KCTD10 potassium channel tetramerization domain containing 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCTD10provided by HGNC
Official Full Name: potassium channel tetramerization domain containing 10provided by HGNC
Primary source: HGNC:HGNC:23236
See related: Ensembl:ENSG00000110906 MIM:613421; AllianceGenome:HGNC:23236
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
Also known as: BTBD28; ULRO61; MSTP028; hBACURD3
Summary: The protein encoded by this gene binds proliferating cell nuclear antigen (PCNA) and may be involved in DNA synthesis and cell proliferation. In addition, the encoded protein may be a tumor suppressor. Several protein-coding and non-protein coding transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
Expression: Ubiquitous expression in thyroid (RPKM 26.1), endometrium (RPKM 18.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.11

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (109448655..109477300, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (109423549..109452209, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (109886460..109915105, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EIF3D is a novel substrate of CUL3/KCTD10 ubiquitin ligase. The ubiquitin code of EIF3D is K27-polyubiquitination at the lysine 153 and 275 residues.
Title: Cullin-3/KCTD10 complex is essential for K27-polyubiquitination of EIF3D in human hepatocellular carcinoma HepG2 cells.
The study showed that ERCC6 and HTRA1single nucleotide polymorphisms rs3793784 and rs11200638 were associated with increased odds of early and exudative age-related macular degeneration, while the variant in KCTD10 (rs56209061) was found to be protective.
Title: Haplotypes of HTRA1 rs1120638, TIMP3 rs9621532, VEGFA rs833068, CFI rs10033900, ERCC6 rs3793784, and KCTD10 rs56209061 Gene Polymorphisms in Age-Related Macular Degeneration.
results suggest that CEP97 degradation by the cullin-3-RBX1-KCTD10 complex plays a crucial role in serum-starvation-induced CP110 removal and ciliogenesis
Title: Cullin-3-KCTD10-mediated CEP97 degradation promotes primary cilium formation.
identified the RING E3 ligase complex Cullin-3-Rbx1-KCTD10 as key modulator of endothelial barrier integrity via its regulation of the ubiquitination, localization, and activity of RhoB.
Title: The Cullin-3-Rbx1-KCTD10 complex controls endothelial barrier function via K63 ubiquitination of RhoB.
This novel molecular axis (CUL3/KCTD10/RhoB) positively regulates the activity of Rac1 in HER2-positive breast cancers.
Title: Cullin-3/KCTD10 E3 complex is essential for Rac1 activation through RhoB degradation in human epidermal growth factor receptor 2-positive breast cancer cells.
These findings suggest that rs11066782 in KCTD10, rs11613718 in KCTD10 and rs11067233 in MMAB may contribute to the susceptibility of coronary heart disease by altering plasma HDL-C levels in Han Chinese.
Title: Association of KCTD10, MVK, and MMAB polymorphisms with dyslipidemia and coronary heart disease in Han Chinese population.
The gastrointestinal stromal tumor-specific transcription factor ETV1 may have no prognostic potential, whereas its downstream gene KCTD10 is associated with a favorable prognosis.
Title: Gene expression network analysis of ETV1 reveals KCTD10 as a novel prognostic biomarker in gastrointestinal stromal tumor.
KCTD10 inhibited the transcriptional activities of nuclear factor kappa B (NF-kappaB) and activating protein-1 reporters
Title: TNFAIP1 interacts with KCTD10 to promote the degradation of KCTD10 proteins and inhibit the transcriptional activities of NF-κB and AP-1.
Observational study of gene-disease association. (HuGE Navigator)
Title: Fine-mapping in African Americans of 8 recently discovered genetic loci for plasma lipids: the Jackson Heart Study.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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

EBI GWAS Catalog

Description
Common variants at 30 loci contribute to polygenic dyslipidemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-16017 (e-PCR)
- UniSTS:61450

WI-15687 (e-PCR)
- UniSTS:61451

D8S2279 (e-PCR)
- UniSTS:473907

1036 (e-PCR)
- UniSTS:52571

A004Z12 (e-PCR)
- UniSTS:56177

RH36905 (e-PCR)
- UniSTS:87932

D12S177E (e-PCR)
- UniSTS:78487

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Notch 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
contributes_to ubiquitin-protein transferase activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to ubiquitin-protein transferase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in negative regulation of Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
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	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within ubiquitin-dependent protein catabolic process	IDA Inferred from Direct Assay more info	PubMed

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	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3

Names: BTB/POZ domain-containing protein KCTD10; potassium channel tetramerisation domain containing 10; potassium channel tetramerization domain-containing protein 10

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.

mRNA and Protein(s)

NM_001317395.2 → NP_001304324.1 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AY205299, BX333975, DA440672

UniProtKB/TrEMBL

F5GWA4

Conserved Domains (1) summary

cd18399
Location:26 → 136

BTB_POZ_KCTD10_BACURD3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 10 (KCTD10)
NM_001317399.2 → NP_001304328.1 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses two alternate in-frame splice junctions compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AY205299, AY597809

UniProtKB/TrEMBL

F5GWA4

Related

ENSP00000441672.1, ENST00000540411.5

Conserved Domains (2) summary

smart00225
Location:33 → 131

BTB; Broad-Complex, Tramtrack and Bric a brac

pfam02214
Location:34 → 124

BTB_2; BTB/POZ domain
NM_031954.5 → NP_114160.1 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3 isoform 2

See identical proteins and their annotated locations for NP_114160.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.

Source sequence(s)

AY205299

Consensus CDS

CCDS9128.1

UniProtKB/Swiss-Prot

Q53HN2, Q59FV1, Q6PL47, Q96SU0, Q9H3F6

UniProtKB/TrEMBL

F5GWA4

Related

ENSP00000228495.6, ENST00000228495.11

Conserved Domains (1) summary

cd18399
Location:26 → 135

BTB_POZ_KCTD10_BACURD3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 10 (KCTD10)

RNA

NR_133897.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate exon and uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC007570, AK092170, AY205299
NR_133898.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate exon and uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AY205299, CX785497, DA440672

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

109448655..109477300 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047429638.1 → XP_047285594.1 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3 isoform X2
XM_047429637.1 → XP_047285593.1 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

109423549..109452209 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054373395.1 → XP_054229370.1 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3 isoform X2
XM_054373394.1 → XP_054229369.1 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3 isoform X1