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    Klhl7 kelch-like 7 [ Mus musculus (house mouse) ]

    Gene ID: 52323, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Klhl7provided by MGI
    Official Full Name
    kelch-like 7provided by MGI
    Primary source
    MGI:MGI:1196453
    See related
    Ensembl:ENSMUSG00000028986 AllianceGenome:MGI:1196453
    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
    SBBI26; D5Ertd363e; 2700038B03Rik
    Summary
    Predicted to enable protein homodimerization activity and 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 several cellular components, including cytosol; nuclear lumen; and perinuclear region of cytoplasm. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. Is expressed in nervous system and neural retina. Human ortholog(s) of this gene implicated in cold-induced sweating syndrome 3 and retinitis pigmentosa 42. Orthologous to human KLHL7 (kelch like family member 7). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in CNS E18 (RPKM 23.6), CNS E14 (RPKM 20.3) and 16 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Klhl7 in Genome Data Viewer
    Location:
    5 A3; 5 10.67 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (24305563..24368363)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (24100565..24163369)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene hyccin PI4KA lipid kinase complex subunit 1 Neighboring gene STARR-positive B cell enhancer ABC_E848 Neighboring gene ribosomal protein L11 pseudogene Neighboring gene STARR-seq mESC enhancer starr_12627 Neighboring gene STARR-positive B cell enhancer ABC_E6313 Neighboring gene STARR-seq mESC enhancer starr_12628 Neighboring gene predicted gene, 18038 Neighboring gene gamma-aminobutyric acid (GABA) A receptor-associated protein-like 2 pseudogene Neighboring gene STARR-seq mESC enhancer starr_12630 Neighboring gene STARR-seq mESC enhancer starr_12632 Neighboring gene nucleoporin 42 Neighboring gene STARR-seq mESC enhancer starr_12633 Neighboring gene heat shock protein 8 pseudogene

    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. Spatiotemporal profile of postsynaptic interactomes integrates components of complex brain disorders. Li J, et al. Nat Neurosci, 2017 Aug. PMID 28671696, Free PMC Article
    2. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article
    3. EUCOMM--the European conditional mouse mutagenesis program. Friedel RH, et al. Brief Funct Genomic Proteomic, 2007 Sep. PMID 17967808
    4. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, et al. Development, 2000 Apr. PMID 10725249
    5. BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Stryke D, et al. Nucleic Acids Res, 2003 Jan 1. PMID 12520002, Free PMC Article

    See all (19) 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) 
    • Targeted (2) 

    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 identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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
    		  
    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 cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    kelch-like protein 7
    Names
    BTB/POZ domain containing protein

    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_001161800.1 → NP_001155272.1  kelch-like protein 7 isoform 2

      See identical proteins and their annotated locations for NP_001155272.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC118010
      Consensus CDS
      CCDS51432.1
      UniProtKB/TrEMBL
      A0A0G2JF30, G3UW75
      Related
      ENSMUSP00000129461.2, ENSMUST00000163409.5
      Conserved Domains (6) summary
      smart00612
      Location:383 → 430
      Kelch; Kelch domain
      smart00225
      Location:45 → 140
      BTB; Broad-Complex, Tramtrack and Bric a brac
      sd00038
      Location:326 → 368
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:34 → 138
      BTB; BTB/POZ domain
      pfam01344
      Location:420 → 462
      Kelch_1; Kelch motif
      pfam07707
      Location:146 → 248
      BACK; BTB And C-terminal Kelch

    2. NM_026448.3 → NP_080724.2  kelch-like protein 7 isoform 1

      See identical proteins and their annotated locations for NP_080724.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK083358, BB841624, BQ176920
      Consensus CDS
      CCDS19114.1
      UniProtKB/Swiss-Prot
      Q8BUL5, Q9CZP4
      Related
      ENSMUSP00000030841.6, ENSMUST00000030841.10
      Conserved Domains (5) summary
      PHA03098
      Location:37 → 577
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:372 → 416
      Kelch; KELCH repeat [structural motif]
      cd18237
      Location:23 → 148
      BTB_POZ_KLHL7; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 7 (KLHL7)
      cd18447
      Location:140 → 237
      BACK_KLHL7; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 7 (KLHL7)
      pfam01344
      Location:371 → 416
      Kelch_1; 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_000071.7 Reference GRCm39 C57BL/6J

      Range
      24305563..24368363
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006535753.5 → XP_006535816.1  kelch-like protein 7 isoform X1

      Conserved Domains (4) summary
      PHA03098
      Location:5 → 506
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:301 → 345
      Kelch; KELCH repeat [structural motif]
      cd18447
      Location:69 → 166
      BACK_KLHL7; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 7 (KLHL7)
      pfam01344
      Location:300 → 345
      Kelch_1; Kelch motif

    RNA

    1. XR_880834.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BUL5.1 GenPept UniProtKB/Swiss-Prot:Q8BUL5

    Gene LinkOut

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

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