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    Klhl1 kelch-like 1 [ Mus musculus (house mouse) ]

    Gene ID: 93688, updated on 12-May-2024

    Summary

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    Official Symbol
    Klhl1provided by MGI
    Official Full Name
    kelch-like 1provided by MGI
    Primary source
    MGI:MGI:2136335
    See related
    Ensembl:ENSMUSG00000022076 AllianceGenome:MGI:2136335
    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
    mKIAA1490
    Summary
    Predicted to enable actin binding activity. Acts upstream of or within adult walking behavior; cerebellar Purkinje cell layer development; and dendrite development. Located in dendrite and neuronal cell body. Is expressed in central nervous system and extrinsic ocular muscle. Orthologous to human KLHL1 (kelch like family member 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in CNS E18 (RPKM 3.1), whole brain E14.5 (RPKM 2.5) and 5 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Klhl1 in Genome Data Viewer
    Location:
    14 E2.1; 14 46.92 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (96342695..96756525, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (96105265..96519034, complement)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene AFG3(ATPase family gene 3)-like 1 pseudogene Neighboring gene methylmalonic aciduria cblC type, with homocystinuria pseudogene Neighboring gene predicted gene, 24043 Neighboring gene predicted gene, 25133 Neighboring gene STARR-seq mESC enhancer starr_37408 Neighboring gene STARR-seq mESC enhancer starr_37409 Neighboring gene guanine nucleotide binding protein (G protein), beta 1, pseudogene 2

    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. Genetic Deletion of KLHL1 Leads to Hyperexcitability in Hypothalamic POMC Neurons and Lack of Electrical Responses to Leptin. Perissinotti PP, et al. Front Neurosci, 2021. PMID 34566565, Free PMC Article
    2. Calcium current homeostasis and synaptic deficits in hippocampal neurons from Kelch-like 1 knockout mice. Perissinotti PP, et al. Front Cell Neurosci, 2014. PMID 25610372, Free PMC Article
    3. Kelch-like 1 protein upregulates T-type currents by an actin-F dependent increase in α(1H) channels via the recycling endosome. Aromolaran KA, et al. Channels (Austin), 2009 Nov. PMID 19806008
    4. Process elongation of oligodendrocytes is promoted by the Kelch-related protein MRP2/KLHL1. Jiang S, et al. J Biol Chem, 2007 Apr 20. PMID 17324934
    5. The KLHL1-antisense transcript ( KLHL1AS) is evolutionarily conserved. Benzow KA, et al. Mamm Genome, 2002 Mar. PMID 11919683

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KLHL1 requires actin-polymerization to increase T-Type Calcium Channel alpha(1H) currents
      Title: Kelch-like 1 protein upregulates T-type currents by an actin-F dependent increase in α(1H) channels via the recycling endosome.
    2. KLHL1 interacts with Cav3.2 and modulates T-type calcium currents by increasing current deactivation kinetics and current density and calcium influx.
      Title: T-type current modulation by the actin-binding protein Kelch-like 1.
    3. Dlk1 is required to prevent premature expression of Dat in meso-diencephalic dopamine neuronal precursors as part of the multifaceted process of neuronal differentiation driven by Nurr1 and Pitx3.
      Title: Identification of Dlk1, Ptpru and Klhl1 as novel Nurr1 target genes in meso-diencephalic dopamine neurons.
    4. KLHL! was widely distributed throughout the mouse brain. In the mouse testis, Sca8 transcript colocalized with Klhl1 mRNA in the spermatogenic cells.
      Title: SCA8 mRNA expression suggests an antisense regulation of KLHL1 and correlates to SCA8 pathology.
    5. MRP2/KLHL1 has a role, through its interaction with actin, in the process elongation of oligodendrocytes
      Title: Process elongation of oligodendrocytes is promoted by the Kelch-related protein MRP2/KLHL1.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1490

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within adult walking behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cerebellar Purkinje cell layer development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in dendrite development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within dendrite development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within locomotory behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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 cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in dendrite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    kelch-like protein 1
    Names
    kelch-l like

    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_053105.3 → NP_444335.2  kelch-like protein 1

      See identical proteins and their annotated locations for NP_444335.2

      Status: VALIDATED

      Source sequence(s)
      AC131920, AC131989, AC154580, CT025590
      Consensus CDS
      CCDS27308.1
      UniProtKB/Swiss-Prot
      Q505E9, Q9JI74
      UniProtKB/TrEMBL
      Q8CCY1
      Related
      ENSMUSP00000022666.8, ENSMUST00000022666.9
      Conserved Domains (6) summary
      smart00612
      Location:704 → 748
      Kelch; Kelch domain
      PHA03098
      Location:209 → 731
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:499 → 542
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:205 → 308
      BTB; BTB/POZ domain
      pfam01344
      Location:498 → 543
      Kelch_1; Kelch motif
      pfam07707
      Location:317 → 416
      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_000080.7 Reference GRCm39 C57BL/6J

      Range
      96342695..96756525 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JI74.2 GenPept UniProtKB/Swiss-Prot:Q9JI74

    Gene LinkOut

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

    Chemical Information
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