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    KCTD17 potassium channel tetramerization domain containing 17 [ Homo sapiens (human) ]

    Gene ID: 79734, updated on 3-Nov-2024

    Summary

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    Official Symbol
    KCTD17provided by HGNC
    Official Full Name
    potassium channel tetramerization domain containing 17provided by HGNC
    Primary source
    HGNC:HGNC:25705
    See related
    Ensembl:ENSG00000100379 MIM:616386; AllianceGenome:HGNC:25705
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a protein that belongs to a conserved family of potassium channel tetramerization domain (KCTD)-containing proteins. The encoded protein functions in ciliogenesis by acting as a substrate adaptor for the cullin3-based ubiquitin-conjugating enzyme E3 ligase, and targets trichoplein, a keratin-binding protein, for degradation via polyubiquitinylation. A mutation in this gene is associated with autosomal dominant myoclonic dystonia 26. [provided by RefSeq, Nov 2016]
    Expression
    Broad expression in brain (RPKM 11.5), testis (RPKM 10.6) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KCTD17 in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (37051742..37063390)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (37511340..37522988)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37447782..37459430)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13676 Neighboring gene thiosulfate sulfurtransferase Neighboring gene uncharacterized LOC112268295 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37428845-37429362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37429455-37430120 Neighboring gene mercaptopyruvate sulfurtransferase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37439765-37440678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13677 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37447950-37448667 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37448668-37449384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37456737-37457594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37457595-37458452 Neighboring gene RN7SK pseudogene 214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37459305-37460128 Neighboring gene transmembrane serine protease 6 Neighboring gene uncharacterized LOC124905113 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37473809-37474310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37476421-37477401 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:37483940-37485139 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37494011-37494516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37503983-37504484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18943 Neighboring gene interleukin 2 receptor subunit beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18944 Neighboring gene IL2RB promoter Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18946 Neighboring gene IL2RB LTR promoter

    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 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. A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. Mencacci NE, et al. Am J Hum Genet, 2015 Jun 4. PMID 25983243, Free PMC Article
    2. Structural complexity in the KCTD family of Cullin3-dependent E3 ubiquitin ligases. Pinkas DM, et al. Biochem J, 2017 Nov 1. PMID 28963344, Free PMC Article
    3. Structural Insights into KCTD Protein Assembly and Cullin3 Recognition. Ji AX, et al. J Mol Biol, 2016 Jan 16. PMID 26334369
    4. Ubiquitin-proteasome system controls ciliogenesis at the initial step of axoneme extension. Kasahara K, et al. Nat Commun, 2014 Oct 1. PMID 25270598, Free PMC Article
    5. Human Multisubunit E3 Ubiquitin Ligase Required for Heterotrimeric G-Protein β-Subunit Ubiquitination and Downstream Signaling. Young BD, et al. J Proteome Res, 2021 Sep 3. PMID 34342229

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
      Title: A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
    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

    Associated conditions

    Description Tests
    Myoclonic dystonia 26
    MedGen: C4225341 OMIM: 616398 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Seventy-five genetic loci influencing the human red blood cell.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12242, FLJ98761

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cullin family protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cullin family protein binding IPI
    Inferred from Physical Interaction
    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 
    enables ubiquitin-like ligase-substrate adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endoplasmic reticulum calcium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Cul3-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    BTB/POZ domain-containing protein KCTD17

    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.

    Genomic

    1. NG_052003.1 RefSeqGene

      Range
      5007..16655
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282684.2 → NP_001269613.2  BTB/POZ domain-containing protein KCTD17 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL022314
      Consensus CDS
      CCDS74854.2
      UniProtKB/Swiss-Prot
      B0QYA9, B0QYB0, O95517, Q8N5Z5
      Related
      ENSP00000385096.4, ENST00000403888.8
      Conserved Domains (1) summary
      cd18391
      Location:24 → 124
      BTB_POZ_KCTD17; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 17 (KCTD17)

    2. NM_001282685.2 → NP_001269614.2  BTB/POZ domain-containing protein KCTD17 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL022314
      UniProtKB/TrEMBL
      H0Y731
      Related
      ENSP00000409638.1, ENST00000456470.1
      Conserved Domains (1) summary
      cl38908
      Location:24 → 124
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

    3. NM_001282686.2 → NP_001269615.2  BTB/POZ domain-containing protein KCTD17 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks three alternate exons in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. It encodes isoform 4, which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL022314
      Consensus CDS
      CCDS74855.2
      UniProtKB/TrEMBL
      A0A087WX35
      Related
      ENSP00000480699.2, ENST00000610767.5
      Conserved Domains (1) summary
      cl38908
      Location:24 → 124
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

    4. NM_024681.4 → NP_078957.3  BTB/POZ domain-containing protein KCTD17 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter, compared to isoform 1.
      Source sequence(s)
      AL022314
      Consensus CDS
      CCDS13940.3
      Related
      ENSP00000384391.4, ENST00000402077.8
      Conserved Domains (1) summary
      cl38908
      Location:24 → 124
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      37051742..37063390
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005261744.3 → XP_005261801.2  BTB/POZ domain-containing protein KCTD17 isoform X6

    2. XM_011530374.3 → XP_011528676.2  BTB/POZ domain-containing protein KCTD17 isoform X1

    3. XM_005261742.4 → XP_005261799.3  BTB/POZ domain-containing protein KCTD17 isoform X4

    4. XM_005261743.4 → XP_005261800.3  BTB/POZ domain-containing protein KCTD17 isoform X5

    5. XM_047441492.1 → XP_047297448.1  BTB/POZ domain-containing protein KCTD17 isoform X3

    6. XM_047441494.1 → XP_047297450.1  BTB/POZ domain-containing protein KCTD17 isoform X8

    7. XM_047441495.1 → XP_047297451.1  BTB/POZ domain-containing protein KCTD17 isoform X9

    8. XM_047441493.1 → XP_047297449.1  BTB/POZ domain-containing protein KCTD17 isoform X7

    9. XM_047441491.1 → XP_047297447.1  BTB/POZ domain-containing protein KCTD17 isoform X2

    RNA

    1. XR_937917.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      37511340..37522988
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325916.1 → XP_054181891.1  BTB/POZ domain-containing protein KCTD17 isoform X6

    2. XM_054325911.1 → XP_054181886.1  BTB/POZ domain-containing protein KCTD17 isoform X1

    3. XM_054325914.1 → XP_054181889.1  BTB/POZ domain-containing protein KCTD17 isoform X4

    4. XM_054325915.1 → XP_054181890.1  BTB/POZ domain-containing protein KCTD17 isoform X5

    5. XM_054325913.1 → XP_054181888.1  BTB/POZ domain-containing protein KCTD17 isoform X3

    6. XM_054325918.1 → XP_054181893.1  BTB/POZ domain-containing protein KCTD17 isoform X8

    7. XM_054325919.1 → XP_054181894.1  BTB/POZ domain-containing protein KCTD17 isoform X9

    8. XM_054325917.1 → XP_054181892.1  BTB/POZ domain-containing protein KCTD17 isoform X7

    9. XM_054325912.1 → XP_054181887.1  BTB/POZ domain-containing protein KCTD17 isoform X2

    RNA

    1. XR_008485413.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N5Z5.4 GenPept UniProtKB/Swiss-Prot:Q8N5Z5

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