SCYL1 SCY1 like pseudokinase 1
Gene ID: 57410, updated on 10-Oct-2024Gene type: protein coding
Also known as: GKLP; NKTL; NTKL; P105; TAPK; TEIF; TRAP; HT019; SCAR21
- See all available tests in GTR for this gene
- Go to complete Gene record for SCYL1
- Go to Variation Viewer for SCYL1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of optic disc parameters. GeneReviews: Not available | |
| Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | See labs |
| Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. GeneReviews: Not available |
Genomic context
- Location:
- 11q13.1
- Sequence:
- Chromosome: 11; NC_000011.10 (65525083..65538704)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SCYL1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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