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    Klhl8 kelch-like 8 [ Mus musculus (house mouse) ]

    Gene ID: 246293, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Klhl8provided by MGI
    Official Full Name
    kelch-like 8provided by MGI
    Primary source
    MGI:MGI:2179430
    See related
    Ensembl:ENSMUSG00000029312 AllianceGenome:MGI:2179430
    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
    D5Ertd431e; 2310001P09Rik
    Summary
    Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process and protein ubiquitination. Predicted to be located in nucleoplasm. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. Is expressed in several structures, including adrenal gland; brain; future hindbrain; genitourinary system; and gut. Orthologous to human KLHL8 (kelch like family member 8). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in CNS E18 (RPKM 14.2), whole brain E14.5 (RPKM 10.2) and 23 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Klhl8 in Genome Data Viewer
    Location:
    5 E5; 5 50.45 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (104009916..104059137, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (103862050..103911259, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E3590 Neighboring gene predicted gene, 42138 Neighboring gene predicted gene, 25721 Neighboring gene STARR-positive B cell enhancer mm9_chr5:104121192-104121493 Neighboring gene STARR-positive B cell enhancer ABC_E3591 Neighboring gene STARR-seq mESC enhancer starr_13785 Neighboring gene STARR-seq mESC enhancer starr_13786 Neighboring gene STARR-positive B cell enhancer ABC_E10335 Neighboring gene STARR-positive B cell enhancer ABC_E8066 Neighboring gene STARR-seq mESC enhancer starr_13791 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:104155653-104155892 Neighboring gene STARR-seq mESC enhancer starr_13794 Neighboring gene AF4/FMR2 family, member 1 Neighboring gene STARR-positive B cell enhancer ABC_E2755 Neighboring gene STARR-positive B cell enhancer ABC_E9258 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:104185304-104185591 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:104189527-104189796 Neighboring gene STARR-seq mESC enhancer starr_13808 Neighboring gene predicted gene, 42139 Neighboring gene predicted gene, 24897 Neighboring gene STARR-positive B cell enhancer mm9_chr5:104356466-104356766 Neighboring gene STARR-seq mESC enhancer starr_13815 Neighboring gene hydroxysteroid (17-beta) dehydrogenase 13 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:104436899-104437123 Neighboring gene hydroxysteroid (17-beta) dehydrogenase 11 Neighboring gene STARR-seq mESC enhancer starr_13817

    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. A mutation in Af4 is predicted to cause cerebellar ataxia and cataracts in the robotic mouse. Isaacs AM, et al. J Neurosci, 2003 Mar 1. PMID 12629167, Free PMC Article
    2. Integrated microarray and ChIP analysis identifies multiple Foxa2 dependent target genes in the notochord. Tamplin OJ, et al. Dev Biol, 2011 Dec 15. PMID 22008794
    3. Characterization of an exchangeable gene trap using pU-17 carrying a stop codon-beta geo cassette. Taniwaki T, et al. Dev Growth Differ, 2005 Apr. PMID 15840001
    4. Exchangeable gene trap using the Cre/mutated lox system. Araki K, et al. Cell Mol Biol (Noisy-le-grand), 1999 Jul. PMID 10512203
    5. High-throughput discovery of novel developmental phenotypes. Dickinson ME, et al. Nature, 2016 Sep 22. PMID 27626380, Free PMC Article

    See all (24) 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 (2) 
    • Gene trapped (1) 
    • Targeted (2) 

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC102224

    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 proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    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 ubiquitin-dependent protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    kelch-like protein 8

    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_001359986.1 → NP_001346915.1  kelch-like protein 8

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.
      Source sequence(s)
      AL731554
      Consensus CDS
      CCDS19479.1
      UniProtKB/Swiss-Prot
      P59280, Q8CD84
      Conserved Domains (4) summary
      smart00612
      Location:564 → 609
      Kelch; Kelch domain
      PHA03098
      Location:69 → 544
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:365 → 408
      Kelch; KELCH repeat [structural motif]
      cd18238
      Location:61 → 180
      BTB_POZ_KLHL8; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 8 (KLHL8)

