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Aliases for FLAD1 Gene

Aliases for FLAD1 Gene

  • Flavin Adenine Dinucleotide Synthetase 1 2 3 5
  • FMN Adenylyltransferase 3 4
  • FAD Pyrophosphorylase 3 4
  • EC 2.7.7.2 4 61
  • FAD1 Flavin Adenine Dinucleotide Synthetase Homolog (S. Cerevisiae) 2
  • Fad1, Flavin Adenine Dinucleotide Synthetase, Homolog (Yeast) 2
  • Fad1, Flavin Adenine Dinucleotide Synthetase, Homolog 3
  • Flavin Adenine Dinucleotide Synthetase 2
  • Flavin Adenine Dinucleotide Synthase 4
  • FAD-Synthetase 3
  • FAD Synthase 3
  • EC 2.7.7 61
  • LSMFLAD 3
  • PP591 3
  • FAD1 3
  • FADS 3

External Ids for FLAD1 Gene

Previous GeneCards Identifiers for FLAD1 Gene

  • GC01P151769
  • GC01P153222
  • GC01P154955
  • GC01P126317

Summaries for FLAD1 Gene

Entrez Gene Summary for FLAD1 Gene

  • 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]

GeneCards Summary for FLAD1 Gene

FLAD1 (Flavin Adenine Dinucleotide Synthetase 1) is a Protein Coding gene. Diseases associated with FLAD1 include Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency and Glutaric Acidemia Iic. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include FMN adenylyltransferase activity.

UniProtKB/Swiss-Prot for FLAD1 Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FLAD1 Gene

Genomics for FLAD1 Gene

Regulatory Elements for FLAD1 Gene

Enhancers for FLAD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F155015 1.1 Ensembl ENCODE 11.8 +34.6 34563 4.3 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 KIAA0907 ENSG00000271267 MSTO2P LOC101928120 PYGO2 THBS3 ASH1L-AS1 RUSC1-AS1 ADAM15 ZBTB7B
GH01F155010 0.2 ENCODE 11.7 +29.0 29017 4.3 HDGF PKNOX1 ARNT MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 KIAA0907 ZBTB7B LOC101928120 FLAD1 ADAM15 DCST1-AS1 PYGO2 MIR92B EFNA4 ENSG00000251246
GH01F155025 0.6 FANTOM5 11.1 +42.2 42152 0.4 SOX13 ELF3 SAP130 CEBPG ZBTB40 ZNF644 RARA IRF9 ZNF664 PRDM10 ZBTB7B FLAD1 PYGO2 EFNA4 ENSG00000251246 EFNA3 CHRNB2 UBE2Q1 UBE2Q1-AS1 DCST2
GH01F155026 0.7 ENCODE 11.1 +43.5 43486 0.2 HDGF PKNOX1 ARNT SIN3A ZNF2 GLIS2 ZNF143 ZNF207 FOS REST LOC101928120 ASH1L ZBTB7B FLAD1 PYGO2 EFNA4 ENSG00000251246 EFNA3 MSTO2P ASH1L-AS1
GH01F154950 1 ENCODE 11 -28.6 -28566 8.7 PKNOX1 ZFP64 ARID4B SIN3A FOS ZNF263 NFYC REST KAT8 SMARCA4 KIAA0907 ENSG00000271267 MSTO2P THBS3 LOC101928120 PYGO2 RUSC1-AS1 ASH1L-AS1 ASH1L CHRNB2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around FLAD1 on UCSC Golden Path with GeneCards custom track

Promoters for FLAD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000545469 306 2401 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9

Genomic Location for FLAD1 Gene

Chromosome:
1
Start:
154,983,294 bp from pter
End:
154,993,111 bp from pter
Size:
9,818 bases
Orientation:
Plus strand

Genomic View for FLAD1 Gene

Genes around FLAD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FLAD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FLAD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FLAD1 Gene

Proteins for FLAD1 Gene

  • Protein details for FLAD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFF5-FAD1_HUMAN
    Recommended name:
    FAD synthase
    Protein Accession:
    Q8NFF5
    Secondary Accessions:
    • Q8N5J1
    • Q8N686
    • Q8WU93
    • Q8WUJ4
    • Q96CR8
    • Q99764
    • Q9HBN6

    Protein attributes for FLAD1 Gene

    Size:
    587 amino acids
    Molecular mass:
    65266 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FLAD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FLAD1 Gene

Selected DME Specific Peptides for FLAD1 Gene

Post-translational modifications for FLAD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for FLAD1 Gene

Protein Domains for FLAD1 Gene

Suggested Antigen Peptide Sequences for FLAD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NFF5

UniProtKB/Swiss-Prot:

