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    Mkln1 muskelin 1, intracellular mediator containing kelch motifs [ Mus musculus (house mouse) ]

    Gene ID: 27418, updated on 18-Sep-2024

    Summary

    Official Symbol
    Mkln1provided by MGI
    Official Full Name
    muskelin 1, intracellular mediator containing kelch motifsprovided by MGI
    Primary source
    MGI:MGI:1351638
    See related
    Ensembl:ENSMUSG00000025609 AllianceGenome:MGI:1351638
    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
    A130067F06Rik
    Summary
    Enables identical protein binding activity. Involved in actin cytoskeleton reorganization; cell-matrix adhesion; and regulation of cell shape. Located in several cellular components, including cell cortex; nucleoplasm; and ruffle. Is expressed in several structures, including alimentary system; limb; nervous system; sensory organ epithelium; and vibrissa. Orthologous to human MKLN1 (muskelin 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 7.6), bladder adult (RPKM 7.5) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Mkln1 in Genome Data Viewer
    Location:
    6 A3.3; 6 12.57 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (31333833..31493744)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (31398828..31516809)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene long non-protein coding RNA, Trp53 induced transcript Neighboring gene STARR-positive B cell enhancer mm9_chr6:31119400-31119700 Neighboring gene STARR-positive B cell enhancer ABC_E8097 Neighboring gene proteasome (prosome, macropain) subunit, alpha type 3 pseudogene Neighboring gene STARR-seq mESC enhancer starr_15481 Neighboring gene RIKEN cDNA 2210408F21 gene Neighboring gene STARR-seq mESC enhancer starr_15482 Neighboring gene STARR-seq mESC enhancer starr_15483 Neighboring gene STARR-positive B cell enhancer ABC_E4819 Neighboring gene predicted gene, 38782 Neighboring gene STARR-seq mESC enhancer starr_15487 Neighboring gene muskelin 1, intracellular mediator containing kelch motifs, opposite strand Neighboring gene STARR-seq mESC enhancer starr_15489 Neighboring gene STARR-seq mESC enhancer starr_15490 Neighboring gene podocalyxin-like Neighboring gene predicted gene 6117

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in GABA-ergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in GABA-ergic synapse IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    is_active_in GABA-ergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in cell cortex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in postsynaptic endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in postsynaptic specialization membrane of symmetric synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in postsynaptic specialization membrane of symmetric synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in ruffle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of ubiquitin ligase complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of ubiquitin ligase complex ISO
    Inferred from Sequence Orthology
    more info
     

    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_001429318.1NP_001416247.1  muskelin isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC132305, AC153837, AC158658
    2. NM_001429319.1NP_001416248.1  muskelin isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC132305, AC153837, AC158658
    3. NM_001429320.1NP_001416249.1  muskelin isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC132305, AC153837, AC158658
    4. NM_001429321.1NP_001416250.1  muskelin isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC132305, AC153837, AC158658
    5. NM_001429322.1NP_001416251.1  muskelin isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC024913, AC132305, AC153837, AC158658
    6. NM_001429323.1NP_001416252.1  muskelin isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC024913, AC132305, AC153837, AC158658
    7. NM_013791.3NP_038819.1  muskelin isoform 1

      See identical proteins and their annotated locations for NP_038819.1

      Status: VALIDATED

      Source sequence(s)
      AC132305, AC153837, AC158658
      Consensus CDS
      CCDS19982.1
      UniProtKB/Swiss-Prot
      O89050
      Related
      ENSMUSP00000026699.9, ENSMUST00000026699.15
      Conserved Domains (5) summary
      smart00668
      Location:206258
      CTLH; C-terminal to LisH motif
      PLN02153
      Location:307475
      PLN02153; epithiospecifier protein
      sd00038
      Location:271323
      Kelch; KELCH repeat [structural motif]
      pfam06588
      Location:12207
      Muskelin_N; Muskelin N-terminus
      pfam13415
      Location:282334
      Kelch_3; Galactose oxidase, central domain

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      31333833..31493744
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036166200.1XP_036022093.1  muskelin isoform X1

      Conserved Domains (5) summary
      smart00668
      Location:178230
      CTLH; C-terminal to LisH motif
      PLN02153
      Location:279447
      PLN02153; epithiospecifier protein
      sd00038
      Location:243295
      Kelch; KELCH repeat [structural motif]
      pfam06588
      Location:6179
      Muskelin_N; Muskelin N-terminus
      pfam13415
      Location:254306
      Kelch_3; Galactose oxidase, central domain
    2. XM_017321605.3XP_017177094.1  muskelin isoform X2

      Conserved Domains (3) summary
      PLN02153
      Location:100268
      PLN02153; epithiospecifier protein
      sd00038
      Location:64116
      Kelch; KELCH repeat [structural motif]
      pfam13415
      Location:75127
      Kelch_3; Galactose oxidase, central domain
    3. XM_030255437.1XP_030111297.1  muskelin isoform X3

      Conserved Domains (2) summary
      PLN02153
      Location:9145
      PLN02153; epithiospecifier protein
      sd00038
      Location:57123
      Kelch; KELCH repeat [structural motif]
    4. XM_036166201.1XP_036022094.1  muskelin isoform X3

      Conserved Domains (2) summary
      PLN02153
      Location:9145
      PLN02153; epithiospecifier protein
      sd00038
      Location:57123
      Kelch; KELCH repeat [structural motif]