GENE NAME | RIMS1 |
CHROMOSOME | 6 |
ENSEMBL ID | ENSG00000079841 |
ENTREZ ID | 22999 |
UNIPROT ACCESSION NUMBER | Q86UR5 |
GO MOLECULAR FUNCTION | transmembrane transporter binding; small GTPase binding; metal ion binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04721; hsa04723; R-HSA-112310; R-HSA-181430; R-HSA-888590; R-HSA-264642; hsa04723; R-HSA-212676; hsa04721; R-HSA-181429; R-HSA-210500; R-HSA-112315; R-HSA-112316 |
1 combination linked to RIMS1 | OLI449 |
1 variant linked to RIMS1 | RIMS1:c.3136delA, p.Lys1046LysfsTer32 |
1 disease linked to RIMS1 | Retinitis pigmentosa |