INTS13

integrator complex subunit 13

Ensembl:
ENSG00000064102
UniProt:
Q9NVM9
OMIM:
615079
Synonyms:
ASUN, C12ORF11, FLJ10637, MAT89BB, NET48

Cilia effects upon perturbation of INTS13

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Loss of cilia

Subcellular localization

cilia associated gene

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • T cell biology
  • Reproduction & sperm
  • Cell migration & adhesion
  • Transcription regulation

Function

Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Mutations in INTS13 cause an autosomal recessive ciliopathy, which reveals key interactions between components of the Integrator complex ( 36229431). Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Accordingly, its knockdown in Xenopus embryos leads to motile cilia anomalies. INTS13 depletion leads to a loss of primary cilia and broad transcriptional perturbation of ciliary genes. (36229431) INTS13 acts synergistically with transcription factors … the aggravated effect on cilia loss by simultaneous depletion of INTS13 … directly linked to sensory cilia formation(38906142)