KEGG   Homo sapiens (human): 64802
Entry
64802             CDS       T01001                                 
Symbol
NMNAT1, LCA9, NMNAT, PNAT1, SHILCA
Name
(RefSeq) nicotinamide nucleotide adenylyltransferase 1
  KO
K06210  nicotinamide mononucleotide adenylyltransferase [EC:2.7.7.1 2.7.7.18]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00760  Nicotinate and nicotinamide metabolism
hsa01100  Metabolic pathways
hsa01240  Biosynthesis of cofactors
Module
hsa_M00912  NAD biosynthesis, tryptophan => quinolinate => NAD
Network
nt06036  Lysine degradation
  Element
N01723  NAD biosynthesis
Disease
H00837  Leber congenital amaurosis
H02950  Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and Leber congenital amaurosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00760 Nicotinate and nicotinamide metabolism
    64802 (NMNAT1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.7  Nucleotidyltransferases
    2.7.7.1  nicotinamide-nucleotide adenylyltransferase
     64802 (NMNAT1)
    2.7.7.18  nicotinate-nucleotide adenylyltransferase
     64802 (NMNAT1)
SSDB
Motif
Pfam: CTP_transf_like
Other DBs
NCBI-GeneID: 64802
NCBI-ProteinID: NP_001284707
OMIM: 608700
HGNC: 17877
Ensembl: ENSG00000173614
UniProt: Q9HAN9
Structure
LinkDB
Position
1:9942923..9996892
AA seq 279 aa
MENSEKTEVVLLACGSFNPITNMHLRLFELAKDYMNGTGRYTVVKGIISPVGDAYKKKGL
IPAYHRVIMAELATKNSKWVEVDTWESLQKEWKETLKVLRHHQEKLEASDCDHQQNSPTL
ERPGRKRKWTETQDSSQKKSLEPKTKAVPKVKLLCGADLLESFAVPNLWKSEDITQIVAN
YGLICVTRAGNDAQKFIYESDVLWKHRSNIHVVNEWIANDISSTKIRRALRRGQSIRYLV
PDLVQEYIEKHNLYSSESEDRNAGVILAPLQRNTAEAKT
NT seq 840 nt   +upstreamnt  +downstreamnt
atggaaaattccgagaagactgaagtggttctccttgcttgtggttcattcaatcccatc
accaacatgcacctcaggttgtttgagctggccaaggactacatgaatggaacaggaagg
tacacagttgtcaaaggcatcatctctcctgttggtgatgcctacaagaagaaaggactc
attcctgcctatcaccgggtcatcatggcagaacttgctaccaagaattctaaatgggtg
gaagttgatacatgggaaagtcttcagaaggagtggaaagagactctgaaggtgctaaga
caccatcaagagaaattggaggctagtgactgtgatcaccagcagaactcacctactcta
gaaaggcctggaaggaagaggaagtggactgaaacacaagattctagtcaaaagaaatcc
ctagagccaaaaacaaaagctgtgccaaaggtcaagctgctgtgtggggcagatttattg
gagtcctttgctgttcccaatttgtggaagagtgaagacatcacccaaatcgtggccaac
tatgggctcatatgtgttactcgggctggaaatgatgctcagaagtttatctatgaatcg
gatgtgctgtggaaacaccggagcaacattcacgtggtgaatgaatggatcgctaatgac
atctcatccacaaaaatccggagagccctcagaaggggccagagcattcgctacttggta
ccagatcttgtccaagaatacattgaaaagcataatttgtacagctctgagagtgaagac
aggaatgctggggtcatcctggcccctttgcagagaaacactgcagaagctaagacatag

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