    2. NM_001359987.1 → NP_001346916.1  kelch-like protein 8

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
      Source sequence(s)
      AL731554
      Consensus CDS
      CCDS19479.1
      UniProtKB/Swiss-Prot
      P59280, Q8CD84
      Conserved Domains (4) summary
      smart00612
      Location:564 → 609
      Kelch; Kelch domain
      PHA03098
      Location:69 → 544
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:365 → 408
      Kelch; KELCH repeat [structural motif]
      cd18238
      Location:61 → 180
      BTB_POZ_KLHL8; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 8 (KLHL8)

    3. NM_178741.4 → NP_848856.1  kelch-like protein 8

      See identical proteins and their annotated locations for NP_848856.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
      Source sequence(s)
      AK031028, BY250847
      Consensus CDS
      CCDS19479.1
      UniProtKB/Swiss-Prot
      P59280, Q8CD84
      Related
      ENSMUSP00000031254.3, ENSMUST00000031254.9
      Conserved Domains (4) summary
      smart00612
      Location:564 → 609
      Kelch; Kelch domain
      PHA03098
      Location:69 → 544
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:365 → 408
      Kelch; KELCH repeat [structural motif]
      cd18238
      Location:61 → 180
      BTB_POZ_KLHL8; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 8 (KLHL8)

    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_000071.7 Reference GRCm39 C57BL/6J

      Range
      104009916..104059137 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030254509.2 → XP_030110369.1  kelch-like protein 8 isoform X1

      UniProtKB/Swiss-Prot
      P59280, Q8CD84
      Conserved Domains (4) summary
      smart00612
      Location:564 → 609
      Kelch; Kelch domain
      PHA03098
      Location:69 → 544
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:365 → 408
      Kelch; KELCH repeat [structural motif]
      cd18238
      Location:61 → 180
      BTB_POZ_KLHL8; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 8 (KLHL8)

    2. XM_030254508.2 → XP_030110368.1  kelch-like protein 8 isoform X1

      UniProtKB/Swiss-Prot
      P59280, Q8CD84
      Conserved Domains (4) summary
      smart00612
      Location:564 → 609
      Kelch; Kelch domain
      PHA03098
      Location:69 → 544
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:365 → 408
      Kelch; KELCH repeat [structural motif]
      cd18238
      Location:61 → 180
      BTB_POZ_KLHL8; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 8 (KLHL8)

    3. XM_030254510.2 → XP_030110370.1  kelch-like protein 8 isoform X1

      UniProtKB/Swiss-Prot
      P59280, Q8CD84
      Conserved Domains (4) summary
      smart00612
      Location:564 → 609
      Kelch; Kelch domain
      PHA03098
      Location:69 → 544
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:365 → 408
      Kelch; KELCH repeat [structural motif]
      cd18238
      Location:61 → 180
      BTB_POZ_KLHL8; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 8 (KLHL8)

    4. XM_036165139.1 → XP_036021032.1  kelch-like protein 8 isoform X1

      UniProtKB/Swiss-Prot
      P59280, Q8CD84
      Conserved Domains (4) summary
      smart00612
      Location:564 → 609
      Kelch; Kelch domain
      PHA03098
      Location:69 → 544
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:365 → 408
      Kelch; KELCH repeat [structural motif]
      cd18238
      Location:61 → 180
      BTB_POZ_KLHL8; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 8 (KLHL8)

    5. XM_036165138.1 → XP_036021031.1  kelch-like protein 8 isoform X1

      UniProtKB/Swiss-Prot
      P59280, Q8CD84
      Conserved Domains (4) summary
      smart00612
      Location:564 → 609
      Kelch; Kelch domain
      PHA03098
      Location:69 → 544
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:365 → 408
      Kelch; KELCH repeat [structural motif]
      cd18238
      Location:61 → 180
      BTB_POZ_KLHL8; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 8 (KLHL8)

    6. XM_036165137.1 → XP_036021030.1  kelch-like protein 8 isoform X1

      UniProtKB/Swiss-Prot
      P59280, Q8CD84
      Conserved Domains (4) summary
      smart00612
      Location:564 → 609
      Kelch; Kelch domain
      PHA03098
      Location:69 → 544
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:365 → 408
      Kelch; KELCH repeat [structural motif]
      cd18238
      Location:61 → 180
      BTB_POZ_KLHL8; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 8 (KLHL8)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P59280.2 GenPept UniProtKB/Swiss-Prot:P59280

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