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)