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

Gene ID: 284252, updated on 4-Oct-2020

Summary

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
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

Genomic context

See KCTD1 in Genome Data Viewer
Location:
18q11.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (26454910..26657473, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (24034874..24237365, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985142 Neighboring gene long intergenic non-protein coding RNA 1543 Neighboring gene Sharpr-MPRA regulatory region 2175 Neighboring gene microRNA 8057 Neighboring gene cytokine induced apoptosis inhibitor 1 pseudogene Neighboring gene uncharacterized LOC102725227 Neighboring gene prostate cancer associated transcript 18 Neighboring gene uncharacterized LOC105372035

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
GeneReviews: Not available
Scalp-ear-nipple syndrome
MedGen: C1867020 OMIM: 181270 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp451C132

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription corepressor activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
negative regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
negative regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
protein homooligomerization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
centriolar satellite IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
intercellular bridge IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
BTB/POZ domain-containing protein KCTD1

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_054919.1 RefSeqGene

    Range
    113078..207603
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001136205.2NP_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
    Q719H9
    UniProtKB/TrEMBL
    A0A024RC45
    Related
    ENSP00000384367.3, ENST00000408011.7
    Conserved Domains (1) summary
    cd18387
    Location:28132
    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)
  2. NM_001142730.3NP_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/Swiss-Prot
    Q719H9
    Related
    ENSP00000463041.2, ENST00000580059.7
    Conserved Domains (3) summary
    smart00225
    Location:640735
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam12012
    Location:284439
    DUF3504; Domain of unknown function (DUF3504)
    cl02518
    Location:640732
    BTB; BTB/POZ domain
  3. NM_001258221.2NP_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
    Q719H9
    UniProtKB/TrEMBL
    A0A024RC45
    Related
    ENSP00000408405.2, ENST00000417602.5
    Conserved Domains (1) summary
    cd18387
    Location:28132
    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)
  4. NM_001258222.3NP_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
    Related
    ENSP00000464261.1, ENST00000580191.5
    Conserved Domains (1) summary
    cd18387
    Location:36140
    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)
  5. NM_001351443.1NP_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
    Conserved Domains (1) summary
    cd18387
    Location:28132
    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)
  6. NM_198991.4NP_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
    Q719H9
    UniProtKB/TrEMBL
    A0A024RC45
    Related
    ENSP00000464170.1, ENST00000579973.5
    Conserved Domains (1) summary
    cd18387
    Location:28132
    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)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

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