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Kctd1 potassium channel tetramerisation domain containing 1 [ Mus musculus (house mouse) ]

Gene ID: 106931, updated on 5-Mar-2024

Summary

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Official Symbol
Kctd1provided by MGI
Official Full Name
potassium channel tetramerisation domain containing 1provided by MGI
Primary source
MGI:MGI:1918269
See related
Ensembl:ENSMUSG00000036225 AllianceGenome:MGI:1918269
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
4933402K10Rik
Summary
Predicted to enable identical protein binding activity and transcription corepressor activity. Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to be located in several cellular components, including centriolar satellite; intercellular bridge; and nuclear lumen. Predicted to be active in nucleus. Is expressed in brain; foregut; nasal epithelium; and tooth. Human ortholog(s) of this gene implicated in scalp-ear-nipple syndrome. Orthologous to human KCTD1 (potassium channel tetramerization domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in adrenal adult (RPKM 5.1), frontal lobe adult (RPKM 4.7) and 21 other tissues See more
Orthologs
human all
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Genomic context

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See Kctd1 in Genome Data Viewer
Location:
18 A1; 18 8.28 cM
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (15101742..15284503, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (14968685..15151446, complement)

Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene SUMO/sentrin specific peptidase 5 pseudogene Neighboring gene predicted gene, 54035 Neighboring gene RIKEN cDNA 4933424G05 gene Neighboring gene mitochondrial ribosomal protein L27, pseudogene Neighboring gene STARR-seq mESC enhancer starr_43881 Neighboring gene STARR-seq mESC enhancer starr_43882 Neighboring gene STARR-seq mESC enhancer starr_43883 Neighboring gene predicted gene, 57822 Neighboring gene aldehyde dehydrogenase 9, subfamily A1 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. KCTD1 and Scalp-Ear-Nipple ('Finlay-Marks') syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains. Wang D, et al. Ophthalmic Genet, 2023 Feb. PMID 36579937
  2. Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1 (I27N) mutant mice. Kumar S, et al. J Biomed Sci, 2017 Aug 17. PMID 28818080, Free PMC Article
  3. Magnesium and Calcium Homeostasis Depend on KCTD1 Function in the Distal Nephron. Marneros AG. Cell Rep, 2021 Jan 12. PMID 33440155, Free PMC Article
  4. KCTD1: A novel modulator of adipogenesis through the interaction with the transcription factor AP2α. Pirone L, et al. Biochim Biophys Acta Mol Cell Biol Lipids, 2019 Dec. PMID 31465887
  5. Anomalous incisor morphology indicates tissue-specific roles for Tfap2a and Tfap2b in tooth development. Woodruff ED, et al. Dev Biol, 2021 Apr. PMID 33460639, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. KCTD1 and Scalp-Ear-Nipple ('Finlay-Marks') syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV alpha3 and alpha4 chains.
    Title: KCTD1 and Scalp-Ear-Nipple ('Finlay-Marks') syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains.
  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 promotes adipogenesis through the interaction with transcription factor AP2 alpha and by removing it from the nucleus.
    Title: KCTD1: A novel modulator of adipogenesis through the interaction with the transcription factor AP2α.
  4. The main pathological phenotype of the Kctd1 (I27N) heterozygous mutant mice consists of kidney dysfunction and secondary effects thereof, without gross additional primary alterations in the other phenotypic parameters analyzed.
    Title: Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1 (I27N) mutant mice.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transcription corepressor activity ISO
Inferred from Sequence Orthology
more info
  
enables transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transcription factor binding ISO
Inferred from Sequence Orthology
more info
  
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 ISO
Inferred from Sequence Orthology
more info
  
involved_in protein homooligomerization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
BTB/POZ domain-containing protein KCTD1
Names
potassium channel tetramerization domain containing 1

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)

  1. NM_001142731.1 → NP_001136203.1  BTB/POZ domain-containing protein KCTD1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC102409, AC125091
    Consensus CDS
    CCDS50228.1
    UniProtKB/TrEMBL
    E9Q6T9
    Related
    ENSMUSP00000128070.2, ENSMUST00000168989.9
    Conserved Domains (4) summary
    pfam09606
    Location:569 → 657
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
    cl00213
    Location:279 → 434
    DNA_BRE_C; DNA breaking-rejoining enzymes, C-terminal catalytic domain
    cl02518
    Location:636 → 728
    BTB; BTB/POZ domain
    cl26464
    Location:489 → 635
    Atrophin-1; Atrophin-1 family

  2. NM_134112.5 → NP_598873.2  BTB/POZ domain-containing protein KCTD1 isoform 2

    See identical proteins and their annotated locations for NP_598873.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and coding region, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC102342, AC125091
    Consensus CDS
    CCDS50229.1
    UniProtKB/Swiss-Prot
    Q5M956
    Related
    ENSMUSP00000025992.7, ENSMUST00000025992.7
    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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000084.7 Reference GRCm39 C57BL/6J

    Range
    15101742..15284503 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036160918.1 → XP_036016811.1  BTB/POZ domain-containing protein KCTD1 isoform X1

    UniProtKB/Swiss-Prot
    Q5EER9, Q5M956
    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. XM_006525485.5 → XP_006525548.1  BTB/POZ domain-containing protein KCTD1 isoform X1

    See identical proteins and their annotated locations for XP_006525548.1

    UniProtKB/Swiss-Prot
    Q5EER9, Q5M956
    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
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5M956.1 GenPept UniProtKB/Swiss-Prot:Q5M956

Gene LinkOut

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