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RLIM

Chr Xq13.2

ring finger protein, LIM domain interacting

Aliases:
NY-REN-43, MGC15161
MANE:
ENST00000332687.11

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Fetal anomalies

    X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
  • Intellectual disability

    X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

  • X-linked non-syndromic intellectual disability

    0.73
  • Intellectual disability

    0.56
  • neurodegenerative disease

    0.43
  • hereditary disease

    0.41
  • non-syndromic X-linked intellectual disability

    0.40
  • complex neurodevelopmental disorder

    0.37
  • Global developmental delay

    0.34
  • prostate cancer

    0.11
  • Familial prostate cancer

    0.11
  • cask-related x-linked intellectual disability

    0.08

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

Protein function (UniProt)

E3 ubiquitin-protein ligase RLIM

E3 ubiquitin-protein ligase that acts as a negative coregulator for LIM homeodomain transcription factors by mediating the ubiquitination and subsequent degradation of LIM cofactors LDB1 and LDB2 and by mediating the recruitment the SIN3a/histone deacetylase corepressor complex (PubMed:29742418, PubMed:33953269). Ubiquitination and degradation of LIM cofactors LDB1 and LDB2 allows DNA-bound LIM homeodomain transcription factors to interact with other protein partners such as RLIM. Plays a role in telomere length-mediated growth suppression by mediating the ubiquitination and degradation of TERF1. By targeting ZFP42/REX1 for degradation, acts as an activator of random inactivation of X chromosome in the embryo, a stochastic process in which one X chromosome is inactivated to minimize sex-related dosage differences of X-encoded genes in somatic cells of female placental mammals. E3 ubiquitin-protein ligase is required for proper regulation of neural cell differentiation from embryonic stem cells (By similarity)

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.