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    MYOT myotilin [ Homo sapiens (human) ]

    Gene ID: 9499, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MYOTprovided by HGNC
    Official Full Name
    myotilinprovided by HGNC
    Primary source
    HGNC:HGNC:12399
    See related
    Ensembl:ENSG00000120729 MIM:604103; AllianceGenome:HGNC:12399
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MFM3; TTID; TTOD; LGMD1; LGMD1A
    Summary
    This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]
    Expression
    Biased expression in prostate (RPKM 16.8), esophagus (RPKM 14.9) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MYOT in Genome Data Viewer
    Location:
    5q31.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (137867860..137887851)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (138394286..138414287)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (137203549..137223540)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene neuropeptide Y receptor Y6 (pseudogene) Neighboring gene uncharacterized LOC107986368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23189 Neighboring gene PKD2L2 divergent transcript Neighboring gene ReSE screen-validated silencer GRCh37_chr5:137199613-137199779 Neighboring gene polycystin 2 like 2, transient receptor potential cation channel Neighboring gene MPRA-validated peak5488 silencer Neighboring gene family with sequence similarity 13 member B Neighboring gene ReSE screen-validated silencer GRCh37_chr5:137338418-137338597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:137366081-137366582 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23191 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:137367957-137368840 Neighboring gene uncharacterized LOC124901077 Neighboring gene FAM13B antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A novel in-frame deletion in MYOT causes an early adult onset distal myopathy. Guglielmi V, et al. Clin Genet, 2023 Dec. PMID 37553249
    2. Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient. Shalaby S, et al. J Neuropathol Exp Neurol, 2009 Jun. PMID 19458539
    3. Solution structure of the first immunoglobulin domain of human myotilin. Heikkinen O, et al. J Biomol NMR, 2009 Jun. PMID 19418025
    4. Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype? Gamez J, et al. J Neurol Sci, 2009 Feb 15. PMID 19027924, Free PMC Article
    5. Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype. Berciano J, et al. J Neurol Neurosurg Psychiatry, 2008 Feb. PMID 17698502

    See all (51) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel in-frame deletion in MYOT causes an early adult onset distal myopathy.
      Title: A novel in-frame deletion in MYOT causes an early adult onset distal myopathy.
    2. Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish.
      Title: Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish.
    3. Silencing MYOT Expression May Inhibit Autophagy in Human Skeletal Muscle Cells.
      Title: Silencing MYOT Expression May Inhibit Autophagy in Human Skeletal Muscle Cells.
    4. sequence conservation analysis of myotilin shed light on the molecular basis of myotilinopathies and revealed several motifs in Ig domains found also in I-band proteins.
      Title: Conformational plasticity and evolutionary analysis of the myotilin tandem Ig domains.
    5. A French family affected with a late onset proximal and distal muscle weakness and myofibrillar myopathy on muscle pathology, in which the siblings known to be clinically affected were homozygous for the c.179C>T (p.Ser60Phe) myotilin gene mutation is reported.
      Title: Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy.
    6. Describe the first homozygous mutation in the myotilin gene leading to a novel, autosomal recessive subtype of myofibrillar myopathy (MFM).
      Title: Novel recessive myotilin mutation causes severe myofibrillar myopathy.
    7. Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations
      Title: Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations.
    8. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    10. study presents high-resolution structure of the first Ig-domain of myotilin determined with solution state NMR spectroscopy; structure of MyoIg1 exhibits I-type Ig-fold
      Title: Solution structure of the first immunoglobulin domain of human myotilin.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Myofibrillar myopathy 3
    MedGen: C3714934 OMIM: 609200 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables alpha-actinin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables axon guidance receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of muscle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axon guidance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in muscle contraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in synapse organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Z disc IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in actin cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sarcolemma IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    myotilin
    Names
    57 kDa cytoskeletal protein
    myofibrillar titin-like Ig domains protein
    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.

    Genomic

    1. NG_008894.1 RefSeqGene

      Range
      5001..24996
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_201

    mRNA and Protein(s)

    1. NM_001135940.2 → NP_001129412.1  myotilin isoform b

      See identical proteins and their annotated locations for NP_001129412.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate splice site in the 5' region, which results in translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (b) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AF133820, AK300088
      Consensus CDS
      CCDS47268.1
      UniProtKB/Swiss-Prot
      Q9UBF9
      Related
      ENSP00000391185.2, ENST00000421631.6
      Conserved Domains (3) summary
      cd05892
      Location:182 → 256
      Ig_Myotilin_C; C-terminal immunoglobulin (Ig)-like domain of myotilin
      pfam07679
      Location:66 → 156
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:65 → 149
      Ig; Immunoglobulin domain

    2. NM_001300911.2 → NP_001287840.1  myotilin isoform c

      See identical proteins and their annotated locations for NP_001287840.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal segment in the 5' region, which results in translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (c) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AF133820, AK300076, DA896167
      Consensus CDS
      CCDS75309.1
      UniProtKB/TrEMBL
      B4DT68
      Related
      ENSP00000426281.1, ENST00000515645.1
      Conserved Domains (3) summary
      cd05892
      Location:251 → 325
      Ig_Myotilin_C; C-terminal immunoglobulin (Ig)-like domain of myotilin
      pfam07679
      Location:135 → 225
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:134 → 218
      Ig; Immunoglobulin domain

    3. NM_006790.3 → NP_006781.1  myotilin isoform a

      See identical proteins and their annotated locations for NP_006781.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AF133820, BC005376, DA896167
      Consensus CDS
      CCDS4194.1
      UniProtKB/Swiss-Prot
      A0A4R6, B4DT79, Q9UBF9
      UniProtKB/TrEMBL
      A0A0C4DFM5, A0A0S2Z522
      Related
      ENSP00000239926.4, ENST00000239926.9
      Conserved Domains (3) summary
      cd05892
      Location:366 → 440
      Ig_Myotilin_C; C-terminal immunoglobulin (Ig)-like domain of myotilin
      pfam07679
      Location:250 → 340
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:249 → 333
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      137867860..137887851
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010061.2 → XP_016865550.1  myotilin isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      138394286..138414287
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353825.1 → XP_054209800.1  myotilin isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBF9.2 GenPept UniProtKB/Swiss-Prot:Q9UBF9

    Gene LinkOut

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

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