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    Klhl24 kelch-like 24 [ Mus musculus (house mouse) ]

    Gene ID: 75785, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Klhl24provided by MGI
    Official Full Name
    kelch-like 24provided by MGI
    Primary source
    MGI:MGI:1923035
    See related
    Ensembl:ENSMUSG00000062901 AllianceGenome:MGI:1923035
    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
    1110046J11Rik; 4930429H24Rik; 6530402O20Rik
    Summary
    Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in intermediate filament organization; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein autoubiquitination. Predicted to be located in adherens junction and desmosome. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. Is expressed in central nervous system; ganglia; and olfactory epithelium. Human ortholog(s) of this gene implicated in epidermolysis bullosa simplex and familial hypertrophic cardiomyopathy. Orthologous to human KLHL24 (kelch like family member 24). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in heart adult (RPKM 15.9), bladder adult (RPKM 11.6) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Klhl24 in Genome Data Viewer
    Location:
    16 A3; 16 12.36 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (19916286..19947976)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (20097553..20129226)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA A930003A15 gene Neighboring gene STARR-seq mESC enhancer starr_40308 Neighboring gene kelch-like 6 Neighboring gene STARR-seq mESC enhancer starr_40309 Neighboring gene STARR-positive B cell enhancer ABC_E2456 Neighboring gene STARR-positive B cell enhancer ABC_E1183 Neighboring gene YEATS domain containing 2 Neighboring gene STARR-seq mESC enhancer starr_40314 Neighboring gene SMT3 suppressor of mif two 3 homolog 2 pseudogene Neighboring gene STARR-seq mESC enhancer starr_40316 Neighboring gene predicted gene, 41431 Neighboring gene MAP6 domain containing 1

    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 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. Excess KLHL24 Impairs Skin Wound Healing through the Degradation of Vimentin. Liu Y, et al. J Invest Dermatol, 2023 Jul. PMID 36716923
    2. KLHL24-Mediated Hair Follicle Stem Cells Structural Disruption Causes Alopecia. Cui J, et al. J Invest Dermatol, 2022 Aug. PMID 35066002
    3. Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. Lin Z, et al. Nat Genet, 2016 Dec. PMID 27798626
    4. KRIP6: a novel BTB/kelch protein regulating function of kainate receptors. Laezza F, et al. Mol Cell Neurosci, 2007 Apr. PMID 17254796, Free PMC Article
    5. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, et al. Development, 2000 Apr. PMID 10725249

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Excess KLHL24 Impairs Skin Wound Healing through the Degradation of Vimentin.
      Title: Excess KLHL24 Impairs Skin Wound Healing through the Degradation of Vimentin.
    2. KLHL24-Mediated Hair Follicle Stem Cells Structural Disruption Causes Alopecia.
      Title: KLHL24-Mediated Hair Follicle Stem Cells Structural Disruption Causes Alopecia.
    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ubiquitin-like ligase-substrate adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in intermediate filament organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in intermediate filament organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein autoubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein autoubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein ubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of kainate selective glutamate receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Cul3-RING ubiquitin ligase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of Cul3-RING ubiquitin ligase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in adherens junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in adherens junction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in desmosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in desmosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    kelch-like protein 24
    Names
    KRIP6
    kainate receptor-interacting protein for GluR6

    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_029436.3 → NP_083712.4  kelch-like protein 24

      See identical proteins and their annotated locations for NP_083712.4

      Status: VALIDATED

      Source sequence(s)
      AC165282
      Consensus CDS
      CCDS28042.1
      UniProtKB/Swiss-Prot
      Q3TQG0, Q78J30, Q8BQU1, Q8BRG6, Q9D5K3
      Related
      ENSMUSP00000023509.4, ENSMUST00000023509.5
      Conserved Domains (4) summary
      smart00612
      Location:545 → 591
      Kelch; Kelch domain
      PHA03098
      Location:62 → 566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354 → 393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48 → 168
      BTB_POZ_KLHL24_KRIP6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 24 (KLHL24)

    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_000082.7 Reference GRCm39 C57BL/6J

      Range
      19916286..19947976
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006522687.5 → XP_006522750.1  kelch-like protein 24 isoform X1

      See identical proteins and their annotated locations for XP_006522750.1

      UniProtKB/Swiss-Prot
      Q3TQG0, Q78J30, Q8BQU1, Q8BRG6, Q9D5K3
      Conserved Domains (4) summary
      smart00612
      Location:545 → 591
      Kelch; Kelch domain
      PHA03098
      Location:62 → 566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354 → 393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48 → 168
      BTB_POZ_KLHL24_KRIP6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 24 (KLHL24)

    2. XM_036160174.1 → XP_036016067.1  kelch-like protein 24 isoform X1

      UniProtKB/Swiss-Prot
      Q3TQG0, Q78J30, Q8BQU1, Q8BRG6, Q9D5K3
      Conserved Domains (4) summary
      smart00612
      Location:545 → 591
      Kelch; Kelch domain
      PHA03098
      Location:62 → 566
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:354 → 393
      Kelch; KELCH repeat [structural motif]
      cd18253
      Location:48 → 168
      BTB_POZ_KLHL24_KRIP6; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 24 (KLHL24)

    RNA

    1. XR_004939253.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BRG6.2 GenPept UniProtKB/Swiss-Prot:Q8BRG6

    Gene LinkOut

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

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