SCYL1
Domain
The protein kinase domain is predicted to be catalytically inactive.
Function
Regulates COPI-mediated retrograde protein traffic at the interface between the Golgi apparatus and the endoplasmic reticulum (PubMed:18556652). Involved in the maintenance of the Golgi apparatus morphology (PubMed:26581903). Has no detectable kinase activity in vitro (PubMed:18556652).
Isoform 6 acts as a transcriptional activator. It binds to three different types of GC-rich DNA binding sites (box-A, -B and -C) in the beta-polymerase promoter region. It also binds to the TERT promoter region.
Involvement in disease
Spinocerebellar ataxia, autosomal recessive, 21
SCAR21
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR21 is characterized by cerebellar atrophy and ataxia with onset in early childhood. Patients also manifest recurrent episodes of liver failure, hepatic fibrosis and a peripheral neuropathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the protein kinase superfamily.
Tissue Specificity
Ubiquitous.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Endoplasmic reticulum-Golgi intermediate compartment
- Golgi apparatus
- cis-Golgi network
- Localized to the Endoplasmic reticulum-Golgi intermediate and cis-Golgi in an ARF1-independent manner.
- Isoform 1
- Cytoplasm
- Cytoplasmic throughout the cell cycle.
- Isoform 2
- Cytoplasm
- Cytoplasmic throughout the cell cycle.
- Isoform 3
- Cytoplasm
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Cytoplasmic during interphase and centrosomal during mitosis, it localizes to the centrosomes in a microtubule-independent manner.
- Isoform 6
- Nucleus
Alternative names
CVAK90, GKLP, NTKL, TAPK, TEIF, TRAP, HT019, SCYL1, N-terminal kinase-like protein, Coated vesicle-associated kinase of 90 kDa, SCY1-like protein 1, Telomerase regulation-associated protein, Telomerase transcriptional element-interacting factor, Teratoma-associated tyrosine kinase