Homo sapiens (human): 80308
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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)
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Gene cluster
GFIT
Motif
Pfam:
PAPS_reduct
MoCF_biosynth
Motif
Other DBs
NCBI-GeneID:
80308
NCBI-ProteinID:
NP_079483
OMIM:
610595
HGNC:
24671
Ensembl:
ENSG00000160688
UniProt:
Q8NFF5
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Position
1:154983344..154993111
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AA seq
587 aa
AA seq
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MGWDLGTRLFQRQEQRSRLSRIWLEKTRVFLEGSTRTPALPHCLFWLLQVPSTQDPLFPG
YGPQCPVDLAGPPCLRPLFGGLGGYWRALQRGREGRTMTSRASELSPGRSVTAGIIIVGD
EILKGHTQDTNTFFLCRTLRSLGVQVCRVSVVPDEVATIAAEVTSFSNRFTHVLTAGGIG
PTHDDVTFEAVAQAFGDELKPHPKLEAATKALGGEGWEKLSLVPSSARLHYGTDPCTGQP
FRFPLVSVRNVYLFPGIPELLRRVLEGMKGLFQNPAVQFHSKELYVAADEASIAPILAEA
QAHFGRRLGLGSYPDWGSNYYQVKLTLDSEEEGPLEECLAYLTARLPQGSLVPYMPNAVE
QASEAVYKLAESGSSLGKKVAGALQTIETSLAQYSLTQLCVGFNGGKDCTALLHLFHAAV
QRKLPDVPNPLQILYIRSISPFPELEQFLQDTIKRYNLQMLEAEGSMKQALGELQARHPQ
LEAVLMGTRRTDPYSCSLCPFSPTDPGWPAFMRINPLLDWTYRDIWDFLRQLFVPYCILY
DRGYTSLGSRENTVRNPALKCLSPGGHPTYRPAYLLENEEEERNSRT
NT seq
1764 nt
NT seq
+upstream
nt +downstream
nt
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
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