KEGG   Homo sapiens (human): 80308
Entry
80308             CDS       T01001                                 
Symbol
FLAD1, FAD1, FADS, LSMFLAD, PP591
Name
(RefSeq) flavin adenine dinucleotide synthetase 1
  KO
K00953  FAD synthetase [EC:2.7.7.2]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00740  Riboflavin metabolism
hsa01100  Metabolic pathways
hsa01240  Biosynthesis of cofactors
Disease
H02527  Lipid storage myopathy due to FLAD1 deficiency
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00740 Riboflavin metabolism
    80308 (FLAD1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.7  Nucleotidyltransferases
    2.7.7.2  FAD synthase
     80308 (FLAD1)
SSDB
Motif
Pfam: FLAD1_M PAPS_reduct MoCF_biosynth
Other DBs
NCBI-GeneID: 80308
NCBI-ProteinID: NP_079483
OMIM: 610595
HGNC: 24671
Ensembl: ENSG00000160688
UniProt: Q8NFF5
Structure
Position
1:154983344..154993111
AA seq 587 aa
MGWDLGTRLFQRQEQRSRLSRIWLEKTRVFLEGSTRTPALPHCLFWLLQVPSTQDPLFPG
YGPQCPVDLAGPPCLRPLFGGLGGYWRALQRGREGRTMTSRASELSPGRSVTAGIIIVGD
EILKGHTQDTNTFFLCRTLRSLGVQVCRVSVVPDEVATIAAEVTSFSNRFTHVLTAGGIG
PTHDDVTFEAVAQAFGDELKPHPKLEAATKALGGEGWEKLSLVPSSARLHYGTDPCTGQP
FRFPLVSVRNVYLFPGIPELLRRVLEGMKGLFQNPAVQFHSKELYVAADEASIAPILAEA
QAHFGRRLGLGSYPDWGSNYYQVKLTLDSEEEGPLEECLAYLTARLPQGSLVPYMPNAVE
QASEAVYKLAESGSSLGKKVAGALQTIETSLAQYSLTQLCVGFNGGKDCTALLHLFHAAV
QRKLPDVPNPLQILYIRSISPFPELEQFLQDTIKRYNLQMLEAEGSMKQALGELQARHPQ
LEAVLMGTRRTDPYSCSLCPFSPTDPGWPAFMRINPLLDWTYRDIWDFLRQLFVPYCILY
DRGYTSLGSRENTVRNPALKCLSPGGHPTYRPAYLLENEEEERNSRT
NT seq 1764 nt   +upstreamnt  +downstreamnt
atgggttgggatttgggaacacgtttattccagaggcaggaacaaaggagtcgcttgtca
aggatctggttagagaagactagggtcttcctcgaaggaagcacgcgcacgcctgctctc
ccccattgtcttttctggcttctccaggttccctcgacccaggaccccctgttcccaggc
tatggcccccagtgccctgtagacctggcaggccccccgtgcttgcgacccctatttggg
ggtctgggtggctactggagggccttgcagaggggcagagaaggcaggaccatgacatct
agggcctctgaactttctccggggcgcagcgtgacggctggcatcatcattgttggagat
gagatccttaagggacacactcaggacaccaacaccttctttctgtgccggacactgcgc
tccctaggggtccaggtttgccgagtctcagttgtacctgatgaggtagccaccattgca
gctgaggtcacttctttctccaaccgcttcacccatgtcctcacagcagggggcatcggc
cccactcatgatgatgtgacctttgaggcagtggcacaggcctttggagatgagctgaag
ccacaccccaagttggaagcagccaccaaagccctaggaggggaaggctgggagaagcta
tcattggtgccctcctctgcccgcctgcattatggcacagatccttgcactggtcaacct
ttcagattccctctggtctccgtccgaaacgtctacctcttcccaggcattccagagctg
ctgcggcgggtgctggaggggatgaagggactattccaaaacccagctgttcagttccac
tcaaaggagctatatgtggctgctgatgaagcctccatcgcccccattctggctgaggcc
caggcccactttggacgtaggcttggcctgggttcctaccctgactggggcagcaactac
tatcaggtgaagctgactctagactcagaggaagaaggacccctggaggaatgcttggcc
tacctgactgcccgtttgccccagggatcgctggtcccctacatgcccaacgctgtggag
caggccagtgaggctgtatacaaactcgctgaatcagggtcttctttggggaaaaaggtg
gcaggtgccctacagaccattgagacctccctggctcagtacagcctcacccagctctgt
gtgggcttcaacgggggcaaagactgcactgccctcctgcacctcttccatgcagctgtg
cagaggaaattacctgatgttccaaaccccctccagatcctgtatatccgcagcatctcc
cctttccctgagctggaacagtttctacaggacactatcaagaggtataatctgcagatg
ttggaagctgagggcagcatgaagcaggccctgggtgaactgcaggcacggcacccccag
ctggaggctgtccttatgggcacccgccggactgacccctactcctgtagcctctgccct
ttcagccccactgacccaggctggcccgcattcatgcgcatcaacccactgctggactgg
acctacagagacatctgggattttctgcgtcagctgtttgtcccatactgtatcctgtat
gaccgaggatacacatcactggggagtcgggagaataccgtgcggaacccggccctgaag
tgcctgagcccaggaggacaccccacataccgtccagcctatctactggagaacgaagaa
gaggagcggaactcccgcacatga

  All links  
Disease (2)   
   OMIM (2)   
Gene (24)   
   RefGene (10)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (9)   
   OC (1)   
Protein sequence (13)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (11)   
DNA sequence (41)   
   RefSeq(nuc) (11)   
   GenBank (15)   
   EMBL (15)   
3D Structure (2)   
   PDB (2)   
Protein domain (3)   
   Pfam (3)   
All databases (85)   

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