NADSYN1
entrez
55191
canonical
uniprot
Q6IA69
canonical
ensembl
ENSG00000172890
resolver
ensp
ENSP00000326424
resolver
genesymbol
NADSYN1
resolver
hgnc
HGNC:29832
resolver
uniprot
B3KUU4
resolver
uniprot
Q86SN2
resolver
uniprot
Q9HA25
resolver
uniprot
Q9NVM8
resolver
uniprot_entry
NADE_HUMAN
resolver
uniprot_sec
B3KUU4
resolver
uniprot_sec
Q86SN2
resolver
uniprot_sec
Q9HA25
resolver
uniprot_sec
Q9NVM8
resolver
amino_acid_sequence
MGRKVTVATCALNQWALDFEGNLQRILKSIEIAKNRGARYRLGPELEICGYGCWDHYYESDTLLHSFQVLAALVESPVTQDIICDVGMPVMHRNVRYNCRVIFLNRKILLIRPKMALANEGNYRELRWFTPWSRSRHTEEYFLPRMIQDLTKQETVPFGDAVLVTWDTCIGSEICEELWTPHSPHIDMGLDGVEIITNASGSHQVLRKANTRVDLVTMVTSKNGGIYLLANQKGCDGDRLYYDGCAMIAMNGSVFAQGSQFSLDDVEVLTATLDLEDVRSYRAEISSRNLAASRASPYPRVKVDFALSCHEDLLAPISEPIEWKYHSPEEEISLGPACWLWDFLRRSQQAGFLLPLSGGVDSAATACLIYSMCCQVCEAVRSGNEEVLADVRTIVNQISYTPQDPRDLCGRILTTCYMASKNSSQETCTRARELAQQIGSHHISLNIDPAVKAVMGIFSLVTGKSPLFAAHGGSSRENLALQNVQARIRMVLAYLFAQLSLWSRGVHGGLLVLGSANVDESLLGYLTKYDCSSADINPIGGISKTDLRAFVQFCIQRFQLPALQSILLAPATAELEPLADGQVSQTDEEDMGMTYAELSVYGKLRKVAKMGPYSMFCKLLGMWRHICTPRQVADKVKRFFSKYSMNRHKMTTLTPAYHAENYSPEDNRFDLRPFLYNTSWPWQFRCIENQVLQLERAEPQSLDGVD
uniprot
proteins
disease_involvement
DISEASE: Vertebral, cardiac, renal, and limb defects syndrome 3 (VCRL3) [MIM:618845]: An autosomal recessive, lethal disorder characterized by severe cardiac and renal anomalies, including hypoplastic or absent left ventricle, transposition of the great arteries, absent pulmonary trunk, and hypoplastic or absent kidneys. Patients also exhibit vertebral segmentation defects and shortening of the proximal long bones or micromelia. Death occurs in early infancy. {ECO:0000269|PubMed:31883644}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.3.5.1
uniprot
proteins
function
FUNCTION: Catalyzes the final step of the nicotinamide adenine dinucleotide (NAD) de novo synthesis pathway, the ATP-dependent amidation of deamido-NAD using L-glutamine as a nitrogen source. {ECO:0000269|PubMed:12547821, ECO:0000269|PubMed:31883644}.
uniprot
proteins
mass_dalton
79285
uniprot
proteins
mutagenesis
MUTAGEN 175; /note="C->S: Eliminates glutamine-dependent NAD synthetase activity with the ammonia-dependent activity intact."; /evidence="ECO:0000269|PubMed:12547821
uniprot
proteins
pathway_participation
PATHWAY: Cofactor biosynthesis; NAD(+) biosynthesis; NAD(+) from deamido-NAD(+) (L-Gln route): step 1/1. {ECO:0000305|PubMed:12547821}.
uniprot
proteins
protein_family
NAD synthetase family
uniprot
proteins
pubmed
12547821
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
31883644
uniprot
proteins
sequence_length
706
uniprot
proteins