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KCTD1 potassium channel tetramerization domain containing 1 [ Homo sapiens (human) ]

Gene ID: 284252, updated on 5-Mar-2024

Summary

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Official Symbol
KCTD1provided by HGNC
Official Full Name
potassium channel tetramerization domain containing 1provided by HGNC
Primary source
HGNC:HGNC:18249
See related
Ensembl:ENSG00000134504 MIM:613420; AllianceGenome:HGNC:18249
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
C18orf5
Summary
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]
Expression
Broad expression in skin (RPKM 10.7), esophagus (RPKM 8.1) and 21 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
18q11.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (26454910..26657473, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (26649034..26851482, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (24034874..24237437, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13183 Neighboring gene long intergenic non-protein coding RNA 1543 Neighboring gene MPRA-validated peak3087 silencer Neighboring gene uncharacterized LOC124904274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13185 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13188 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:24060471-24061670 Neighboring gene uncharacterized LOC124904273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:24126836-24127820 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9373 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9374 Neighboring gene Sharpr-MPRA regulatory region 2175 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:24129451-24130092 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:24128809-24129450 Neighboring gene Sharpr-MPRA regulatory region 221 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:24130735-24131376 Neighboring gene microRNA 8057 Neighboring gene cytokine induced apoptosis inhibitor 1 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr18:24230978-24231479 Neighboring gene uncharacterized LOC102725227 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13192 Neighboring gene prostate cancer associated transcript 18 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:24301517-24302018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:24302019-24302518 Neighboring gene uncharacterized LOC124904272 Neighboring gene Sharpr-MPRA regulatory region 3190 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13193

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
  • 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. Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants. Smaldone G, et al. Sci Rep, 2019 Jul 19. PMID 31324836, Free PMC Article
  2. Bivalent Copper Ions Promote Fibrillar Aggregation of KCTD1 and Induce Cytotoxicity. Liu Z, et al. Sci Rep, 2016 Sep 6. PMID 27596723, Free PMC Article
  3. Mutations in KCTD1 cause scalp-ear-nipple syndrome. Marneros AG, et al. Am J Hum Genet, 2013 Apr 4. PMID 23541344, Free PMC Article
  4. Expression, purification, and secondary structure characterization of recombinant KCTD1. Mei F, et al. Biochemistry (Mosc), 2012 Aug. PMID 22860917
  5. Characterization and expression of a human KCTD1 gene containing the BTB domain, which mediates transcriptional repression and homomeric interactions. Ding XF, et al. DNA Cell Biol, 2008 May. PMID 18358072

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis.
    Title: KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis.
  2. Magnesium and Calcium Homeostasis Depend on KCTD1 Function in the Distal Nephron.
    Title: Magnesium and Calcium Homeostasis Depend on KCTD1 Function in the Distal Nephron.
  3. KCTD1 mutants in scalpearnipple syndrome and AP2alpha P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/betacatenin signaling.
    Title: KCTD1 mutants in scalp‑ear‑nipple syndrome and AP‑2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β‑catenin signaling.
  4. AP-2beta/KCTD1 Control Distal Nephron Differentiation and Protect against Renal Fibrosis.
    Title: AP-2β/KCTD1 Control Distal Nephron Differentiation and Protect against Renal Fibrosis.
  5. Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants.
    Title: Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants.
  6. results reveal a novel role for Cu(2+) in determining the structure and function of KCTD1
    Title: Bivalent Copper Ions Promote Fibrillar Aggregation of KCTD1 and Induce Cytotoxicity.
  7. The authors find that the KCTD proteins 5, 6, 9 and 17 bind to Cul3 with high affinity, while the KCTD proteins 1 and 16 do not have detectable binding.
    Title: Structural Insights into KCTD Protein Assembly and Cullin3 Recognition.
  8. Mutations in KCTD1 cause scalp-ear-nipple syndrome.
    Title: Mutations in KCTD1 cause scalp-ear-nipple syndrome.
  9. 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.
  10. indicate the novel function of KCTD1 as the transcriptional repressor for AP-2 family, especially for AP-2alpha
    Title: The interaction of KCTD1 with transcription factor AP-2alpha inhibits its transactivation.
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
Scalp-ear-nipple syndrome
MedGen: C1867020 OMIM: 181270 GeneReviews: Not available
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EBI GWAS Catalog

Description
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp451C132

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transcription corepressor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transcription factor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein homooligomerization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
BTB/POZ domain-containing protein KCTD1

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_054919.2 RefSeqGene

    Range
    113920..207563
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001136205.2 → NP_001129677.1  BTB/POZ domain-containing protein KCTD1 isoform a

