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    Myot myotilin [ Rattus norvegicus (Norway rat) ]

    Gene ID: 291605, updated on 9-Dec-2024

    Summary

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    Symbol
    Myotprovided by RGD
    Full Name
    myotilinprovided by RGD
    Primary source
    RGD:1310569
    See related
    EnsemblRapid:ENSRNOG00000047186 AllianceGenome:RGD:1310569
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Ttid
    Summary
    Predicted to enable alpha-actinin binding activity and cell-cell adhesion mediator activity. Predicted to be involved in axon guidance; dendrite self-avoidance; and homophilic cell adhesion via plasma membrane adhesion molecules. Predicted to be located in Z disc. Predicted to be active in axon and plasma membrane. Human ortholog(s) of this gene implicated in muscular dystrophy and myofibrillar myopathy 3. Orthologous to human MYOT (myotilin). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward (RPKM 5385.6) See more
    Orthologs
    human mouse all
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    Genomic context

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    See Myot in Genome Data Viewer
    Location:
    18q11
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 18 NC_086036.1 (36956119..36975728)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 18 NC_051353.1 (36705244..36724849)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 18 NC_005117.4 (35573978..35593541)

    Chromosome 18 - NC_086036.1Genomic Context describing neighboring genes Neighboring gene glyceraldehyde-3-phosphate dehydrogenase-like Neighboring gene serine protease inhibitor Kazal-type 11-like Neighboring gene U6 spliceosomal RNA Neighboring gene U7 small nuclear RNA

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hauser MA, et al. Hum Mol Genet, 2000 Sep 1. PMID 10958653
    2. A class III PDZ binding motif in the myotilin and FATZ families binds enigma family proteins: a common link for Z-disc myopathies. von Nandelstadh P, et al. Mol Cell Biol, 2009 Feb. PMID 19047374, Free PMC Article
    3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables alpha-actinin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables cell-cell adhesion mediator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in dendrite self-avoidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Z disc ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    myotilin
    Names
    titin immunoglobulin domain protein (myotilin)

    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_001106148.1 → NP_001099618.1  myotilin

      See identical proteins and their annotated locations for NP_001099618.1

      Status: PROVISIONAL

      Source sequence(s)
      CH474178
      UniProtKB/TrEMBL
      A6KUC3
      Conserved Domains (3) summary
      cd00096
      Location:270 → 335
      Ig; Immunoglobulin domain
      cd05892
      Location:364 → 438
      Ig_Myotilin_C; C-terminal immunoglobulin (Ig)-like domain of myotilin
      pfam07679
      Location:248 → 338
      I-set; Immunoglobulin I-set 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_086036.1 Reference GRCr8

      Range
      36956119..36975728
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006254666.5 → XP_006254728.1  myotilin isoform X1

      See identical proteins and their annotated locations for XP_006254728.1

      UniProtKB/TrEMBL
      M0RCF7
      Conserved Domains (3) summary
      cd00096
      Location:249 → 252
      Ig; Ig strand A [structural motif]
      cd05892
      Location:348 → 439
      IgI_Myotilin_C; C-terminal immunoglobulin (Ig)-like domain of myotilin; member of the I-set of Ig superfamily (IgSF) domains
      cl11960
      Location:249 → 339
      Ig; Immunoglobulin domain

    2. XM_006254668.5 → XP_006254730.1  myotilin isoform X2

      See identical proteins and their annotated locations for XP_006254730.1

      UniProtKB/TrEMBL
      A6KUC3
      Related
      ENSRNOP00000066839.3, ENSRNOT00000070817.4
      Conserved Domains (3) summary
      cd00096
      Location:270 → 335
      Ig; Immunoglobulin domain
      cd05892
      Location:364 → 438
      Ig_Myotilin_C; C-terminal immunoglobulin (Ig)-like domain of myotilin
      pfam07679
      Location:248 → 338
      I-set; Immunoglobulin I-set domain

    3. XM_006254667.5 → XP_006254729.1  myotilin isoform X1

      See identical proteins and their annotated locations for XP_006254729.1

      UniProtKB/TrEMBL
      M0RCF7
      Conserved Domains (3) summary
      cd00096
      Location:249 → 252
      Ig; Ig strand A [structural motif]
      cd05892
      Location:348 → 439
      IgI_Myotilin_C; C-terminal immunoglobulin (Ig)-like domain of myotilin; member of the I-set of Ig superfamily (IgSF) domains
      cl11960
      Location:249 → 339
      Ig; Immunoglobulin domain
    Nucleotide Protein Strain
    Heading Accession and Version

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