KCTD1

Protein identityUniProt · HPA

UniProt accession

Q719H9

Gene

KCTD1

Ensembl

ENSG00000134504

Chromosome

18

Canonical length

257 aa

Protein class

Disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nucleoli,Cytokinetic bridge,Centriolar satellite

Quaternary structure

Homopentamer

OverviewNCBI Gene

This gene encodes a protein containing a BTB (Broad-complex, tramtrack and bric a brac), also known as a POZ (POxvirus and zinc finger) protein-protein interaction domain. The encoded protein negatively regulates the AP-2 family of transcription factors and the Wnt signaling pathway. A mechanism for the modulation of Wnt signaling has been proposed in which the encoded protein enhances ubiquitination and degradation of the beta-catenin protein. Mutations in this gene have been identified in Scalp-ear-nipple (SEN) syndrome. [provided by RefSeq, May 2017]

Canonical amino-acid sequenceUniProt

257 residues, UniProt reviewed canonical sequence.

>Q719H9|KCTD1
     1  MSRPLITRSP ASPLNNQGIP TPAQLTKSNA PVHIDVGGHM YTSSLATLTK YPESRIGRLF
    61  DGTEPIVLDS LKQHYFIDRD GQMFRYILNF LRTSKLLIPD DFKDYTLLYE EAKYFQLQPM
   121  LLEMERWKQD RETGRFSRPC ECLVVRVAPD LGERITLSGD KSLIEEVFPE IGDVMCNSVN
   181  AGWNHDSTHV IRFPLNGYCH LNSVQVLERL QQRGFEIVGS CGGGVDSSQF SEYVLRRELR
   241  RTPRVPSVIR IKQEPLD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KCTD1 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)

0.38

Highest tissue expression

58 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KCTD1.

Disease | AllUniProt

Conditions KCTD1 is implicated in, by any mechanism.

• Scalp-ear-nipple syndrome (SENS) MIM:181270

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 221 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Scalp-ear-nipple syndrome

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)

0.44

gnomAD pLI

0.86

gnomAD missense Z

1.82

DepMap mean gene effect

-0.03

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

• negative regulation of DNA-templated transcription
• protein homooligomerization

Molecular functions

• identical protein binding
• transcription corepressor activity
• transcription factor binding

Cellular components

• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• BTB/POZ domain
• Potassium channel tetramerisation-type BTB domain
• SKP1/BTB/POZ domain superfamily
• BTB/POZ domain-containing protein KCTD1/15-like, C-terminal domain
• BTB/POZ domain
• BTB/POZ domain-containing protein KCTD1/15, C-terminal domain
• BTB/POZ domain-containing protein KCTD1, BTB/POZ domain

KeywordsUniProt

• Nucleus
• Phosphoprotein
• Repressor
• Transcription
• Transcription regulation
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of KCTD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• KCTD15
• TFAP2A
• TFAP2B
• TFAP2C