Seroatlas · Human Serome Atlas

KCTD17

BTB/POZ domain-containing protein KCTD17

Also known as: FLJ12242, KCD17_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q8N5Z5
Gene
KCTD17
Ensembl
ENSG00000100379
Chromosome
22
Canonical length
314 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Quaternary structure
Homopentamer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

314 residues, UniProt reviewed canonical sequence.

>Q8N5Z5|KCTD17
     1  MRMEAGEAAP PAGAGGRAAG GWGKWVRLNV GGTVFLTTRQ TLCREQKSFL SRLCQGEELQ
    61  SDRDETGAYL IDRDPTYFGP ILNFLRHGKL VLDKDMAEEG VLEEAEFYNI GPLIRIIKDR
   121  MEEKDYTVTQ VPPKHVYRVL QCQEEELTQM VSTMSDGWRF EQLVNIGSSY NYGSEDQAEF
   181  LCVVSKELHS TPNGLSSESS RKTKSTEEQL EEQQQQEEEV EEVEVEQVQV EADAQEKAQS
   241  SQDPANLFSL PPLPPPPLPA GGSRPHPLRP EAELAVRASP RPLARPQSCH PCCYKPEAPG
   301  CEAPDHLQGL GVPI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KCTD17 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.5
Highest tissue expression
147 nTPM

Expression across tissuesHPA

Tissue

  • basal ganglia: 147 nTPM
  • cerebral cortex: 73 nTPM
  • hippocampal formation: 70 nTPM
  • amygdala: 64 nTPM
  • testis: 44 nTPM
  • pituitary gland: 42 nTPM

Single-cell type

  • ependymal cells: 52 nCPM
  • brain inhibitory neurons: 49 nCPM
  • late primary spermatocytes: 43 nCPM
  • late spermatids: 37 nCPM
  • corticotrophs: 34 nCPM
  • lymphatic endothelial cells: 32 nCPM

Immune cell

  • NK-cell: 1.6 nTPM
  • memory B-cell: 1.2 nTPM
  • intermediate monocyte: 1 nTPM
  • T-reg: 1 nTPM
  • gdT-cell: 0.9 nTPM
  • MAIT T-cell: 0.9 nTPM

Brain region

  • basal ganglia: 186 nTPM
  • thalamus: 126 nTPM
  • midbrain: 98 nTPM
  • hippocampal formation: 91 nTPM
  • amygdala: 86 nTPM
  • cerebral cortex: 82 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KCTD17.

Disease | AllUniProt

Conditions KCTD17 is implicated in, by any mechanism.

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 199 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Myoclonic dystonia 26

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.81
gnomAD pLI
0.02
gnomAD missense Z
1.58
DepMap mean gene effect
0
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KCTD17 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KCTD17 as an antibody target. Whether an autoantibody or antibody against KCTD17 could matter depends on whether native KCTD17 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KCTD17 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label KCTD17 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KCTD17. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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