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

    Gene ID: 106931, updated on 27-Nov-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 DNA-templated transcription. Predicted to be active in nucleus. Is expressed in brain; foregut; nasal epithelium; and tooth. Used to study scalp-ear-nipple syndrome. 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, Nov 2024]
    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. Genetic Variants in KCTD1 Are Associated with Isolated Dental Anomalies. Ruangchan C, et al. Int J Mol Sci, 2024 May 9. PMID 38791218, Free PMC Article
    4. Magnesium and Calcium Homeostasis Depend on KCTD1 Function in the Distal Nephron. Marneros AG. Cell Rep, 2021 Jan 12. PMID 33440155, Free PMC Article
    5. 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

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KCTD1 regulation of Adenylyl cyclase type 5 adjusts striatal cAMP signaling.
      Title: KCTD1 regulation of Adenylyl cyclase type 5 adjusts striatal cAMP signaling.
    2. 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.
    3. 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.
    4. 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.
    5. 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 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 negative regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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