SCYL1

Chr 11

SCY1 like pseudokinase 1

Also known as: GKLP, HT019, NKTL, NTKL, P105, SCAR21, TAPK, TEIF

NCBI Gene: 57410 ENSG00000142186 UniProt: Q96KG9

This protein functions as a transcriptional regulator that activates telomerase reverse transcriptase and DNA polymerase beta genes, and regulates COPI-mediated retrograde protein traffic between the Golgi apparatus and endoplasmic reticulum. Mutations cause spinocerebellar ataxia, autosomal recessive 21, which follows autosomal recessive inheritance. The gene shows relatively low constraint to loss-of-function variation (pLI near zero, LOEUF 0.677).

ResearchSummary from RefSeq, OMIM, UniProt

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. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpinocerebellar ataxia, autosomal recessive, 21

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.68

LOEUF

LOF

Mechanism· G2P

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