SCYL1

Description

The SCYL1 (SCY1 like pseudokinase 1) is a protein-coding gene located on chromosome 11.

The SCYL1 gene, also known as SCY1-like 1, is highly conserved across different species and encodes a protein that functions as a transcriptional regulator. This protein belongs to the SCY1-like family of kinase-like proteins and features a modified N-terminal kinase domain that lacks enzymatic activity. Instead, it binds to specific DNA sequences through its C-terminal domain, activating the transcription of genes involved in DNA replication and telomere maintenance. These include the telomerase reverse transcriptase and DNA polymerase beta genes. SCYL1 is found primarily within the nucleus, but also in the cytoplasm and at centrosomes during cell division. Multiple versions of the SCYL1 gene have been identified, each producing different protein isoforms. At least three of these transcripts create a complete, full-length protein. The mouse version of the full-length SCYL1 protein shares a high degree of similarity (90% identical, 93% similar) with the human version. It contains various structural elements including HEAT repeats and a C-terminal coiled coil domain that also harbors several dibasic motifs, ending with the dibasic motif RKLD-COOH. SCYL1 is located within the cis-Golgi and the ER-Golgi Intermediate Compartment (ERGIC).

SCYL1 is also known as GKLP, HT019, NKTL, NTKL, P105, SCAR21, TAPK, TEIF, TRAP.

Associated Diseases

• Spinocerebellar ataxia, autosomal recessive 21
• Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome