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

    Gene ID: 27418, updated on 12-May-2024

    Summary

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    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
    human all
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    Genomic context

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    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

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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. Structure of mouse muskelin discoidin domain and biochemical characterization of its self-association. Kim KH, et al. Acta Crystallogr D Biol Crystallogr, 2014 Nov. PMID 25372678
    2. Muskelin regulates actin filament- and microtubule-based GABA(A) receptor transport in neurons. Heisler FF, et al. Neuron, 2011 Apr 14. PMID 21482357, Free PMC Article
    3. Neuronal expression of muskelin in the rodent central nervous system. Tagnaouti N, et al. BMC Neurosci, 2007 May 2. PMID 17474996, Free PMC Article
    4. Regulation of post-translational modifications of muskelin by protein kinase C. Prag S, et al. Int J Biochem Cell Biol, 2007. PMID 17049906
    5. Molecular analysis of muskelin identifies a conserved discoidin-like domain that contributes to protein self-association. Prag S, et al. Biochem J, 2004 Jul 15. PMID 15084145, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Circular RNA MKLN1 promotes epithelial-mesenchymal transition in pulmonary fibrosis by regulating the miR-26a/b-5p/CDK8 axis in human alveolar epithelial cells and mice models.
      Title: Circular RNA MKLN1 promotes epithelial-mesenchymal transition in pulmonary fibrosis by regulating the miR-26a/b-5p/CDK8 axis in human alveolar epithelial cells and mice models.
    2. The first crystal structure of mouse muskelin discoidin domain (MK-DD) is reported at 1.55 A resolution, which reveals a distorted eight-stranded beta-barrel with two short alpha-helices at one end of the barrel.
      Title: Structure of mouse muskelin discoidin domain and biochemical characterization of its self-association.
    3. This novel interaction between TBX20b and MKLN1 may help elucidate new regulatory mechanisms within heart development.
      Title: Characterization of the novel interaction between muskelin and TBX20, a critical cardiogenic transcription factor.
    4. Muskelin regulates retrograde actin filament and microtubule-dependent GABA-A receptor trafficking.
      Title: Muskelin regulates actin filament- and microtubule-based GABA(A) receptor transport in neurons.
    5. These novel findings identify a role for muskelin-RanBP9 complex in pathways that integrate cell morphology regulation and nucleocytoplasmic communication.
      Title: Novel role of the muskelin-RanBP9 complex as a nucleocytoplasmic mediator of cell morphology regulation.
    6. expression of muskelin during embryonic development in muscle tissues, multiple epithelia & brain; findings show PKC activation or inhibition regulates the profile of endogenous muskelin isoelectric variants; muskelin is a substrate for PKCalpha in vitro
      Title: Regulation of post-translational modifications of muskelin by protein kinase C.
    7. Muskelin represents a multifunctional protein associated with membranes and/or large protein complexes in most neurons of the central nervous system.
      Title: Neuronal expression of muskelin in the rodent central nervous system.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    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 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
    		  
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell-matrix adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neurotransmitter receptor transport postsynaptic membrane to endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in neurotransmitter receptor transport postsynaptic membrane to endosome IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in neurotransmitter receptor transport postsynaptic membrane to endosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of receptor internalization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in vesicle-mediated transport in synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in vesicle-mediated transport in synapse IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in vesicle-mediated transport in synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of ubiquitin ligase complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    muskelin

    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_001429318.1 → NP_001416247.1  muskelin isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC132305, AC153837, AC158658

    2. NM_001429319.1 → NP_001416248.1  muskelin isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC132305, AC153837, AC158658

    3. NM_001429320.1 → NP_001416249.1  muskelin isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC132305, AC153837, AC158658

    4. NM_001429321.1 → NP_001416250.1  muskelin isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC132305, AC153837, AC158658

    5. NM_001429322.1 → NP_001416251.1  muskelin isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC024913, AC132305, AC153837, AC158658

    6. NM_001429323.1 → NP_001416252.1  muskelin isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC024913, AC132305, AC153837, AC158658

    7. NM_013791.3 → NP_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:206 → 258
      CTLH; C-terminal to LisH motif
      PLN02153
      Location:307 → 475
      PLN02153; epithiospecifier protein
      sd00038
      Location:271 → 323
      Kelch; KELCH repeat [structural motif]
      pfam06588
      Location:12 → 207
      Muskelin_N; Muskelin N-terminus
      pfam13415
      Location:282 → 334
      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_036166200.1 → XP_036022093.1  muskelin isoform X1

      Conserved Domains (5) summary
      smart00668
      Location:178 → 230
      CTLH; C-terminal to LisH motif
      PLN02153
      Location:279 → 447
      PLN02153; epithiospecifier protein
      sd00038
      Location:243 → 295
      Kelch; KELCH repeat [structural motif]
      pfam06588
      Location:6 → 179
      Muskelin_N; Muskelin N-terminus
      pfam13415
      Location:254 → 306
      Kelch_3; Galactose oxidase, central domain

    2. XM_017321605.3 → XP_017177094.1  muskelin isoform X2

      Conserved Domains (3) summary
      PLN02153
      Location:100 → 268
      PLN02153; epithiospecifier protein
      sd00038
      Location:64 → 116
      Kelch; KELCH repeat [structural motif]
      pfam13415
      Location:75 → 127
      Kelch_3; Galactose oxidase, central domain

    3. XM_030255437.1 → XP_030111297.1  muskelin isoform X3

      Conserved Domains (2) summary
      PLN02153
      Location:9 → 145
      PLN02153; epithiospecifier protein
      sd00038
      Location:57 → 123
      Kelch; KELCH repeat [structural motif]

    4. XM_036166201.1 → XP_036022094.1  muskelin isoform X3

      Conserved Domains (2) summary
      PLN02153
      Location:9 → 145
      PLN02153; epithiospecifier protein
      sd00038
      Location:57 → 123
      Kelch; KELCH repeat [structural motif]
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O89050.1 GenPept UniProtKB/Swiss-Prot:O89050

    Gene LinkOut

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

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