GENE NAME | NRP1 |
CHROMOSOME | 10 |
ENSEMBL ID | ENSG00000099250 |
ENTREZ ID | 8829 |
UNIPROT ACCESSION NUMBER | O14786 |
GO MOLECULAR FUNCTION | vascular endothelial growth factor-activated receptor activity; protein binding; metal ion binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-162582; hsa05171; R-HSA-399956; hsa04360; R-HSA-376176; R-HSA-373755; R-HSA-422475; R-HSA-194138; R-HSA-373760; R-HSA-399954; R-HSA-445144; R-HSA-9675108; R-HSA-447041; hsa05166; R-HSA-194306; R-HSA-1266738; R-HSA-9006934; R-HSA-399955 |
4 combinations linked to NRP1 | OLI857; OLI652; OLI602; OLI913 |
3 variants linked to NRP1 | NRP1:c.2504G>A, p.Gly835Asp; NRP1:c.2222G>A, p.Arg741His; NRP1:c.418A>C, p.Ile140Leu |
4 diseases linked to NRP1 | Normosmic congenital hypogonadotropic hypogonadism; Congenital hypogonadotropic hypogonadism; Disorder of sex development; Kallmann syndrome |