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UniProtKB - Q8NFF5 (FAD1_HUMAN)
Protein
FAD synthase
Gene
FLAD1
Organism
Homo sapiens (Human)
Status
Functioni
Catalyzes the adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme.
2 PublicationsCatalytic activityi
- EC:2.7.7.21 Publication
Cofactori
Mg2+2 Publications
Kineticsi
- KM=1.5 µM for FMN2 Publications
- KM=0.36 µM for FMN (isoform 2)2 Publications
- Vmax=6.1 nmol/min/mg enzyme2 Publications
- Vmax=3.9 nmol/min/mg enzyme (isoform 2)2 Publications
: FAD biosynthesis Pathwayi
This protein is involved in step 1 of the subpathway that synthesizes FAD from FMN. This subpathway is part of the pathway FAD biosynthesis, which is itself part of Cofactor biosynthesis.View all proteins of this organism that are known to be involved in the subpathway that synthesizes FAD from FMN, the pathway FAD biosynthesis and in Cofactor biosynthesis.
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- FMN adenylyltransferase activity Source: GO_Central
- identical protein binding Source: IntAct
GO - Biological processi
- FAD biosynthetic process Source: GO_Central
- riboflavin metabolic process Source: Reactome
Keywordsi
Molecular function | Nucleotidyltransferase, Transferase |
Ligand | ATP-binding, FAD, Flavoprotein, FMN, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 2.7.7.2, 2681 |
PathwayCommonsi | Q8NFF5 |
Reactomei | R-HSA-196843, Vitamin B2 (riboflavin) metabolism |
SABIO-RKi | Q8NFF5 |
SignaLinki | Q8NFF5 |
UniPathwayi | UPA00277;UER00407 |
Names & Taxonomyi
Protein namesi | Recommended name: FAD synthase (EC:2.7.7.21 Publication)Alternative name(s): FAD pyrophosphorylase FMN adenylyltransferase Flavin adenine dinucleotide synthase Including the following 2 domains: Molybdenum cofactor biosynthesis protein-like region FAD synthase region |
Gene namesi | Name:FLAD1 ORF Names:PP591 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24671, FLAD1 |
MIMi | 610595, gene |
neXtProti | NX_Q8NFF5 |
VEuPathDBi | HostDB:ENSG00000160688 |
Subcellular locationi
Mitochondrion
- Mitochondrion matrix 1 Publication
Cytoplasm and Cytosol
Cytosol
- cytosol Source: HPA
Mitochondrion
- mitochondrial matrix Source: UniProtKB-SubCell
Plasma Membrane
- plasma membrane Source: HPA
Keywords - Cellular componenti
Cytoplasm, MitochondrionPathology & Biotechi
Involvement in diseasei
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (LSMFLAD)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, inborn error of metabolism characterized by variable mitochondrial dysfunction. Clinical features range from severe cardiac and respiratory insufficiency with onset in infancy and resulting in early death, to mild muscle weakness with onset in adulthood. Some patients show significant improvement with riboflavin treatment. Analysis of skeletal muscle show multiple mitochondrial respiratory chain deficiency and a lipid storage myopathy in most patients.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077070 | 530 | R → C in LSMFLAD; decreased protein stability; decreased affinity for FMN; reduced Vmax; decreased FMN adenylyltransferase activity. 1 PublicationCorresponds to variant dbSNP:rs771466122EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 80308 |
