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UniProtKB - Q8NFF5 (FAD1_HUMAN)

Protein

FAD synthase

Gene

FLAD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes the adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme.2 Publications

Catalytic activityi

ATP + FMN = diphosphate + FAD.1 Publication

Cofactori

Mg2+2 Publications

Kineticsi

  1. KM=1.5 µM for FMN2 Publications
  2. KM=0.36 µM for FMN (isoform 2)2 Publications
  1. Vmax=6.1 nmol/min/mg enzyme2 Publications
  2. Vmax=3.9 nmol/min/mg enzyme (isoform 2)2 Publications

Pathwayi: FAD biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes FAD from FMN.
Proteins known to be involved in this subpathway in this organism are:
  1. FAD synthase (FLAD1), FAD synthase, FAD synthase (FLAD1)
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
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionNucleotidyltransferase, Transferase
LigandATP-binding, FAD, Flavoprotein, FMN, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS08520-MONOMER
BRENDAi2.7.7.2 2681
ReactomeiR-HSA-196843 Vitamin B2 (riboflavin) metabolism
SABIO-RKiQ8NFF5
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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000160688.18
HGNCiHGNC:24671 FLAD1
MIMi610595 gene
neXtProtiNX_Q8NFF5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (LSMFLAD)1 Publication
The disease is caused by mutations 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.
See also OMIM:255100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077070530R → 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 mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi80308
MalaCardsiFLAD1
MIMi255100 phenotype
OpenTargetsiENSG00000160688
Orphaneti394532 Multiple acyl-CoA dehydrogenase deficiency, mild type
394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
PharmGKBiPA142671759

Chemistry databases

ChEMBLiCHEMBL3879869

Polymorphism and mutation databases

BioMutaiFLAD1
DMDMi74751275

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 17MitochondrionSequence analysisAdd BLAST17
ChainiPRO_000030273718 – 587FAD synthaseAdd BLAST570

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei106PhosphoserineCombined sources1
Modified residuei378N6-acetyllysine; alternateBy similarity1
Modified residuei378N6-succinyllysine; alternateBy similarity1
Modified residuei563PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ8NFF5
MaxQBiQ8NFF5
PaxDbiQ8NFF5
PeptideAtlasiQ8NFF5
PRIDEiQ8NFF5
ProteomicsDBi73297
73298 [Q8NFF5-2]
73299 [Q8NFF5-3]
73300 [Q8NFF5-4]
73301 [Q8NFF5-5]

PTM databases

iPTMnetiQ8NFF5
PhosphoSitePlusiQ8NFF5

Expressioni

Gene expression databases

BgeeiENSG00000160688 Expressed in 200 organ(s), highest expression level in apex of heart
CleanExiHS_FLAD1
ExpressionAtlasiQ8NFF5 baseline and differential
GenevisibleiQ8NFF5 HS

Organism-specific databases

HPAiHPA028476
HPA028486
HPA028563

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi123221, 38 interactors
IntActiQ8NFF5, 30 interactors
MINTiQ8NFF5
STRINGi9606.ENSP00000292180

Structurei

3D structure databases

ProteinModelPortaliQ8NFF5
SMRiQ8NFF5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni114 – 205Molybdenum cofactor biosynthesis protein-likeAdd BLAST92
Regioni398 – 555FAD synthaseAdd BLAST158

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
In the C-terminal section; belongs to the PAPS reductase family. FAD1 subfamily.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiENOG410IMG8 Eukaryota
KOG2644 Eukaryota
COG0175 LUCA
COG1058 LUCA
GeneTreeiENSGT00390000007266
HOVERGENiHBG058211
InParanoidiQ8NFF5
KOiK00953
OMAiTYQSIAK
OrthoDBiEOG091G0PRM
PhylomeDBiQ8NFF5
TreeFamiTF314056

Family and domain databases

CDDicd00885 cinA, 1 hit
cd01713 PAPS_reductase, 1 hit
Gene3Di3.40.50.620, 1 hit
3.40.980.10, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF00994 MoCF_biosynth, 1 hit
PF01507 PAPS_reduct, 2 hits
PIRSFiPIRSF036620 MPTbdFAD, 1 hit
SMARTiView protein in SMART
SM00852 MoCF_biosynth, 1 hit
SUPFAMiSSF53218 SSF53218, 1 hit

Sequences (5+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:587
Mass (Da):65,266
Last modified:October 1, 2002 - v1
Checksum:iF95918B15D9D8106
GO
Isoform 2 (identifier: Q8NFF5-2) [UniParc]FASTAAdd to basket
Also known as: FADS21 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1-97: Missing.

