Human Gene FLAD1 (uc001fgf.2) Description and Page Index
  Description: Homo sapiens flavin adenine dinucleotide synthetase 1 (FLAD1), transcript variant 1, mRNA.
RefSeq Summary (NM_025207): This gene encodes the enzyme that catalyzes adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr1:154,955,770-154,965,587 Size: 9,818 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr1:154,956,171-154,965,513 Size: 9,343 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:154,955,770-154,965,587)mRNA (may differ from genome)Protein (587 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKB

-  Comments and Description Text from UniProtKB
  ID: FAD1_HUMAN
DESCRIPTION: RecName: Full=FAD synthase; EC=2.7.7.2; AltName: Full=FAD pyrophosphorylase; AltName: Full=FMN adenylyltransferase; AltName: Full=Flavin adenine dinucleotide synthase; Includes: RecName: Full=Molybdenum cofactor biosynthesis protein-like region; Includes: RecName: Full=FAD synthase region;
FUNCTION: Catalyzes the adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme.
CATALYTIC ACTIVITY: ATP + FMN = diphosphate + FAD.
COFACTOR: Magnesium.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=1.5 uM for FMN (PubMed:16643857); KM=0.36 uM for FMN (isoform 2) (PubMed:17049878); Vmax=6.1 nmol/min/mg enzyme (PubMed:16643857); Vmax=3.9 nmol/min/mg enzyme (isoform 2) (PubMed:17049878);
PATHWAY: Cofactor biosynthesis; FAD biosynthesis; FAD from FMN: step 1/1.
DOMAIN: The molybdenum cofactor biosynthesis protein-like region may not be functional.
SIMILARITY: In the N-terminal section; belongs to the MoaB/Mog family.
SIMILARITY: In the C-terminal section; belongs to the PAPS reductase family. FAD1 subfamily.

-  MalaCards Disease Associations
  MalaCards Gene Search: FLAD1
Diseases sorted by gene-association score: lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency* (1331), multiple acyl-coa dehydrogenase deficiency, mild type* (247), glutaric acidemia iic* (209), riboflavin deficiency (9), brown-vialetto-van laere syndrome (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.46 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 325.29 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -108.30401-0.270 Picture PostScript Text
3' UTR -25.6074-0.346 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012183 - FAD_synth_Mopterin-bd
IPR001453 - Mopterin-bd
IPR002500 - PAPS_reduct
IPR014729 - Rossmann-like_a/b/a_fold

Pfam Domains:
PF00994 - Probable molybdopterin binding domain
PF01507 - Phosphoadenosine phosphosulfate reductase family

SCOP Domains:
52402 - Adenine nucleotide alpha hydrolases-like
53218 - Molybdenum cofactor biosynthesis proteins

ModBase Predicted Comparative 3D Structure on Q8NFF5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene Details  Gene DetailsGene DetailsGene Details
Gene Sorter  Gene SorterGene SorterGene Sorter
  EnsemblFlyBaseWormBaseSGD
  Protein SequenceProtein SequenceProtein SequenceProtein Sequence
  AlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003824 catalytic activity
GO:0003919 FMN adenylyltransferase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016740 transferase activity
GO:0016779 nucleotidyltransferase activity

Biological Process:
GO:0006747 FAD biosynthetic process
GO:0006771 riboflavin metabolic process
GO:0008152 metabolic process
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  LF206186 - JP 2014500723-A/13689: Polycomb-Associated Non-Coding RNAs.
AK090542 - Homo sapiens cDNA FLJ33223 fis, clone ASTRO2000914, highly similar to Homo sapiens Fad1, flavin adenine dinucleotide synthetase, homolog (yeast) (FLAD1), transcript variant 1, mRNA.
AX746501 - Sequence 26 from Patent EP1308459.
BC032323 - Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae), mRNA (cDNA clone MGC:40255 IMAGE:5242727), complete cds.
AK308243 - Homo sapiens cDNA, FLJ98191.
BC011378 - Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae), mRNA (cDNA clone MGC:9754 IMAGE:3855223), complete cds.
AK025979 - Homo sapiens cDNA: FLJ22326 fis, clone HRC05564, highly similar to HSU79241 Human clone 23759 mRNA.
AF218022 - Homo sapiens clone PP591 unknown mRNA.
AF520568 - Homo sapiens unknown mRNA.
JD488673 - Sequence 469697 from Patent EP1572962.
BC021096 - Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae), mRNA (cDNA clone MGC:31803 IMAGE:4891331), complete cds.
LF352243 - JP 2014500723-A/159746: Polycomb-Associated Non-Coding RNAs.
DQ458779 - Homo sapiens FAD synthetase isoform 1 (FLAD1) mRNA, complete cds.
JD387995 - Sequence 369019 from Patent EP1572962.
JD103608 - Sequence 84632 from Patent EP1572962.
KJ894809 - Synthetic construct Homo sapiens clone ccsbBroadEn_04203 FLAD1 gene, encodes complete protein.
DQ890979 - Synthetic construct clone IMAGE:100003609; FLH168194.01X; RZPDo839D0592D FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1) gene, encodes complete protein.
DQ894152 - Synthetic construct Homo sapiens clone IMAGE:100008612; FLH168191.01L; RZPDo839D0591D FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1) gene, encodes complete protein.
CU689332 - Synthetic construct Homo sapiens gateway clone IMAGE:100019640 5' read FLAD1 mRNA.
AF481877 - Homo sapiens FAD-synthetase mRNA, complete cds.
AY545550 - Homo sapiens PP591-like mRNA, complete sequence.
BC014012 - Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:3958757), partial cds.
LF352240 - JP 2014500723-A/159743: Polycomb-Associated Non-Coding RNAs.
U79241 - Human clone 23759 mRNA, partial cds.
BC020253 - Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:4859717), partial cds.
JD518890 - Sequence 499914 from Patent EP1572962.
MA587820 - JP 2018138019-A/159746: Polycomb-Associated Non-Coding RNAs.
MA587817 - JP 2018138019-A/159743: Polycomb-Associated Non-Coding RNAs.
MA441763 - JP 2018138019-A/13689: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00740 - Riboflavin metabolism
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY3DJ-81 - riboflavin, FMN and FAD transformations
PWY66-366 - flavin biosynthesis IV (mammalian)

Reactome (by CSHL, EBI, and GO)

Protein Q8NFF5 (Reactome details) participates in the following event(s):

R-HSA-196929 FLAD1 phosphorylates FMN
R-HSA-196843 Vitamin B2 (riboflavin) metabolism
R-HSA-196849 Metabolism of water-soluble vitamins and cofactors
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: FAD1_HUMAN, NM_025207, NP_958800, PP591, Q8N5J1, Q8N686, Q8NFF5, Q8WU93, Q8WUJ4, Q96CR8, Q99764, Q9HBN6
UCSC ID: uc001fgf.2
RefSeq Accession: NM_025207
Protein: Q8NFF5 (aka FAD1_HUMAN)
CCDS: CCDS1078.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_025207.4
exon count: 7CDS single in 3' UTR: no RNA size: 2260
ORF size: 1764CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3255.50frame shift in genome: no % Coverage: 99.07
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 548# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.