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

Gene ID: 147040, updated on 2-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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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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