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    Mkln1 muskelin 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 83536, updated on 4-Jan-2025

    Summary

    Symbol
    Mkln1provided by RGD
    Full Name
    muskelin 1provided by RGD
    Primary source
    RGD:620076
    See related
    EnsemblRapid: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, Jan 2025]
    Expression
    Biased expression in Muscle (RPKM 348.8), Kidney (RPKM 348.5) and 9 other tissues See more
    Orthologs
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    Genomic context

    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

    Expression

    • 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

    General gene information

    Readthrough Mkln1

    Included gene: Vamp5l

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization  
    involved_in actin cytoskeleton organization  
    involved_in actin cytoskeleton organization  
    involved_in cell-matrix adhesion  
    involved_in cell-matrix adhesion  
    involved_in cell-matrix adhesion  
    involved_in neurotransmitter receptor transport postsynaptic membrane to endosome  
    involved_in neurotransmitter receptor transport postsynaptic membrane to endosome  
    involved_in regulation of cell shape  
    involved_in regulation of cell shape  
    involved_in regulation of cell shape  
    involved_in regulation of receptor internalization PubMed 
    involved_in vesicle-mediated transport in synapse  
    involved_in vesicle-mediated transport in synapse  
    Items 1 - 20 of 23
    Component Evidence Code Pubs
    located_in GABA-ergic synapse  
    is_active_in GABA-ergic synapse  
    located_in cell cortex  
    located_in cell cortex  
    located_in cell cortex  
    is_active_in cytoplasm  
    located_in cytoplasm  
    located_in cytoplasm  
    located_in cytosol PubMed 
    located_in cytosol  
    located_in cytosol  
    located_in cytosol  
    located_in nucleoplasm  
    located_in nucleoplasm  
    located_in postsynaptic endosome membrane  
    is_active_in postsynaptic endosome membrane  
    located_in postsynaptic specialization membrane of symmetric synapse  
    is_active_in postsynaptic specialization membrane of symmetric synapse  
    located_in ruffle  
    located_in ruffle  
    located_in ruffle  
    part_of ubiquitin ligase complex  
    part_of ubiquitin ligase complex  
    Items 1 - 20 of 23

    General protein information

    Preferred Names
    muskelin
    Names
    muskelin 1, intracellular mediator containing kelch motifs

    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_001428641.1NP_001415570.1  muskelin isoform 2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000004
    2. NM_001428642.1NP_001415571.1  muskelin isoform 3

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000004
      UniProtKB/TrEMBL
      A0A0G2K9Q2, A0A8I5Y5I8
    3. NM_001428643.1NP_001415572.1  muskelin isoform 4

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000004
      UniProtKB/TrEMBL
      A0A0G2K9Q2
    4. NM_001429298.1NP_001416227.1  muskelin isoform 5

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000004
      UniProtKB/TrEMBL
      A0A0G2K9Q2
    5. NM_031359.2NP_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
      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_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_063286758.1XP_063142828.1  muskelin isoform X4

    2. XM_063286756.1XP_063142826.1  muskelin isoform X3

    3. XM_063286757.1XP_063142827.1  muskelin isoform X3

    4. XM_063286761.1XP_063142831.1  muskelin isoform X6

    5. XM_063286759.1XP_063142829.1  muskelin isoform X4

      Related
      ENSRNOP00000103896.1, ENSRNOT00000163527.1
    6. XM_039108443.2XP_038964371.1  muskelin isoform X7

      Related
      ENSRNOP00000098233.2, ENSRNOT00000120594.2
      Conserved Domains (5) summary
      smart00668
      Location:198250
      CTLH; C-terminal to LisH motif
      PLN02153
      Location:299467
      PLN02153; epithiospecifier protein
      sd00038
      Location:263315
      Kelch; KELCH repeat [structural motif]
      pfam06588
      Location:22199
      Muskelin_N; Muskelin N-terminus
      pfam13415
      Location:274326
      Kelch_3; Galactose oxidase, central domain
    7. XM_063286754.1XP_063142824.1  muskelin isoform X1

    8. XM_063286755.1XP_063142825.1  muskelin isoform X2

      Related
      ENSRNOP00000078385.2, ENSRNOT00000111994.2
    9. XM_063286760.1XP_063142830.1  muskelin isoform X5

    10. XM_039108446.2XP_038964374.1  muskelin isoform X8

      Related
      ENSRNOP00000077228.1, ENSRNOT00000113146.2
      Conserved Domains (5) summary
      smart00668
      Location:180232
      CTLH; C-terminal to LisH motif
      PLN02153
      Location:281449
      PLN02153; epithiospecifier protein
      sd00038
      Location:245297
      Kelch; KELCH repeat [structural motif]
      pfam06588
      Location:8181
      Muskelin_N; Muskelin N-terminus
      pfam13415
      Location:256308
      Kelch_3; Galactose oxidase, central domain
    11. XM_039108448.2XP_038964376.1  muskelin isoform X9

      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

    RNA

    1. XR_010065709.1 RNA Sequence

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