MalaCardsi | FLAD1 |
MIMi | 255100, phenotype |
OpenTargetsi | ENSG00000160688 |
Orphaneti | 394532, Multiple acyl-CoA dehydrogenase deficiency, mild type 394529, Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type |
PharmGKBi | PA142671759 |
Miscellaneous databases
Pharosi | Q8NFF5, Tbio |
Chemistry databases
ChEMBLi | CHEMBL3879869 |
Genetic variation databases
BioMutai | FLAD1 |
DMDMi | 74751275 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 17 | MitochondrionSequence analysisAdd BLAST | 17 | |
ChainiPRO_0000302737 | 18 – 587 | FAD synthaseAdd BLAST | 570 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 106 | PhosphoserineCombined sources | 1 | |
Modified residuei | 378 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 378 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 563 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q8NFF5 |
jPOSTi | Q8NFF5 |
MassIVEi | Q8NFF5 |
MaxQBi | Q8NFF5 |
PaxDbi | Q8NFF5 |
PeptideAtlasi | Q8NFF5 |
PRIDEi | Q8NFF5 |
ProteomicsDBi | 73297 [Q8NFF5-1] 73298 [Q8NFF5-2] 73299 [Q8NFF5-3] 73300 [Q8NFF5-4] 73301 [Q8NFF5-5] |
PTM databases
GlyGeni | Q8NFF5, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q8NFF5 |
PhosphoSitePlusi | Q8NFF5 |
Expressioni
Gene expression databases
Bgeei | ENSG00000160688, Expressed in apex of heart and 214 other tissues |
ExpressionAtlasi | Q8NFF5, baseline and differential |
Genevisiblei | Q8NFF5, HS |
Organism-specific databases
HPAi | ENSG00000160688, Low tissue specificity |
Interactioni
Binary interactionsi
Q8NFF5
With | #Exp. | IntAct |
---|---|---|
itself | 3 | EBI-742815,EBI-742815 |
REL [Q04864] | 3 | EBI-742815,EBI-307352 |
SDCBP [O00560] | 4 | EBI-742815,EBI-727004 |
TCF4 [P15884] | 3 | EBI-742815,EBI-533224 |
FLAD1 - isoform 2 [Q8NFF5-2]
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 123221, 104 interactors |
IntActi | Q8NFF5, 36 interactors |
MINTi | Q8NFF5 |
STRINGi | 9606.ENSP00000292180 |
Miscellaneous databases
RNActi | Q8NFF5, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 114 – 205 | Molybdenum cofactor biosynthesis protein-likeAdd BLAST | 92 | |
Regioni | 398 – 555 | FAD synthaseAdd BLAST | 158 |
Domaini
The molybdenum cofactor biosynthesis protein-like region may not be functional.
Sequence similaritiesi
In the N-terminal section; belongs to the MoaB/Mog family.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG2644, Eukaryota |
GeneTreei | ENSGT00390000007266 |
HOGENOMi | CLU_030805_8_0_1 |
InParanoidi | Q8NFF5 |
OMAi | IGNVIVM |
OrthoDBi | 1437247at2759 |
PhylomeDBi | Q8NFF5 |
TreeFami | TF314056 |
Family and domain databases
CDDi | cd00885, cinA, 1 hit cd01713, PAPS_reductase, 1 hit |
Gene3Di | 3.40.50.620, 1 hit 3.40.980.10, 1 hit |
