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    Kctd19 potassium channel tetramerisation domain containing 19 [ Mus musculus (house mouse) ]

    Gene ID: 279499, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Kctd19provided by MGI
    Official Full Name
    potassium channel tetramerisation domain containing 19provided by MGI
    Primary source
    MGI:MGI:3045294
    See related
    Ensembl:ENSMUSG00000051648 AllianceGenome:MGI:3045294
    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
    4922504H04Rik
    Summary
    Involved in male meiotic nuclear division. Located in nucleus. Is expressed in primary spermatocyte; secondary spermatocyte; seminiferous tubule; spermatid; and testis. Orthologous to human KCTD19 (potassium channel tetramerization domain containing 19). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis adult (RPKM 76.8) See more
    Orthologs
    human all
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    Genomic context

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    See Kctd19 in Genome Data Viewer
    Location:
    8 D3; 8 53.04 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (106109433..106140134, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (105382801..105413502, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene formin homology 2 domain containing 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:107871965-107872074 Neighboring gene predicted gene, 46049 Neighboring gene solute carrier family 9 (sodium/hydrogen exchanger), member 5 Neighboring gene pleckstrin homology domain containing, family G (with RhoGef domain) member 4 Neighboring gene leucine rich repeat containing 36 Neighboring gene tubulin polymerization-promoting protein family member 3

    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. ZFP541 and KCTD19 regulate chromatin organization and transcription programs for male meiotic progression. Zhou X, et al. Cell Prolif, 2024 Apr. PMID 37921559, Free PMC Article
    2. Homozygous nonsense variants of KCTD19 cause male infertility in humans and mice. Zhang Y, et al. J Genet Genomics, 2023 Aug. PMID 37257643
    3. Biallelic variants in KCTD19 associated with male factor infertility and oligoasthenoteratozoospermia. Wang W, et al. Hum Reprod, 2023 Jul 5. PMID 37192818
    4. The ZFP541-KCTD19 complex is essential for pachytene progression by activating meiotic genes during mouse spermatogenesis. Li Y, et al. J Genet Genomics, 2022 Nov. PMID 35341968
    5. Evaluation of the efficacy of creatine chemical exchange saturation transfer imaging in assessing testicular maturity. Kuribayashi S, et al. Reprod Med Biol, 2023 Jan-Dec. PMID 36845001, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ZFP541 and KCTD19 regulate chromatin organization and transcription programs for male meiotic progression.
      Title: ZFP541 and KCTD19 regulate chromatin organization and transcription programs for male meiotic progression.
    2. Homozygous nonsense variants of KCTD19 cause male infertility in humans and mice.
      Title: Homozygous nonsense variants of KCTD19 cause male infertility in humans and mice.
    3. Biallelic variants in KCTD19 associated with male factor infertility and oligoasthenoteratozoospermia.
      Title: Biallelic variants in KCTD19 associated with male factor infertility and oligoasthenoteratozoospermia.
    4. KCTD19 and its associated protein ZFP541 are independently essential for meiosis in male mice.
      Title: KCTD19 and its associated protein ZFP541 are independently essential for meiosis in male mice.
    5. Meiosis-specific ZFP541 repressor complex promotes developmental progression of meiotic prophase towards completion during mouse spermatogenesis.
      Title: Meiosis-specific ZFP541 repressor complex promotes developmental progression of meiotic prophase towards completion during mouse spermatogenesis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC107186

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in male meiotic nuclear division IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein homooligomerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    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 KCTD19

    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_001301173.1 → NP_001288102.1  BTB/POZ domain-containing protein KCTD19 isoform 2

      See identical proteins and their annotated locations for NP_001288102.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC124584, BC092530
      Consensus CDS
      CCDS80922.1
      UniProtKB/Swiss-Prot
      Q562E2, Q8C628
      Related
      ENSMUSP00000130831.2, ENSMUST00000167294.8
      Conserved Domains (1) summary
      cl02518
      Location:18 → 72
      BTB; BTB/POZ domain

    2. NM_177791.3 → NP_808459.1  BTB/POZ domain-containing protein KCTD19 isoform 1

      See identical proteins and their annotated locations for NP_808459.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC092530, BC125431
      Consensus CDS
      CCDS40459.1
      UniProtKB/Swiss-Prot
      Q562E2
      Related
      ENSMUSP00000050687.7, ENSMUST00000063071.13
      Conserved Domains (3) summary
      cd18373
      Location:15 → 112
      BTB1_POZ_KCTD19; first BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 19 (KCTD19)
      cd18374
      Location:420 → 518
      BTB2_POZ_KCTD19; second BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 19 (KCTD19)
      cl38908
      Location:179 → 256
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      106109433..106140134 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011248400.3 → XP_011246702.1  BTB/POZ domain-containing protein KCTD19 isoform X2

      Conserved Domains (3) summary
      cd18373
      Location:27 → 124
      BTB1_POZ_KCTD19; first BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 19 (KCTD19)
      cd18374
      Location:409 → 507
      BTB2_POZ_KCTD19; second BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 19 (KCTD19)
      cl38908
      Location:196 → 268
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

    2. XM_011248399.3 → XP_011246701.1  BTB/POZ domain-containing protein KCTD19 isoform X1

      Conserved Domains (3) summary
      cd18373
      Location:27 → 124
      BTB1_POZ_KCTD19; first BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 19 (KCTD19)
      cd18374
      Location:432 → 530
      BTB2_POZ_KCTD19; second BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in potassium channel tetramerization domain-containing protein 19 (KCTD19)
      cl38908
      Location:196 → 268
      BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q562E2.2 GenPept UniProtKB/Swiss-Prot:Q562E2

    Gene LinkOut

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

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