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    Mkln1 muskelin 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 83536, updated on 6-Jun-2024

    Summary

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    Symbol
    Mkln1provided by RGD
    Full Name
    muskelin 1provided by RGD
    Primary source
    RGD:620076
    See related
    Ensembl:ENSRNOG00000054514 AllianceGenome:RGD:620076
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Enables protein homodimerization activity. Involved in regulation of receptor internalization. Located in cytosol. Orthologous to human MKLN1 (muskelin 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in Muscle (RPKM 348.8), Kidney (RPKM 348.5) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Mkln1 in Genome Data Viewer
    Location:
    4q22
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 4 NC_086022.1 (60939239..61095214)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 4 NC_051339.1 (59815912..60124047)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 4 NC_005103.4 (58693384..58817924)

    Chromosome 4 - NC_086022.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC120102487 Neighboring gene uncharacterized LOC120102488 Neighboring gene uncharacterized LOC120102486 Neighboring gene peptidylprolyl isomerase D, pseudogene 6 Neighboring gene developmental pluripotency-associated 4, pseudogene 8 Neighboring gene uncharacterized LOC134486572 Neighboring gene podocalyxin-like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Receptor isoform-specific interaction of prostaglandin EP3 receptor with muskelin. Hasegawa H, et al. Biochem Biophys Res Commun, 2000 Sep 16. PMID 11006128
    2. cDNA cloning of human muskelin and localisation of the muskelin (MKLN1) gene to human chromosome 7q32 and mouse chromosome 6 B1/B2 by physical mapping and FISH. Adams JC, et al. Cytogenet Cell Genet, 1999. PMID 10640805
    3. Muskelin, a novel intracellular mediator of cell adhesive and cytoskeletal responses to thrombospondin-1. Adams JC, et al. EMBO J, 1998 Sep 1. PMID 9724633, Free PMC Article
    4. The LisH motif of muskelin is crucial for oligomerization and governs intracellular localization. Delto CF, et al. Structure, 2015 Feb 3. PMID 25579817
    5. Characterization of the novel interaction between muskelin and TBX20, a critical cardiogenic transcription factor. Debenedittis P, et al. Biochem Biophys Res Commun, 2011 Jun 3. PMID 21586270, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Readthrough Mkln1

    Included gene: Vamp5l

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in actin cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in actin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cell-matrix adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell-matrix adhesion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cell-matrix adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neurotransmitter receptor transport postsynaptic membrane to endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of cell shape IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell shape ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of cell shape ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of receptor internalization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vesicle-mediated transport in synapse ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in GABA-ergic synapse ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell cortex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cell cortex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in postsynaptic endosome membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in postsynaptic specialization membrane of symmetric synapse ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ruffle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in ruffle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ruffle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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
    Names
    muskelin 1, intracellular mediator containing kelch motifs

    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_001428641.1 → NP_001415570.1  muskelin isoform 2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000004

    2. NM_001428642.1 → NP_001415571.1  muskelin isoform 3

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000004
      UniProtKB/TrEMBL
      A0A0G2K9Q2, A0A8I5Y5I8

    3. NM_001428643.1 → NP_001415572.1  muskelin isoform 4

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000004
      UniProtKB/TrEMBL
      A0A0G2K9Q2

    4. NM_001429298.1 → NP_001416227.1  muskelin isoform 5

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000004
      UniProtKB/TrEMBL
      A0A0G2K9Q2

    5. NM_031359.2 → NP_112649.1  muskelin isoform 1

      See identical proteins and their annotated locations for NP_112649.1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000004
      UniProtKB/Swiss-Prot
      Q99PV3
      UniProtKB/TrEMBL
      A0A0G2K9Q2, A6IEJ3
      Related
      ENSRNOP00000075084.2, ENSRNOT00000081707.2
      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_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086022.1 Reference GRCr8

      Range
      60939239..61095214
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063286758.1 → XP_063142828.1  muskelin isoform X4

    2. XM_063286756.1 → XP_063142826.1  muskelin isoform X3

    3. XM_063286757.1 → XP_063142827.1  muskelin isoform X3

    4. XM_063286761.1 → XP_063142831.1  muskelin isoform X6

    5. XM_063286759.1 → XP_063142829.1  muskelin isoform X4

    6. XM_039108443.2 → XP_038964371.1  muskelin isoform X7

      Conserved Domains (5) summary
      smart00668
      Location:198 → 250
      CTLH; C-terminal to LisH motif
      PLN02153
      Location:299 → 467
      PLN02153; epithiospecifier protein
      sd00038
      Location:263 → 315
      Kelch; KELCH repeat [structural motif]
      pfam06588
      Location:22 → 199
      Muskelin_N; Muskelin N-terminus
      pfam13415
      Location:274 → 326
      Kelch_3; Galactose oxidase, central domain

    7. XM_063286754.1 → XP_063142824.1  muskelin isoform X1

    8. XM_063286755.1 → XP_063142825.1  muskelin isoform X2

    9. XM_063286760.1 → XP_063142830.1  muskelin isoform X5

    10. XM_039108446.2 → XP_038964374.1  muskelin isoform X8

      Related
      ENSRNOP00000077228.1
      Conserved Domains (5) summary
      smart00668
      Location:180 → 232
      CTLH; C-terminal to LisH motif
      PLN02153
      Location:281 → 449
      PLN02153; epithiospecifier protein
      sd00038
      Location:245 → 297
      Kelch; KELCH repeat [structural motif]
      pfam06588
      Location:8 → 181
      Muskelin_N; Muskelin N-terminus
      pfam13415
      Location:256 → 308
      Kelch_3; Galactose oxidase, central domain

    11. XM_039108448.2 → XP_038964376.1  muskelin isoform X9

      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

    RNA

    1. XR_010065709.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q99PV3.1 GenPept UniProtKB/Swiss-Prot:Q99PV3

    Gene LinkOut

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