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

Gene ID: 246293, updated on 28-Oct-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, Oct 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 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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