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TRIM63

Chr 1p36.11

tripartite motif containing 63

Aliases:
MURF-1, IRF, SMRZ
MANE:
ENST00000374272.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Hypertrophic cardiomyopathy

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • cardiomyopathy, familial hypertrophic, 31

    0.62
  • hypertrophic cardiomyopathy

    0.53
  • hereditary disease

    0.47
  • Abnormality of the cardiovascular system

    0.46
  • idiopathic cardiomyopathy

    0.34
  • familial hypertrophic cardiomyopathy

    0.17
  • type 2 diabetes mellitus

    0.16
  • neoplasm

    0.10
  • preeclampsia

    0.09
  • spinal muscular atrophy, facioscapulohumeral type

    0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

E3 ubiquitin-protein ligase TRIM63

E3 ubiquitin ligase. Mediates the ubiquitination and subsequent proteasomal degradation of CKM, GMEB1 and HIBADH. Regulates the proteasomal degradation of muscle proteins under amino acid starvation, where muscle protein is catabolized to provide other organs with amino acids. Inhibits de novo skeletal muscle protein synthesis under amino acid starvation. Regulates proteasomal degradation of cardiac troponin I/TNNI3 and probably of other sarcomeric-associated proteins. May play a role in striated muscle atrophy and hypertrophy by regulating an anti-hypertrophic PKC-mediated signaling pathway. May regulate the organization of myofibrils through TTN in muscle cells

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.