GENE NAME | PRIM1 |
CHROMOSOME | 12 |
ENSEMBL ID | ENSG00000198056 |
ENTREZ ID | 5557 |
UNIPROT ACCESSION NUMBER | P49642 |
GO MOLECULAR FUNCTION | protein binding; ribonucleotide binding; magnesium ion binding; DNA primase activity; zinc ion binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-453279; R-HSA-157579; R-HSA-69278; R-HSA-69242; R-HSA-174417; R-HSA-68952; R-HSA-69091; R-HSA-69239; R-HSA-174430; R-HSA-69183; hsa03030; R-HSA-113501; R-HSA-1640170; R-HSA-69190; R-HSA-69306; R-HSA-174411; R-HSA-180786; R-HSA-69002; R-HSA-69166; R-HSA-69186; R-HSA-68962; R-HSA-69206; R-HSA-113510; R-HSA-69109; R-HSA-73886 |
1 combination linked to PRIM1 | OLI1057 |
1 variant linked to PRIM1 | PRIM1:c.911G>T, p.Arg304Leu |
1 disease linked to PRIM1 | Primary ovarian failure |