Show »
Length:490
Mass (Da):54,188
Checksum:i633D7949AB88E059
GO
Isoform 3 (identifier: Q8NFF5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-97: Missing.
     544-587: Missing.

Show »
Length:446
Mass (Da):49,198
Checksum:i2983E4FA84020CDF
GO
Isoform 4 (identifier: Q8NFF5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-30: Missing.
     31-124: LEGSTRTPAL...IIIVGDEILK → MQPSSSTPPLHPYSTDGLIFPFNPQ
     374-393: SSLGKKVAGALQTIETSLAQ → RDLMEEGHYAQSHWWHPRSQ
     394-587: Missing.

Show »
Length:294
Mass (Da):32,369
Checksum:i5CEF3426F7FEDEF5
GO
Isoform 5 (identifier: Q8NFF5-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-30: Missing.
     31-124: LEGSTRTPAL...IIIVGDEILK → MQPSSSTPPLHPYSTDGLIFPFNPQ
     374-437: SSLGKKVAGA...PNPLQILYIR → NYLMFQTPSR...WMGPFPGQQG
     438-587: Missing.

Show »
Length:338
Mass (Da):36,865
Checksum:i2BB52386763E2A9B
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5T196Q5T196_HUMAN
FAD synthase
FLAD1 hCG_20019
456Annotation score:
Q5T190Q5T190_HUMAN
FAD synthase
FLAD1
128Annotation score:
Q5T191Q5T191_HUMAN
FAD synthase
FLAD1 hCG_20019
170Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077069107P → L1 PublicationCorresponds to variant dbSNP:rs773925274Ensembl.1
Natural variantiVAR_077070530R → 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 keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0279471 – 97Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST97
Alternative sequenceiVSP_0279481 – 30Missing in isoform 4 and isoform 5. 2 PublicationsAdd BLAST30
Alternative sequenceiVSP_02794931 – 124LEGST…DEILK → MQPSSSTPPLHPYSTDGLIF PFNPQ in isoform 4 and isoform 5. 2 PublicationsAdd BLAST94
Alternative sequenceiVSP_027950374 – 437SSLGK…ILYIR → NYLMFQTPSRSCISAASPLS LSWNSFYRTLSREQAIPENQ IASPPSEAKGAEEPWMGPFP GQQG in isoform 5. 1 PublicationAdd BLAST64
Alternative sequenceiVSP_027951374 – 393SSLGK…TSLAQ → RDLMEEGHYAQSHWWHPRSQ in isoform 4. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_027952394 – 587Missing in isoform 4. 1 PublicationAdd BLAST194
Alternative sequenceiVSP_027953438 – 587Missing in isoform 5. 1 PublicationAdd BLAST150
Alternative sequenceiVSP_027954544 – 587Missing in isoform 3. 1 PublicationAdd BLAST44

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
CCDSiCCDS1078.1 [Q8NFF5-1]
CCDS1079.1 [Q8NFF5-2]
CCDS53371.1 [Q8NFF5-3]
CCDS53372.1 [Q8NFF5-4]
RefSeqiNP_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]
UniGeneiHs.118666

Genome annotation databases

EnsembliENST00000292180; ENSP00000292180; ENSG00000160688 [Q8NFF5-1]
ENST00000315144; ENSP00000317296; ENSG00000160688 [Q8NFF5-2]
ENST00000368431; ENSP00000357416; ENSG00000160688 [Q8NFF5-4]
ENST00000368432; ENSP00000357417; ENSG00000160688 [Q8NFF5-3]
GeneIDi80308
KEGGihsa:80308
UCSCiuc001fgc.4 human [Q8NFF5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS1078.1 [Q8NFF5-1]
CCDS1079.1 [Q8NFF5-2]
CCDS53371.1 [Q8NFF5-3]
CCDS53372.1 [Q8NFF5-4]
RefSeqiNP_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]
UniGeneiHs.118666

