RPRD1A regulation of nuclear pre-mRNA domain containing 1A
Gene ID: 55197, updated on 28-Oct-2024Gene type: protein coding
Also known as: P15RS; HsT3101
- See all available tests in GTR for this gene
- Go to complete Gene record for RPRD1A
- Go to Variation Viewer for RPRD1A variants
Summary
This gene encodes a cell-cycle and transcription regulatory protein. The encoded protein interacts with the cell cycle inhibitor cyclin-dependent kinase 4 inhibitor B and may function as a negative regulator of G(1)/S phase progression. This protein also forms homo- and hetrodimers with the protein, regulation of nuclear pre-mRNA domain-containing protein 1B, to form a scaffold that interacts with the C-terminal domain of RNA polymerase II subunit B1 and regulates several aspects of transcription. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 16. [provided by RefSeq, Dec 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes. GeneReviews: Not available |
Genomic context
- Location:
- 18q12.2
- Sequence:
- Chromosome: 18; NC_000018.10 (35989824..36067559, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RPRD1A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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