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KCTD6 potassium channel tetramerization domain containing 6 [ Homo sapiens (human) ]

Gene ID: 200845, updated on 10-Dec-2024

Summary

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Official Symbol
KCTD6provided by HGNC
Official Full Name
potassium channel tetramerization domain containing 6provided by HGNC
Primary source
HGNC:HGNC:22235
See related
Ensembl:ENSG00000168301 MIM:618791; AllianceGenome:HGNC:22235
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
KCASH3
Summary
Enables ankyrin binding activity; cullin family protein binding activity; and identical protein binding activity. Involved in negative regulation of smoothened signaling pathway and ubiquitin-dependent protein catabolic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Dec 2024]
Expression
Ubiquitous expression in brain (RPKM 6.8), endometrium (RPKM 3.6) and 25 other tissues See more
Orthologs
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Genomic context

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See KCTD6 in Genome Data Viewer
Location:
3p14.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (58492096..58502360)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (58532473..58542739)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (58477823..58488087)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene PX domain containing serine/threonine kinase like Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:58383233-58383732 Neighboring gene WDR53 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20012 Neighboring gene uncharacterized LOC107986092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14489 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58420577-58421186 Neighboring gene pyruvate dehydrogenase E1 subunit beta Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58506479-58506996 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58512267-58512782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58516141-58516641 Neighboring gene ribosomal protein L27 pseudogene 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:58517009-58517510 Neighboring gene acyl-CoA oxidase 2 Neighboring gene uncharacterized LOC107984079 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58546021-58547021 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58547022-58547522 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58547523-58548023 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58548024-58549024 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58551424-58551948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:58551949-58552472 Neighboring gene family with sequence similarity 107 member A

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Thermal and chemical stability of two homologous POZ/BTB domains of KCTD proteins characterized by a different oligomeric organization. Pirone L, et al. Biomed Res Int, 2013. PMID 24307990, Free PMC Article
  2. Cullin 3 Recognition Is Not a Universal Property among KCTD Proteins. Smaldone G, et al. PLoS One, 2015. PMID 25974686, Free PMC Article
  3. Identification and characterization of KCASH2 and KCASH3, 2 novel Cullin3 adaptors suppressing histone deacetylase and Hedgehog activity in medulloblastoma. De Smaele E, et al. Neoplasia, 2011 Apr. PMID 21472142, Free PMC Article
  4. Obscurin and KCTD6 regulate cullin-dependent small ankyrin-1 (sAnk1.5) protein turnover. Lange S, et al. Mol Biol Cell, 2012 Jul. PMID 22573887, Free PMC Article
  5. Structural Insights into KCTD Protein Assembly and Cullin3 Recognition. Ji AX, et al. J Mol Biol, 2016 Jan 16. PMID 26334369

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A biophysical characterization of the POZ/BTB of KCTD6, is reported.
    Title: Thermal and chemical stability of two homologous POZ/BTB domains of KCTD proteins characterized by a different oligomeric organization.
  2. Obscurin and KCTD6 regulate cullin-dependent small ankyrin-1 (sAnk1.5) protein turnover
    Title: Obscurin and KCTD6 regulate cullin-dependent small ankyrin-1 (sAnk1.5) protein turnover.
  3. Rescuing KCASHs expression reduces the Hedgehog-dependent medulloblastoma growth, suggesting that loss of members of this novel family of native HDAC inhibitors is crucial in sustaining Hh pathway-mediated tumorigenesis.
    Title: Identification and characterization of KCASH2 and KCASH3, 2 novel Cullin3 adaptors suppressing histone deacetylase and Hedgehog activity in 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)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC27385

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ankyrin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables cullin family protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cullin family protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of smoothened signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein homooligomerization IEA
Inferred from Electronic Annotation
more info
  
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
involved_in ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in M band IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
BTB/POZ domain-containing protein KCTD6
Names
potassium channel tetramerisation domain containing 6
potassium channel tetramerization domain-containing protein 6

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_001128214.2 → NP_001121686.1  BTB/POZ domain-containing protein KCTD6

    See identical proteins and their annotated locations for NP_001121686.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AA721100, BC022893, DA359951
    Consensus CDS
    CCDS2891.1
    UniProtKB/Swiss-Prot
    B3KNI5, Q8NBS6, Q8NC69, Q8TCA6
    Related
    ENSP00000384948.3, ENST00000404589.8
    Conserved Domains (1) summary
    cd18394
    Location:10 → 113
    BTB_POZ_KCTD6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 6 (KCTD6)

  2. NM_153331.3 → NP_699162.3  BTB/POZ domain-containing protein KCTD6

    See identical proteins and their annotated locations for NP_699162.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AA721100, AK074934, BC022893
    Consensus CDS
    CCDS2891.1
    UniProtKB/Swiss-Prot
    B3KNI5, Q8NBS6, Q8NC69, Q8TCA6
    Related
    ENSP00000347188.6, ENST00000355076.6
    Conserved Domains (1) summary
    cd18394
    Location:10 → 113
    BTB_POZ_KCTD6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 6 (KCTD6)

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    58492096..58502360
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264937.3 → XP_005264994.1  BTB/POZ domain-containing protein KCTD6 isoform X1

    See identical proteins and their annotated locations for XP_005264994.1

    UniProtKB/Swiss-Prot
    B3KNI5, Q8NBS6, Q8NC69, Q8TCA6
    Conserved Domains (1) summary
    cd18394
    Location:10 → 113
    BTB_POZ_KCTD6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 6 (KCTD6)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    58532473..58542739
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345617.1 → XP_054201592.1  BTB/POZ domain-containing protein KCTD6 isoform X1

    UniProtKB/Swiss-Prot
    B3KNI5, Q8NBS6, Q8NC69, Q8TCA6
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NC69.2 GenPept UniProtKB/Swiss-Prot:Q8NC69

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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