    See identical proteins and their annotated locations for NP_001129677.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 3. Variants 1, 2, 4 and 6 all encode the same isoform (a), which has a shorter N-terminus compared to isoform b.
    Source sequence(s)
    AK289870, BC063652, BX366041, CN290475
    Consensus CDS
    CCDS11888.1
    UniProtKB/Swiss-Prot
    A8K1F5, Q719H9
    UniProtKB/TrEMBL
    J3QRK1
    Related
    ENSP00000384367.3, ENST00000408011.7
    Conserved Domains (2) summary
    cd18387
    Location:28 → 132
    BTB_POZ_KCTD1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 1 (KCTD1)
    cl41727
    Location:154 → 237
    H1_KCTD12-like; H1 domain found in potassium channel tetramerization domain-containing proteins

  2. NM_001142730.3 → NP_001136202.1  BTB/POZ domain-containing protein KCTD1 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (b).
    Source sequence(s)
    AC007996
    UniProtKB/TrEMBL
    A0A2U3U043
    Related
    ENSP00000463041.2, ENST00000580059.7
    Conserved Domains (3) summary
    smart00225
    Location:640 → 735
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam12012
    Location:284 → 439
    DUF3504; Domain of unknown function (DUF3504)
    cl02518
    Location:640 → 732
    BTB; BTB/POZ domain

  3. NM_001258221.2 → NP_001245150.1  BTB/POZ domain-containing protein KCTD1 isoform a

    See identical proteins and their annotated locations for NP_001245150.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 3. Variants 1, 2, 4 and 6 all encode the same isoform (a), which has a shorter N-terminus compared to isoform b.
    Source sequence(s)
    AC007996
    Consensus CDS
    CCDS11888.1
    UniProtKB/Swiss-Prot
    A8K1F5, Q719H9
    UniProtKB/TrEMBL
    J3QRK1
    Related
    ENSP00000408405.2, ENST00000417602.5
    Conserved Domains (2) summary
    cd18387
    Location:28 → 132
    BTB_POZ_KCTD1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 1 (KCTD1)
    cl41727
    Location:154 → 237
    H1_KCTD12-like; H1 domain found in potassium channel tetramerization domain-containing proteins

  4. NM_001258222.3 → NP_001245151.1  BTB/POZ domain-containing protein KCTD1 isoform c

    See identical proteins and their annotated locations for NP_001245151.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 3. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform b.
    Source sequence(s)
    AC007996, AC012588
    UniProtKB/TrEMBL
    J3QRK1
    Related
    ENSP00000464261.1, ENST00000580191.5
    Conserved Domains (2) summary
    cd18387
    Location:36 → 140
    BTB_POZ_KCTD1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 1 (KCTD1)
    cl41727
    Location:162 → 245
    H1_KCTD12-like; H1 domain found in potassium channel tetramerization domain-containing proteins

  5. NM_001351443.1 → NP_001338372.1  BTB/POZ domain-containing protein KCTD1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 3. Variants 1, 2, 4 and 6 all encode the same isoform (a), which has a shorter N-terminus compared to isoform b.
    Source sequence(s)
    AC007996, BC063652, CN290475
    Consensus CDS
    CCDS11888.1
    UniProtKB/Swiss-Prot
    A8K1F5, Q719H9
    UniProtKB/TrEMBL
    J3QRK1
    Conserved Domains (2) summary
    cd18387
    Location:28 → 132
    BTB_POZ_KCTD1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 1 (KCTD1)
    cl41727
    Location:154 → 237
    H1_KCTD12-like; H1 domain found in potassium channel tetramerization domain-containing proteins

  6. NM_198991.4 → NP_945342.1  BTB/POZ domain-containing protein KCTD1 isoform a

    See identical proteins and their annotated locations for NP_945342.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 3. Variants 1, 2, 4 and 6 all encode the same isoform (a), which has a shorter N-terminus compared to isoform b.
    Source sequence(s)
    AC007996, AC090206
    Consensus CDS
    CCDS11888.1
    UniProtKB/Swiss-Prot
    A8K1F5, Q719H9
    UniProtKB/TrEMBL
    J3QRK1
    Related
    ENSP00000464170.1, ENST00000579973.5
    Conserved Domains (2) summary
    cd18387
    Location:28 → 132
    BTB_POZ_KCTD1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 1 (KCTD1)
    cl41727
    Location:154 → 237
    H1_KCTD12-like; H1 domain found in potassium channel tetramerization domain-containing proteins

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

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    26454910..26657473 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    26649034..26851482 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q719H9.1 GenPept UniProtKB/Swiss-Prot:Q719H9

Gene LinkOut

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