MYOT

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Myotilin
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MYOT
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)

NM_006790
NM_001135940
NM_001300911

NM_001033621

RefSeq (protein)

NP_001129412
NP_001287840
NP_006781

NP_001028793

Location (UCSC)Chr 5: 137.87 – 137.89 MbChr 18: 44.47 – 44.49 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Myotilin is a protein that in humans is encoded by the MYOT gene.[5][6][7] Myotilin (myofibrillar titin-like protein) also known as TTID (TiTin Immunoglobulin Domain) is a muscle protein that is found within the Z-disc of sarcomeres.

Structure

Myotilin is a 55.3 kDa protein composed of 496 amino acids.

Function

Myotilin is a structural protein that, along with

alpha-actinin and Z-disc titin, showing the striated pattern typical of sarcomeric proteins. Targeted disruption of the myotilin gene in mice does not cause significant alterations in muscle function.[16] On the other hand, transgenic mice with mutated myotilin develop muscle dystrophy.[17]

Clinical significance

Myotilin is mutated in various forms of muscular dystrophy: Limb-Girdle Muscular Dystrophy type 1A (LGMD1A), Myofibrillar Myopathy (MFM), Spheroid Body Myopathy and Distal Myopath.[11] The mechanism underlying the pathology is still under investigation. It has been shown that actin binding properties of myotilin housing pathogenic mutations (Ser55Phe, Thr57Ile, Ser60Cys, and Ser95Ile) are normal,[18] albeit with a slower rate of degradation.[19] Surprisingly, YFP-fusion constructs of myotilin mutants (Ser55Phe, Ser55Ile, Thr57Ile, Ser60Cys, Ser60Phe, Ser95Ile, Arg405Lys) localized normally to Z-discs and exhibited normal dynamics in muscle cells.[20]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000120729 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024471 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. PMID 10486214
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  7. ^ "Entrez Gene: MYOT myotilin".
  8. ^ "Myotilin protein information". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). Archived from the original on 2015-09-24. Retrieved 2015-03-23.
  9. S2CID 16176213
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Further reading

External links