Details for Gene NOS1

GENE NAME NOS1
CHROMOSOME 12
ENSEMBL ID ENSG00000089250
ENTREZ ID 4842
UNIPROT ACCESSION NUMBER P29475
GO MOLECULAR FUNCTION calcium-dependent protein binding; FMN binding; nitric-oxide synthase activity; flavin adenine dinucleotide binding; calmodulin binding; oxidoreductase activity
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa01100; hsa04730; hsa00330; hsa04713; hsa04970; R-HSA-5578775; hsa00220; hsa04926; hsa05014; hsa04713; hsa04970; hsa00330; hsa01100; hsa04730; hsa00220; hsa05022; hsa04371; hsa04145; hsa05010; hsa04926; hsa05014; R-HSA-109582; R-HSA-397014; R-HSA-1222556; hsa04020; hsa01100; hsa04730; R-HSA-168249; hsa04020; hsa00330; hsa04713; hsa04970; hsa04926; hsa05014; R-HSA-168256; hsa04371; hsa05022; hsa00220; R-HSA-5576891; hsa05010; hsa04145; hsa04371; R-HSA-392154; R-HSA-418346; hsa05022; hsa04145; hsa05010; hsa04020
5 combinations linked to NOS1 OLI424; OLI897; OLI884; OLI853; OLI753
5 variants linked to NOS1 NOS1:c.1007G>A, p.Arg336His; NOS1:c.55C>T, p.Arg19Cys; NOS1:c.2483G>A, p.Cys828Tyr; NOS1:c.3553A>G, p.Ile1185Val; NOS1:c.2153C>T, p.Thr718Met
3 diseases linked to NOS1 Normosmic congenital hypogonadotropic hypogonadism; Isolated anencephaly; Kallmann syndrome
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