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

Gene ID: 79734, updated on 7-Jun-2020

Summary

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
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

Genomic context

See KCTD17 in Genome Data Viewer
Location:
22q12.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (37051725..37063390)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37447779..37459430)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene thiosulfate sulfurtransferase Neighboring gene uncharacterized LOC112268295 Neighboring gene mercaptopyruvate sulfurtransferase Neighboring gene RN7SK pseudogene 214 Neighboring gene transmembrane serine protease 6 Neighboring gene interleukin 2 receptor subunit beta Neighboring gene IL2RB promoter

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Dystonia 26, myoclonic
MedGen: C4225341 OMIM: 616398 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Seventy-five genetic loci influencing the human red blood cell.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12242, FLJ98761

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
BTB/POZ domain-containing protein KCTD17

NCBI Reference Sequences (RefSeq)

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
    5001..16655
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001269613.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AA761637, BC025403, BC031038, BG832241, HY034580
    Consensus CDS
    CCDS74854.1
    UniProtKB/Swiss-Prot
    Q8N5Z5
    Related
    ENSP00000385096.3, ENST00000403888.7
    Conserved Domains (2) summary
    smart00225
    Location:32131
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam02214
    Location:33121
    BTB_2; BTB/POZ domain
  2. NM_001282685.1NP_001269614.1  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)
    AA761637, AK022304, BX463485, HY029628, HY034580
    UniProtKB/Swiss-Prot
    Q8N5Z5
    Conserved Domains (2) summary
    smart00225
    Location:32131
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam02214
    Location:33121
    BTB_2; BTB/POZ domain
  3. NM_001282686.1NP_001269615.1  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)
    AA761637, AK022304, BC025403, BX951630, HY029628, HY034580
    Consensus CDS
    CCDS74855.1
    UniProtKB/Swiss-Prot
    Q8N5Z5
    UniProtKB/TrEMBL
    A0A087WX35
    Related
    ENSP00000480699.1, ENST00000610767.4
    Conserved Domains (2) summary
    smart00225
    Location:32131
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam02214
    Location:33121
    BTB_2; BTB/POZ domain
  4. NM_024681.3NP_078957.2  BTB/POZ domain-containing protein KCTD17 isoform 2

    See identical proteins and their annotated locations for NP_078957.2

    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)
    AA761637, BC025403, HY029628, HY034580
    Consensus CDS
    CCDS13940.2
    UniProtKB/Swiss-Prot
    Q8N5Z5
    Related
    ENSP00000384391.3, ENST00000402077.7
    Conserved Domains (2) summary
    smart00225
    Location:32131
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam02214
    Location:33121
    BTB_2; BTB/POZ domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    37051725..37063390
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005261741.3XP_005261798.2  BTB/POZ domain-containing protein KCTD17 isoform X2

    Conserved Domains (2) summary
    smart00225
    Location:32131
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam02214
    Location:33121
    BTB_2; BTB/POZ domain
  2. XM_005261744.2XP_005261801.1  BTB/POZ domain-containing protein KCTD17 isoform X5

    Conserved Domains (2) summary
    smart00225
    Location:32131
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam02214
    Location:33121
    BTB_2; BTB/POZ domain
  3. XM_011530374.2XP_011528676.1  BTB/POZ domain-containing protein KCTD17 isoform X1

    Conserved Domains (2) summary
    smart00225
    Location:32131
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam02214
    Location:33121
    BTB_2; BTB/POZ domain
  4. XM_011530377.2XP_011528679.1  BTB/POZ domain-containing protein KCTD17 isoform X6

    Conserved Domains (2) summary
    smart00225
    Location:32131
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam02214
    Location:33121
    BTB_2; BTB/POZ domain
  5. XM_005261742.3XP_005261799.2  BTB/POZ domain-containing protein KCTD17 isoform X3

    Conserved Domains (2) summary
    smart00225
    Location:32131
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam02214
    Location:33121
    BTB_2; BTB/POZ domain
  6. XM_005261743.3XP_005261800.2  BTB/POZ domain-containing protein KCTD17 isoform X4

    Conserved Domains (2) summary
    smart00225
    Location:32131
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam02214
    Location:33121
    BTB_2; BTB/POZ domain

RNA

  1. XR_001755296.1 RNA Sequence

  2. XR_937917.2 RNA Sequence

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