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

Gene ID: 27418, updated on 28-Oct-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 several processes, including cell-matrix adhesion; neurotransmitter receptor transport postsynaptic membrane to endosome; and regulation of cell shape. Located in several cellular components, including cell cortex; nucleoplasm; and ruffle. Is active in GABA-ergic synapse; postsynaptic endosome membrane; and postsynaptic specialization membrane of symmetric synapse. Is expressed in several structures, including alimentary system; heart; limb; nervous system; and sensory organ epithelium. Orthologous to human MKLN1 (muskelin 1). [provided by Alliance of Genome Resources, Oct 2024]
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 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. Regulation of post-translational modifications of muskelin by protein kinase C. Prag S, et al. Int J Biochem Cell Biol, 2007. PMID 17049906
  4. Neuronal expression of muskelin in the rodent central nervous system. Tagnaouti N, et al. BMC Neurosci, 2007 May 2. PMID 17474996, Free PMC Article
  5. 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. Zhu Y, et al. Arch Toxicol, 2024 May. PMID 38460002, Free PMC Article

See all (37) 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
  
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
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 regulation of receptor internalization ISS
Inferred from Sequence or Structural Similarity
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 
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
  

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

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