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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
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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
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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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