InterProi | View protein in InterPro IPR012183, FAD_synth_MoaB/Mog-bd IPR036425, MoaB/Mog-like_dom_sf IPR001453, MoaB/Mog_dom IPR002500, PAPS_reduct IPR014729, Rossmann-like_a/b/a_fold |
Pfami | View protein in Pfam PF00994, MoCF_biosynth, 1 hit PF01507, PAPS_reduct, 2 hits |
PIRSFi | PIRSF036620, MPTbdFAD, 1 hit |
SMARTi | View protein in SMART SM00852, MoCF_biosynth, 1 hit |
SUPFAMi | SSF53218, SSF53218, 1 hit |
s (5+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8NFF5-1) [UniParc]FASTAAdd to basket
Also known as: FADS11 Publication
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MGWDLGTRLF QRQEQRSRLS RIWLEKTRVF LEGSTRTPAL PHCLFWLLQV
60 70 80 90 100
PSTQDPLFPG YGPQCPVDLA GPPCLRPLFG GLGGYWRALQ RGREGRTMTS
110 120 130 140 150
RASELSPGRS VTAGIIIVGD EILKGHTQDT NTFFLCRTLR SLGVQVCRVS
160 170 180 190 200
VVPDEVATIA AEVTSFSNRF THVLTAGGIG PTHDDVTFEA VAQAFGDELK
210 220 230 240 250
PHPKLEAATK ALGGEGWEKL SLVPSSARLH YGTDPCTGQP FRFPLVSVRN
260 270 280 290 300
VYLFPGIPEL LRRVLEGMKG LFQNPAVQFH SKELYVAADE ASIAPILAEA
310 320 330 340 350
QAHFGRRLGL GSYPDWGSNY YQVKLTLDSE EEGPLEECLA YLTARLPQGS
360 370 380 390 400
LVPYMPNAVE QASEAVYKLA ESGSSLGKKV AGALQTIETS LAQYSLTQLC
410 420 430 440 450
VGFNGGKDCT ALLHLFHAAV QRKLPDVPNP LQILYIRSIS PFPELEQFLQ
460 470 480 490 500
DTIKRYNLQM LEAEGSMKQA LGELQARHPQ LEAVLMGTRR TDPYSCSLCP
510 520 530 540 550
FSPTDPGWPA FMRINPLLDW TYRDIWDFLR QLFVPYCILY DRGYTSLGSR
560 570 580
ENTVRNPALK CLSPGGHPTY RPAYLLENEE EERNSRT
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ5T196 | Q5T196_HUMAN | FAD synthase | FLAD1 hCG_20019 | 456 | Annotation score: | ||
Q5T190 | Q5T190_HUMAN | FAD synthase | FLAD1 | 128 | Annotation score: | ||
Q5T191 | Q5T191_HUMAN | FAD synthase | FLAD1 hCG_20019 | 170 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077069 | 107 | P → L1 PublicationCorresponds to variant dbSNP:rs773925274Ensembl. | 1 | |
Natural variantiVAR_077070 | 530 | R → C in LSMFLAD; decreased protein stability; decreased affinity for FMN; reduced Vmax; decreased FMN adenylyltransferase activity. 1 PublicationCorresponds to variant dbSNP:rs771466122EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_027947 | 1 – 97 | Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST | 97 | |
Alternative sequenceiVSP_027948 | 1 – 30 | Missing in isoform 4 and isoform 5. 2 PublicationsAdd BLAST | 30 | |
Alternative sequenceiVSP_027949 | 31 – 124 | LEGST…DEILK → MQPSSSTPPLHPYSTDGLIF PFNPQ in isoform 4 and isoform 5. 2 PublicationsAdd BLAST | 94 | |
Alternative sequenceiVSP_027950 | 374 – 437 | SSLGK…ILYIR → NYLMFQTPSRSCISAASPLS LSWNSFYRTLSREQAIPENQ IASPPSEAKGAEEPWMGPFP GQQG in isoform 5. 1 PublicationAdd BLAST | 64 | |
Alternative sequenceiVSP_027951 | 374 – 393 | SSLGK…TSLAQ → RDLMEEGHYAQSHWWHPRSQ in isoform 4. 1 PublicationAdd BLAST | 20 | |
Alternative sequenceiVSP_027952 | 394 – 587 | Missing in isoform 4. 1 PublicationAdd BLAST | 194 | |
Alternative sequenceiVSP_027953 | 438 – 587 | Missing in isoform 5. 1 PublicationAdd BLAST | 150 | |
