NOS3
entrez
4846
canonical
uniprot
P29474
canonical
ensembl
ENSG00000164867
resolver
ensp
ENSP00000297494
resolver
ensp
ENSP00000420215
resolver
ensp
ENSP00000420551
resolver
ensp
ENSP00000795907
resolver
genesymbol
NOS3
resolver
hgnc
HGNC:7876
resolver
uniprot
A0S0A6
resolver
uniprot
A0S0A7
resolver
uniprot
A0S0A8
resolver
uniprot
A8KA63
resolver
uniprot
B2RCQ1
resolver
uniprot
E9PFR2
resolver
uniprot
Q13662
resolver
uniprot
Q14251
resolver
uniprot
Q14434
resolver
uniprot
Q548C1
resolver
uniprot
Q6GSL5
resolver
uniprot
Q9UDC6
resolver
uniprot_entry
A0S0A6_HUMAN
resolver
uniprot_entry
NOS3_HUMAN
resolver
uniprot_sec
A0S0A7
resolver
uniprot_sec
A0S0A8
resolver
uniprot_sec
A8KA63
resolver
uniprot_sec
B2RCQ1
resolver
uniprot_sec
E9PFR2
resolver
uniprot_sec
Q13662
resolver
uniprot_sec
Q14251
resolver
uniprot_sec
Q14434
resolver
uniprot_sec
Q548C1
resolver
uniprot_sec
Q6GSL5
resolver
uniprot_sec
Q9UDC6
resolver
activity_regulation
ACTIVITY REGULATION: Stimulated by calcium/calmodulin. Inhibited by NOSIP and NOSTRIN. {ECO:0000269|PubMed:11149895, ECO:0000269|PubMed:12446846}.
uniprot
proteins
amino_acid_sequence
MGNLKSVAQEPGPPCGLGLGLGLGLCGKQGPATPAPEPSRAPASLLPPAPEHSPPSSPLTQPPEGPKFPRVKNWEVGSITYDTLSAQAQQDGPCTPRRCLGSLVFPRKLQGRPSPGPPAPEQLLSQARDFINQYYSSIKRSGSQAHEQRLQEVEAEVAATGTYQLRESELVFGAKQAWRNAPRCVGRIQWGKLQVFDARDCRSAQEMFTYICNHIKYATNRGNLRSAITVFPQRCPGRGDFRIWNSQLVRYAGYRQQDGSVRGDPANVEITELCIQHGWTPGNGRFDVLPLLLQAPDDPPELFLLPPELVLEVPLEHPTLEWFAALGLRWYALPAVSNMLLEIGGLEFPAAPFSGWYMSTEIGTRNLCDPHRYNILEDVAVCMDLDTRTTSSLWKDKAAVEINVAVLHSYQLAKVTIVDHHAATASFMKHLENEQKARGGCPADWAWIVPPISGSLTPVFHQEMVNYFLSPAFRYQPDPWKGSAAKGTGITRKKTFKEVANAVKISASLMGTVMAKRVKATILYGSETGRAQSYAQQLGRLFRKAFDPRVLCMDEYDVVSLEHETLVLVVTSTFGNGDPPENGESFAAALMEMSGPYNSSPRPEQHKSYKIRFNSISCSDPLVSSWRRKRKESSNTDSAGALGTLRFCVFGLGSRAYPHFCAFARAVDTRLEELGGERLLQLGQGDELCGQEEAFRGWAQAAFQAACETFCVGEDAKAAARDIFSPKRSWKRQRYRLSAQAEGLQLLPGLIHVHRRKMFQATIRSVENLQSSKSTRATILVRLDTGGQEGLQYQPGDHIGVCPPNRPGLVEALLSRVEDPPAPTEPVAVEQLEKGSPGGPPPGWVRDPRLPPCTLRQALTFFLDITSPPSPQLLRLLSTLAEEPREQQELEALSQDPRRYEEWKWFRCPTLLEVLEQFPSVALPAPLLLTQLPLLQPRYYSVSSAPSTHPGEIHLTVAVLAYRTQDGLGPLHYGVCSTWLSQLKPGDPVPCFIRGAPSFRLPPDPSLPCILVGPGTGIAPFRGFWQERLHDIESKGLQPTPMTLVFGCRCSQLDHLYRDEVQNAQQRGVFGRVLTAFSREPDNPKTYVQDILRTELAAEVHRVLCLERGHMFVCGDVTMATNVLQTVQRILATEGDMELDEAGDVIGVLRDQQRYHEDIFGLTLRTQEVTSRIRTQSFSLQERQLRGAVPWAFDPPGSDTNSP
uniprot
proteins
disease_involvement
DISEASE: Moyamoya disease 8 (MYMY8) [MIM:621469]: A form of Moyamoya disease, a progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. MYMY8 inheritance is autosomal recessive. {ECO:0000269|PubMed:36941667}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.13.39
uniprot
proteins
function
FUNCTION: Produces nitric oxide (NO) which is implicated in vascular smooth muscle relaxation through a cGMP-mediated signal transduction pathway (PubMed:1378832). NO mediates vascular endothelial growth factor (VEGF)-induced angiogenesis in coronary vessels and promotes blood clotting through the activation of platelets. {ECO:0000269|PubMed:1378832}.; FUNCTION: [Isoform eNOS13C]: Lacks eNOS activity, dominant-negative form that may down-regulate eNOS activity by forming heterodimers with isoform 1.
uniprot
proteins
mass_dalton
133275
uniprot
proteins
mutagenesis
MUTAGEN 114; /note="S->A: Reduced nitrite (NO) production."; /evidence="ECO:0000269|PubMed:20213743
uniprot
proteins
post_translational_modification
PTM: Phosphorylation by AMPK at Ser-1177 in the presence of Ca(2+)-calmodulin (CaM) activates activity. In absence of Ca(2+)-calmodulin, AMPK also phosphorylates Thr-495, resulting in inhibition of activity (By similarity). Phosphorylation of Ser-114 by CDK5 reduces activity. {ECO:0000250, ECO:0000269|PubMed:16126727, ECO:0000269|PubMed:20213743}.
uniprot
proteins
protein_family
NOS family
uniprot
proteins
pubmed
10074942
uniprot
proteins
pubmed
11149895
uniprot
proteins
pubmed
11740345
uniprot
proteins
pubmed
12437348
uniprot
proteins
pubmed
12446846
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
1378832
uniprot
proteins
pubmed
1379542
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16126727
uniprot
proteins
pubmed
16135813
uniprot
proteins
pubmed
16234328
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17264164
uniprot
proteins
pubmed
18849972
uniprot
proteins
pubmed
20213743
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23585225
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25286850
uniprot
proteins
pubmed
35772285
uniprot
proteins
pubmed
36941667
uniprot
proteins
pubmed
7475956
uniprot
proteins
pubmed
7509596
uniprot
proteins
pubmed
7514568
uniprot
proteins
pubmed
7515611
uniprot
proteins
pubmed
7519987
uniprot
proteins
pubmed
7688726
uniprot
proteins
pubmed
9737779
uniprot
proteins
sequence_length
1203
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane. Membrane, caveola. Cytoplasm, cytoskeleton. Golgi apparatus. Note=Specifically associates with actin cytoskeleton in the G2 phase of the cell cycle; which is favored by interaction with NOSIP and results in a reduced enzymatic activity.
uniprot
proteins