 1992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11614 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11615 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7239291-7240052 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7240053-7240814 Neighboring gene ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8110 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8111 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8113 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7258016-7258542 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7258543-7259069 Neighboring gene transmembrane protein 95 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:7269638-7269860 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7283926-7284426 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8114 Neighboring gene TMEM256-PLSCR3 readthrough (NMD candidate) Neighboring gene tyrosine kinase non receptor 1 Neighboring gene phospholipid scramblase 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. KCTD11 tumor suppressor gene expression is reduced in prostate adenocarcinoma. Zazzeroni F, et al. Biomed Res Int, 2014. PMID 25045667, Free PMC Article
    2. KCTD11 inhibits progression of lung cancer by binding to β-catenin to regulate the activity of the Wnt and Hippo pathways. Yang M, et al. J Cell Mol Med, 2021 Oct. PMID 34453479, Free PMC Article
    3. The tumor suppressor gene KCTD11REN is regulated by Sp1 and methylation and its expression is reduced in tumors. Mancarelli MM, et al. Mol Cancer, 2010 Jun 30. PMID 20591193, Free PMC Article
    4. Molecular organization of the cullin E3 ligase adaptor KCTD11. Correale S, et al. Biochimie, 2011 Apr. PMID 21237243
    5. REN: a novel, developmentally regulated gene that promotes neural cell differentiation. Gallo R, et al. J Cell Biol, 2002 Aug 19. PMID 12186855, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SALL4 is a CRL3[REN/KCTD11] substrate that drives Sonic Hedgehog-dependent medulloblastoma.
      Title: SALL4 is a CRL3(REN/KCTD11) substrate that drives Sonic Hedgehog-dependent medulloblastoma.
    2. KCTD11 inhibits progression of lung cancer by binding to beta-catenin to regulate the activity of the Wnt and Hippo pathways.
      Title: KCTD11 inhibits progression of lung cancer by binding to β-catenin to regulate the activity of the Wnt and Hippo pathways.
    3. Our study demonstrates and supports that KCTD11, as well as negatively regulated downstream effectors belonging to Hh signaling, plays a role in prostate cancer pathogenesis.
      Title: KCTD11 tumor suppressor gene expression is reduced in prostate adenocarcinoma.
    4. the protein is expressed in two alternative variants: a short previously characterized form (sKCTD11) composed by 232 amino acids and a longer variant (lKCTD11) which contains an N-terminal extension of 39 residues.
      Title: Molecular organization of the cullin E3 ligase adaptor KCTD11.
    5. findings identify KCTD11 as a widely down-regulated gene in human cancers, and provide a basis to understand how its expression might be deregulated in tumor cells
      Title: The tumor suppressor gene KCTD11REN is regulated by Sp1 and methylation and its expression is reduced in tumors.
    6. Results identify REN(KCTD11) as a suppressor of Hedgehog signaling and suggest that its inactivation might lead to a deregulation of the tumor-promoting Hedgehog pathway in medulloblastoma.
      Title: REN(KCTD11) is a suppressor of Hedgehog signaling and is deleted in human medulloblastoma.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC129844

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    BTB/POZ domain-containing protein KCTD11
    Names
    RING-type E3 ubiquitin transferase subunit KCTD11
    potassium channel tetramerization domain-containing protein 11
    retinoic acid, EGF, NGF induced gene protein
    NP_001002914.1
    NP_001350571.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001002914.3 → NP_001002914.1  BTB/POZ domain-containing protein KCTD11 isoform s

      See identical proteins and their annotated locations for NP_001002914.1

      Status: VALIDATED

      Source sequence(s)
      AY646650, BC019929
      Consensus CDS
      CCDS32545.1
      UniProtKB/Swiss-Prot
      B3KPE0, Q693B1
      UniProtKB/TrEMBL
      A0A158RFT7, A0A2U3TZI5
      Related
      ENSP00000495203.1, ENST00000576980.2
      Conserved Domains (1) summary
      cl38908
      Location:1 → 65
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

    2. NM_001363642.1 → NP_001350571.1  BTB/POZ domain-containing protein KCTD11 isoform l

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1b) initiates translation at an upstream AUU alternate start codon and encodes an isoform (l) with a longer N-terminus compared to isoform s. This isoform is suggested by experimental data in PMID:21237243.
      Source sequence(s)
      AC026954
      Consensus CDS
      CCDS92247.1
      UniProtKB/TrEMBL
      A0A2U3TZI5
      Related
      ENSP00000328352.5, ENST00000333751.8
      Conserved Domains (1) summary
      cl02518
      Location:17 → 109
      BTB; BTB/POZ domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      7352162..7354944
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160020.1 Reference GRCh38.p14 PATCHES

      Range
      110527..113309
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      7256147..7258935
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q693B1.1 GenPept UniProtKB/Swiss-Prot:Q693B1

    Gene LinkOut

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