TRIM32

tripartite motif containing 32

Tier: Gold Standard Ciliary Genes

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

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

References: PMID:16606853

Subcellular localization

basal body, cytosol, nucleus

References: PMID:28498859

Functional category

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

Function

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