TRIM32

tripartite motif containing 32

Ensembl:
ENSG00000119401
UniProt:
Q13049
OMIM:
602290
Synonyms:
BBS11, HT2A, LGMD2H, TATIP

Cilia effects upon perturbation of TRIM32

Ciliogenesis screen results (4 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-9.50) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=676, lfc=-1.91) PMID:30270045

Phenotypes

Human ciliopathy phenotype:
Bardet-Biedl syndrome 11; Bardet-Biedl syndrome

Ciliopathy associations

  • Bardet-Biedl Syndrome

Subcellular localization

basal body, cytosol, nucleus

Functional category

  • Ciliary assembly/disassembly
  • T cell biology
  • Neurogenesis & migration
  • Viral interactions
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Cardiac & muscle development
  • Transcription regulation

Function

I ctivating homozygous mutations cause ciliopathy BBS11 (16606853). Ubiquiti tes NPHP5 which triggers protein delocalization and loss of cilia. Loss of BBS11 causes an accumulation of NPHP5 at the centrosome (28498859).

Model organism evidence

Danio rerio (1 reference)

Although BBS11/TRIM32 represents a RING finger E3 ubiquitin ligase also involved in hereditary forms of muscular dystrophy, NPHP7/Glis2 is a Gli-like transcriptional repressor that localizes to the nucleus, deviating from the ciliary localization of most other ciliopathy-associated gene products.

PMIDs: 24500717