3D structure databases

ProteinModelPortaliQ8NFF5
SMRiQ8NFF5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123221, 38 interactors
IntActiQ8NFF5, 30 interactors
MINTiQ8NFF5
STRINGi9606.ENSP00000292180

Chemistry databases

ChEMBLiCHEMBL3879869

PTM databases

iPTMnetiQ8NFF5
PhosphoSitePlusiQ8NFF5

Polymorphism and mutation databases

BioMutaiFLAD1
DMDMi74751275

Proteomic databases

EPDiQ8NFF5
MaxQBiQ8NFF5
PaxDbiQ8NFF5
PeptideAtlasiQ8NFF5
PRIDEiQ8NFF5
ProteomicsDBi73297
73298 [Q8NFF5-2]
73299 [Q8NFF5-3]
73300 [Q8NFF5-4]
73301 [Q8NFF5-5]

Protocols and materials databases

DNASUi80308
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000292180; ENSP00000292180; ENSG00000160688 [Q8NFF5-1]
ENST00000315144; ENSP00000317296; ENSG00000160688 [Q8NFF5-2]
ENST00000368431; ENSP00000357416; ENSG00000160688 [Q8NFF5-4]
ENST00000368432; ENSP00000357417; ENSG00000160688 [Q8NFF5-3]
GeneIDi80308
KEGGihsa:80308
UCSCiuc001fgc.4 human [Q8NFF5-1]

Organism-specific databases

CTDi80308
DisGeNETi80308
EuPathDBiHostDB:ENSG00000160688.18
GeneCardsiFLAD1
HGNCiHGNC:24671 FLAD1
HPAiHPA028476
HPA028486
HPA028563
MalaCardsiFLAD1
MIMi255100 phenotype
610595 gene
neXtProtiNX_Q8NFF5
OpenTargetsiENSG00000160688
Orphaneti394532 Multiple acyl-CoA dehydrogenase deficiency, mild type
394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
PharmGKBiPA142671759
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IMG8 Eukaryota
KOG2644 Eukaryota
COG0175 LUCA
COG1058 LUCA
GeneTreeiENSGT00390000007266
HOVERGENiHBG058211
InParanoidiQ8NFF5
KOiK00953
OMAiTYQSIAK
OrthoDBiEOG091G0PRM
PhylomeDBiQ8NFF5
TreeFamiTF314056

Enzyme and pathway databases

UniPathwayi
UPA00277;UER00407

BioCyciMetaCyc:HS08520-MONOMER
BRENDAi2.7.7.2 2681
ReactomeiR-HSA-196843 Vitamin B2 (riboflavin) metabolism
SABIO-RKiQ8NFF5

Miscellaneous databases

ChiTaRSiFLAD1 human
GenomeRNAii80308
PROiPR:Q8NFF5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000160688 Expressed in 200 organ(s), highest expression level in apex of heart
CleanExiHS_FLAD1
ExpressionAtlasiQ8NFF5 baseline and differential
GenevisibleiQ8NFF5 HS

Family and domain databases

CDDicd00885 cinA, 1 hit
cd01713 PAPS_reductase, 1 hit
Gene3Di3.40.50.620, 1 hit
3.40.980.10, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF00994 MoCF_biosynth, 1 hit
PF01507 PAPS_reduct, 2 hits
PIRSFiPIRSF036620 MPTbdFAD, 1 hit
SMARTiView protein in SMART
SM00852 MoCF_biosynth, 1 hit
SUPFAMiSSF53218 SSF53218, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiFAD1_HUMAN
AccessioniPrimary (citable) accession number: Q8NFF5
Secondary accession number(s): Q8N5J1
, Q8N686, Q8WU93, Q8WUJ4, Q96CR8, Q99764, Q9HBN6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: October 1, 2002
Last modified: November 7, 2018
This is version 142 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
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