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Protein

FAD synthase

Gene

FLAD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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)
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

GO - Biological processi

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.
UniPathwayiUPA00277; 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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:24671. FLAD1.

Subcellular locationi

Isoform 1 :

GO - Cellular componenti

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:rs771466122Ensembl.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi80308.
MIMi255100. phenotype.
OpenTargetsiENSG00000160688.
PharmGKBiPA142671759.

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.

PTM databases

iPTMnetiQ8NFF5.
PhosphoSitePlusiQ8NFF5.

Expressioni

Gene expression databases

BgeeiENSG00000160688.
CleanExiHS_FLAD1.
ExpressionAtlasiQ8NFF5. baseline and differential.
GenevisibleiQ8NFF5. HS.

Organism-specific databases

HPAiHPA028476.
HPA028486.
HPA028563.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi123221. 37 interactors.
IntActiQ8NFF5. 26 interactors.
MINTiMINT-3042841.
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.
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

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

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:rs771466122Ensembl.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. Translation: CAI13259.1.
AL451085 Genomic DNA. Translation: CAI13260.1.
AL451085 Genomic DNA. Translation: CAI13261.1.
AL451085 Genomic DNA. Translation: CAI13262.1.
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

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: August 30, 2017
This is version 132 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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families