SCYL1

This gene encodes a transcriptional regulator belonging to the SCY1-like family of kinase-like proteins. The protein has a divergent N-terminal kinase domain that is thought to be catalytically inactive, and can bind specific DNA sequences through its C-terminal domain. It activates transcription of the telomerase reverse transcriptase and DNA polymerase beta genes. The protein has been localized to the nucleus, and also to the cytoplasm and centrosomes during mitosis. Multiple transcript variants encoding different isoforms have been found for this gene.

Full Name

SCY1 Like Pseudokinase 1

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 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.

Biological Process

Biological Process inflammatory responseIEA:Ensembl
Biological Process neuron developmentIEA:Ensembl
Biological Process protein localizationIEA:Ensembl
Biological Process retrograde vesicle-mediated transport, Golgi to endoplasmic reticulumManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process spinal cord motor neuron differentiationIEA:Ensembl

Cellular Location

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

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.