Alternative sequenceiVSP_027954 | 544 – 587 | Missing in isoform 3. 1 PublicationAdd BLAST | 44 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | DQ458779 mRNA Translation: ABE65383.1 AF481877 mRNA Translation: AAO49318.1 AF520568 mRNA Translation: AAM77338.1 AF218022 mRNA Translation: AAG17264.1 AL451085 Genomic DNA No translation available. CH471121 Genomic DNA Translation: EAW53154.1 CH471121 Genomic DNA Translation: EAW53155.1 CH471121 Genomic DNA Translation: EAW53158.1 CH471121 Genomic DNA Translation: EAW53159.1 BC011378 mRNA Translation: AAH11378.1 BC014012 mRNA Translation: AAH14012.2 BC020253 mRNA Translation: AAH20253.1 BC021096 mRNA Translation: AAH21096.2 BC032323 mRNA Translation: AAH32323.1 U79241 mRNA Translation: AAB50199.1 |
CCDSi | CCDS1078.1 [Q8NFF5-1] CCDS1079.1 [Q8NFF5-2] CCDS53371.1 [Q8NFF5-3] CCDS53372.1 [Q8NFF5-4] |
RefSeqi | NP_001171820.1, NM_001184891.1 [Q8NFF5-3] NP_001171821.1, NM_001184892.1 [Q8NFF5-4] NP_079483.3, NM_025207.4 [Q8NFF5-1] NP_958800.1, NM_201398.2 [Q8NFF5-2] |
Genome annotation databases
Ensembli | ENST00000292180; ENSP00000292180; ENSG00000160688 ENST00000315144; ENSP00000317296; ENSG00000160688 [Q8NFF5-2] ENST00000368431; ENSP00000357416; ENSG00000160688 [Q8NFF5-4] ENST00000368432; ENSP00000357417; ENSG00000160688 [Q8NFF5-3] |
GeneIDi | 80308 |
KEGGi | hsa:80308 |
MANE-Selecti | ENST00000292180.8; ENSP00000292180.3; NM_025207.5; NP_079483.3 |
UCSCi | uc001fgc.4, human [Q8NFF5-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | DQ458779 mRNA Translation: ABE65383.1 AF481877 mRNA Translation: AAO49318.1 AF520568 mRNA Translation: AAM77338.1 AF218022 mRNA Translation: AAG17264.1 AL451085 Genomic DNA No translation available. CH471121 Genomic DNA Translation: EAW53154.1 CH471121 Genomic DNA Translation: EAW53155.1 CH471121 Genomic DNA Translation: EAW53158.1 CH471121 Genomic DNA Translation: EAW53159.1 BC011378 mRNA Translation: AAH11378.1 BC014012 mRNA Translation: AAH14012.2 BC020253 mRNA Translation: AAH20253.1 BC021096 mRNA Translation: AAH21096.2 BC032323 mRNA Translation: AAH32323.1 U79241 mRNA Translation: AAB50199.1 |
CCDSi | CCDS1078.1 [Q8NFF5-1] CCDS1079.1 [Q8NFF5-2] CCDS53371.1 [Q8NFF5-3] CCDS53372.1 [Q8NFF5-4] |
RefSeqi | NP_001171820.1, NM_001184891.1 [Q8NFF5-3] NP_001171821.1, NM_001184892.1 [Q8NFF5-4] NP_079483.3, NM_025207.4 [Q8NFF5-1] NP_958800.1, NM_201398.2 [Q8NFF5-2] |
3D structure databases
SMRi | Q8NFF5 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 123221, 104 interactors |
IntActi | Q8NFF5, 36 interactors |
MINTi | Q8NFF5 |
STRINGi | 9606.ENSP00000292180 |
Chemistry databases
ChEMBLi | CHEMBL3879869 |
PTM databases
GlyGeni | Q8NFF5, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q8NFF5 |
PhosphoSitePlusi | Q8NFF5 |
Genetic variation databases
BioMutai | FLAD1 |
DMDMi | 74751275 |
Proteomic databases
EPDi | Q8NFF5 |
jPOSTi | Q8NFF5 |
MassIVEi | Q8NFF5 |
MaxQBi | Q8NFF5 |
PaxDbi | Q8NFF5 |
