ANKRD17
Function
Could play pivotal roles in cell cycle and DNA regulation (PubMed:19150984). Involved in innate immune defense against viruse by positively regulating the viral dsRNA receptors DDX58 and IFIH1 signaling pathways (PubMed:22328336). Involves in NOD2- and NOD1-mediated responses to bacteria suggesting a role in innate antibacterial immune pathways too (PubMed:23711367). Target of enterovirus 71 which is the major etiological agent of HFMD (hand, foot and mouth disease) (PubMed:17276651). Could play a central role for the formation and/or maintenance of the blood vessels of the circulation system (By similarity).
Involvement in disease
Chopra-Amiel-Gordon syndrome
CAGS
An autosomal dominant disorder characterized by developmental delay, intellectual disability, speech delay, and dysmorphic facial features. Additional features include growth failure, feeding difficulties, non-specific brain abnormalities, ophthalmological abnormalities, gait and balance disturbance, joint hypermobility, and predisposition to recurrent infections.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated by CDK2.
Tissue Specificity
Ubiquitously expressed.
Cellular localization
- Cytoplasm
- Nucleus
- Detected around the nucleolus. Localized on chromatin in a cell cycle-dependent manner.
Alternative names
GTAR, KIAA0697, ANKRD17, Ankyrin repeat domain-containing protein 17, Gene trap ankyrin repeat protein, Serologically defined breast cancer antigen NY-BR-16