AKAP8L
Description
The AKAP8L (A-kinase anchoring protein 8 like) is a protein-coding gene located on chromosome 19.
AKAP8L (A-kinase anchor protein 8-like) is a protein encoded by the AKAP8L gene in humans. It has been shown to interact with DHX9 and Thymopoietin. AKAP8L is involved in various cellular processes, including gene expression, nuclear transport, cell cycle regulation, and DNA replication.
AKAP8L plays a role in constitutive transport element (CTE)-mediated gene expression by associating with DHX9, leading to increased CTE-dependent nuclear unspliced mRNA export. It is proposed to target PRKACA to the nucleus but does not appear to be involved in binding the regulatory subunit II of PKA. AKAP8L may be involved in nuclear envelope breakdown and chromatin condensation, potentially anchoring nuclear membranes to chromatin during interphase and releasing them during mitosis. It may also regulate the initiation phase of DNA replication when associated with TMPO isoform Beta. AKAP8L is required for the G2/M transition and histone deacetylation during mitosis, recruiting HDAC3 to chromatin, leading to deacetylation and subsequent phosphorylation of histone H3 at 'Ser-10'. This function appears to be redundant with AKAP8. AKAP8L may also be involved in regulating pre-mRNA splicing.
AKAP8L is also known as HA95, HAP95, NAKAP, NAKAP95.
Associated Diseases
- lysosomal storage disease
- Parkinson disease
- multiple sclerosis
- Alzheimer disease
- cancer
- thrombocytopenia 7
- thrombocytopenia 4
- macrothrombocytopenia, isolated, 2, autosomal dominant
- beta-thalassemia-X-linked thrombocytopenia syndrome
- platelet-type bleeding disorder 15
- X-linked sideroblastic anemia 1
