Entrez Gene ID | 55197 |
---|---|
Official Gene Symbol | RPRD1A (GeneCards) |
Full name | regulation of nuclear pre-mRNA domain containing 1A |
Location | 18q12.2 |
Other ids | Vega : OTTHUMG00000132591 MIM : 610347 HGNC : HGNC:25560 Ensembl : ENSG00000141425 |
Other names | P15RS, HsT3101 |
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] |
Found 4 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
20319 | 55197 | RPRD1A | 18 | 33670274 | 33670274 | Asymptomatic | HiSeq X Ten |
20332 | 55197 | RPRD1A | 18 | 33641947 | 33641947 | Asymptomatic | HiSeq X Ten |
20515 | 55197 | RPRD1A | 18 | 33680483 | 33680483 | Asymptomatic | HiSeq X Ten |
20676 | 55197 | RPRD1A | 18 | 33666332 | 33666332 | Cockayne syndrome | HiSeq X Ten |