PeptideAtlasi | Q8NFF5 |
PRIDEi | Q8NFF5 |
ProteomicsDBi | 73297 [Q8NFF5-1] 73298 [Q8NFF5-2] 73299 [Q8NFF5-3] 73300 [Q8NFF5-4] 73301 [Q8NFF5-5] |
Protocols and materials databases
Antibodypediai | 34162, 150 antibodies from 24 providers |
DNASUi | 80308 |
Genome annotation databases
Ensembli | ENST00000292180; ENSP00000292180; ENSG00000160688 ENST00000315144; ENSP00000317296; ENSG00000160688 [Q8NFF5-2] ENST00000368431; ENSP00000357416; ENSG00000160688 [Q8NFF5-4] ENST00000368432; ENSP00000357417; ENSG00000160688 [Q8NFF5-3] |
GeneIDi | 80308 |
KEGGi | hsa:80308 |
MANE-Selecti | ENST00000292180.8; ENSP00000292180.3; NM_025207.5; NP_079483.3 |
UCSCi | uc001fgc.4, human [Q8NFF5-1] |
Organism-specific databases
CTDi | 80308 |
DisGeNETi | 80308 |
GeneCardsi | FLAD1 |
HGNCi | HGNC:24671, FLAD1 |
HPAi | ENSG00000160688, Low tissue specificity |
MalaCardsi | FLAD1 |
MIMi | 255100, phenotype 610595, gene |
neXtProti | NX_Q8NFF5 |
OpenTargetsi | ENSG00000160688 |
Orphaneti | 394532, Multiple acyl-CoA dehydrogenase deficiency, mild type 394529, Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type |
PharmGKBi | PA142671759 |
VEuPathDBi | HostDB:ENSG00000160688 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2644, Eukaryota |
GeneTreei | ENSGT00390000007266 |
HOGENOMi | CLU_030805_8_0_1 |
InParanoidi | Q8NFF5 |
OMAi | IGNVIVM |
OrthoDBi | 1437247at2759 |
PhylomeDBi | Q8NFF5 |
TreeFami | TF314056 |
Enzyme and pathway databases
UniPathwayi | UPA00277;UER00407 |
BRENDAi | 2.7.7.2, 2681 |
PathwayCommonsi | Q8NFF5 |
Reactomei | R-HSA-196843, Vitamin B2 (riboflavin) metabolism |
SABIO-RKi | Q8NFF5 |
SignaLinki | Q8NFF5 |
Miscellaneous databases
BioGRID-ORCSi | 80308, 22 hits in 1047 CRISPR screens |
ChiTaRSi | FLAD1, human |
GenomeRNAii | 80308 |
Pharosi | Q8NFF5, Tbio |
PROi | PR:Q8NFF5 |
RNActi | Q8NFF5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000160688, Expressed in apex of heart and 214 other tissues |
ExpressionAtlasi | Q8NFF5, baseline and differential |
Genevisiblei | Q8NFF5, HS |
Family and domain databases
CDDi | cd00885, cinA, 1 hit cd01713, PAPS_reductase, 1 hit |
Gene3Di | 3.40.50.620, 1 hit 3.40.980.10, 1 hit |
InterProi | View protein in InterPro IPR012183, FAD_synth_MoaB/Mog-bd IPR036425, MoaB/Mog-like_dom_sf IPR001453, MoaB/Mog_dom IPR002500, PAPS_reduct IPR014729, Rossmann-like_a/b/a_fold |
Pfami | View protein in Pfam PF00994, MoCF_biosynth, 1 hit PF01507, PAPS_reduct, 2 hits |
PIRSFi | PIRSF036620, MPTbdFAD, 1 hit |
SMARTi | View protein in SMART SM00852, MoCF_biosynth, 1 hit |
SUPFAMi | SSF53218, SSF53218, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | FAD1_HUMAN | |
Accessioni | Q8NFF5Primary (citable) accession number: Q8NFF5 Secondary accession number(s): Q8N5J1 Q9HBN6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 11, 2007 |
Last sequence update: | October 1, 2002 | |
Last modified: | February 23, 2022 | |
This is version 163 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families