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    Klhdc1 kelch domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 271005, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Klhdc1provided by MGI
    Official Full Name
    kelch domain containing 1provided by MGI
    Primary source
    MGI:MGI:2672853
    See related
    Ensembl:ENSMUSG00000051890 AllianceGenome:MGI:2672853
    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
    Summary
    Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway. Predicted to be part of Cul5-RING ubiquitin ligase complex. Predicted to be active in cytosol. Orthologous to human KLHDC1 (kelch domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis adult (RPKM 2.2), frontal lobe adult (RPKM 2.0) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Klhdc1 in Genome Data Viewer
    Location:
    12 C2; 12 28.74 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (69274529..69331420)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (69227729..69284646)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 9330151L19 gene Neighboring gene mannoside acetylglucosaminyltransferase 2 Neighboring gene dynein, axonemal assembly factor 2 Neighboring gene STARR-seq mESC enhancer starr_32361 Neighboring gene polymerase (DNA directed), epsilon 2 (p59 subunit) Neighboring gene STARR-positive B cell enhancer ABC_E10753 Neighboring gene STARR-seq mESC enhancer starr_32363 Neighboring gene kelch domain containing 2 Neighboring gene nuclear export mediator factor Neighboring gene STARR-seq mESC enhancer starr_32364 Neighboring gene STARR-positive B cell enhancer ABC_E10754

    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. Genetic determinants of micronucleus formation in vivo. Adams DJ, et al. Nature, 2024 Mar. PMID 38355793, Free PMC Article
    2. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article
    3. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article
    4. Antisense transcription in the mammalian transcriptome. Katayama S, et al. Science, 2005 Sep 2. PMID 16141073
    5. High-efficiency full-length cDNA cloning. Carninci P, et al. Methods Enzymol, 1999. PMID 10349636

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    General gene information

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    Homology

    Clone Names

    • MGC141300, MGC141301

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ubiquitin-like ligase-substrate adaptor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ubiquitin-like ligase-substrate adaptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process via the C-end degron rule pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of Cul5-RING ubiquitin ligase complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of Cul5-RING ubiquitin ligase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    kelch domain-containing protein 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_001413289.1 → NP_001400218.1  kelch domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC099934

    2. NM_001413290.1 → NP_001400219.1  kelch domain-containing protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC099934

    3. NM_001413291.1 → NP_001400220.1  kelch domain-containing protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC099934

    4. NM_178253.6 → NP_839984.1  kelch domain-containing protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC099934
      Consensus CDS
      CCDS25949.1
      UniProtKB/Swiss-Prot
      Q0VDQ7, Q80YG3
      UniProtKB/TrEMBL
      Q0VDQ8
      Related
      ENSMUSP00000068046.7, ENSMUST00000063445.13
      Conserved Domains (4) summary
      sd00038
      Location:197 → 245
      Kelch; KELCH repeat [structural motif]
      pfam13415
      Location:206 → 256
      Kelch_3; Galactose oxidase, central domain
      pfam13418
      Location:247 → 295
      Kelch_4; Galactose oxidase, central domain
      pfam13854
      Location:13 → 54
      Kelch_5; Kelch motif

    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_000078.7 Reference GRCm39 C57BL/6J

      Range
      69274529..69331420
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011244119.4 → XP_011242421.1  kelch domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      Q0VDQ8
      Conserved Domains (3) summary
      PLN02153
      Location:138 → 278
      PLN02153; epithiospecifier protein
      PLN02193
      Location:1 → 237
      PLN02193; nitrile-specifier protein
      sd00038
      Location:152 → 200
      Kelch; KELCH repeat [structural motif]

    2. XM_011244120.2 → XP_011242422.1  kelch domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      Q0VDQ8
      Conserved Domains (3) summary
      PLN02153
      Location:138 → 278
      PLN02153; epithiospecifier protein
      PLN02193
      Location:1 → 237
      PLN02193; nitrile-specifier protein
      sd00038
      Location:152 → 200
      Kelch; KELCH repeat [structural motif]

    3. XM_030246743.1 → XP_030102603.1  kelch domain-containing protein 1 isoform X3

      Conserved Domains (2) summary
      PLN02153
      Location:62 → 202
      PLN02153; epithiospecifier protein
      sd00038
      Location:76 → 124
      Kelch; KELCH repeat [structural motif]
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80YG3.1 GenPept UniProtKB/Swiss-Prot:Q80YG3

    Gene LinkOut

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