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    Klhl40 kelch-like 40 [ Mus musculus (house mouse) ]

    Gene ID: 72330, updated on 14-May-2024

    Summary

    Official Symbol
    Klhl40provided by MGI
    Official Full Name
    kelch-like 40provided by MGI
    Primary source
    MGI:MGI:1919580
    See related
    Ensembl:ENSMUSG00000074001 AllianceGenome:MGI:1919580
    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
    Kbtbd5; 2310024D23Rik
    Summary
    Involved in myotube differentiation and positive regulation of cellular protein metabolic process. Acts upstream of or within negative regulation of proteasomal ubiquitin-dependent protein catabolic process and negative regulation of protein ubiquitination. Located in A band and I band. Part of Cul3-RING ubiquitin ligase complex. Is expressed in several structures, including diaphragm; genitourinary system; limb segment; musculature; and paraxial mesenchyme. Used to study nemaline myopathy 8. Human ortholog(s) of this gene implicated in nemaline myopathy 8. Orthologous to human KLHL40 (kelch like family member 40). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in mammary gland adult (RPKM 4.8), heart adult (RPKM 3.3) and 7 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    9 F4; 9 72.61 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (121606673..121612885)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (121777499..121791200)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E10593 Neighboring gene natural killer tumor recognition sequence Neighboring gene RIKEN cDNA E530011L22 gene Neighboring gene STARR-positive B cell enhancer ABC_E6812 Neighboring gene zinc finger and BTB domain containing 47 Neighboring gene hedgehog acyltransferase-like Neighboring gene coiled-coil domain containing 13 Neighboring gene predicted gene, 51698

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (2)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within negative regulation of proteasomal ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within negative regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of proteasome-mediated ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in skeletal muscle fiber development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within skeletal muscle fiber development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in skeletal muscle fiber development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within skeletal muscle fiber differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in skeletal muscle fiber differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in A band IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in A band IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of Cul3-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in I band IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in I band IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    kelch-like protein 40
    Names
    kelch repeat and BTB (POZ) domain containing 5
    kelch repeat and BTB domain-containing protein 5

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_028202.3NP_082478.1  kelch-like protein 40

      See identical proteins and their annotated locations for NP_082478.1

      Status: VALIDATED

      Source sequence(s)
      AK160799, BC125576
      Consensus CDS
      CCDS23637.1
      UniProtKB/Swiss-Prot
      B9EHG6, Q059P8, Q3TUF0, Q9D783
      UniProtKB/TrEMBL
      A0A0R4J166
      Related
      ENSMUSP00000095873.3, ENSMUST00000098272.4
      Conserved Domains (6) summary
      smart00612
      Location:463510
      Kelch; Kelch domain
      PHA03098
      Location:47594
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:402448
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:23125
      BTB; BTB/POZ domain
      pfam01344
      Location:499538
      Kelch_1; Kelch motif
      pfam07707
      Location:133239
      BACK; BTB And C-terminal Kelch

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      121606673..121612885
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)