FAD1_HUMAN :
  • The molybdenum cofactor biosynthesis protein-like region may not be functional.
  • In the N-terminal section; belongs to the MoaB/Mog family.
Domain:
  • The molybdenum cofactor biosynthesis protein-like region may not be functional.
Family:
  • In the N-terminal section; belongs to the MoaB/Mog family.
  • In the C-terminal section; belongs to the PAPS reductase family. FAD1 subfamily.
genes like me logo Genes that share domains with FLAD1: view

No data available for Gene Families for FLAD1 Gene

Function for FLAD1 Gene

Molecular function for FLAD1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.5 uM for FMN {ECO:0000269 PubMed:16643857, ECO:0000269 PubMed:17049878}; KM=0.36 uM for FMN (isoform 2) {ECO:0000269 PubMed:16643857, ECO:0000269 PubMed:17049878}; Vmax=6.1 nmol/min/mg enzyme {ECO:0000269 PubMed:16643857, ECO:0000269 PubMed:17049878}; Vmax=3.9 nmol/min/mg enzyme (isoform 2) {ECO:0000269 PubMed:16643857, ECO:0000269 PubMed:17049878};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + FMN = diphosphate + FAD.
UniProtKB/Swiss-Prot Function:
Catalyzes the adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme.

Enzyme Numbers (IUBMB) for FLAD1 Gene

Gene Ontology (GO) - Molecular Function for FLAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003919 FMN adenylyltransferase activity TAS --
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with FLAD1: view

Phenotypes for FLAD1 Gene

GenomeRNAi human phenotypes for FLAD1:
genes like me logo Genes that share phenotypes with FLAD1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for FLAD1

miRNA for FLAD1 Gene

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FLAD1 Gene

Localization for FLAD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FLAD1 Gene

Isoform 1: Mitochondrion matrix.
Isoform 2: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FLAD1 Gene COMPARTMENTS Subcellular localization image for FLAD1 gene
Compartment Confidence
cytosol 5
plasma membrane 5
mitochondrion 4
chloroplast 2
nucleus 2
endoplasmic reticulum 1
extracellular 1

Gene Ontology (GO) - Cellular Components for FLAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with FLAD1: view

Pathways & Interactions for FLAD1 Gene

genes like me logo Genes that share pathways with FLAD1: view

UniProtKB/Swiss-Prot Q8NFF5-FAD1_HUMAN

  • Pathway: Cofactor biosynthesis; FAD biosynthesis; FAD from FMN: step 1/1.

Gene Ontology (GO) - Biological Process for FLAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006747 FAD biosynthetic process IEA --
GO:0006771 riboflavin metabolic process TAS --
GO:0008152 metabolic process IEA --
GO:0055114 oxidation-reduction process IBA --
genes like me logo Genes that share ontologies with FLAD1: view

No data available for SIGNOR curated interactions for FLAD1 Gene

Drugs & Compounds for FLAD1 Gene

(6) Drugs for FLAD1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Phosphoric acid Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Flavin Mononucleotide Experimental Pharma 6
Magnesium Nutra 0

(3) Additional Compounds for FLAD1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with FLAD1: view

Transcripts for FLAD1 Gene

Unigene Clusters for FLAD1 Gene

Flavin adenine dinucleotide synthetase 1:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FLAD1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11 ^
SP1: - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - - - -
SP6: - - - - - - -
SP7: - - - - - - -
SP8: - - - - - - -
SP9: -
SP10: - -
SP11: - - - -
SP12: - -
SP13: - -
SP14: - - -
SP15: - - - - - -
SP16: - - - - -
SP17: - - -

ExUns: 12 ^ 13a · 13b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for FLAD1 Gene

GeneLoc Exon Structure for
FLAD1
ECgene alternative splicing isoforms for
FLAD1

Expression for FLAD1 Gene

mRNA expression in normal human tissues for FLAD1 Gene

Protein differential expression in normal tissues from HIPED for FLAD1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.0), Bone (13.1), and Salivary gland (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FLAD1 Gene



Protein tissue co-expression partners for FLAD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FLAD1 Gene:

FLAD1

SOURCE GeneReport for Unigene cluster for FLAD1 Gene:

Hs.118666
genes like me logo Genes that share expression patterns with FLAD1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FLAD1 Gene

Orthologs for FLAD1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for FLAD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FLAD1 34 35
  • 99.52 (n)
cow
(Bos Taurus)
Mammalia FLAD1 34 35
  • 88.98 (n)
dog
(Canis familiaris)
Mammalia FLAD1 34 35
  • 88.1 (n)
rat
(Rattus norvegicus)
Mammalia Flad1 34
  • 86.84 (n)
mouse
(Mus musculus)
Mammalia Flad1 34 16 35
  • 86.23 (n)
oppossum
(Monodelphis domestica)
Mammalia FLAD1 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FLAD1 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves FLAD1 34 35
  • 64.17 (n)
lizard
(Anolis carolinensis)
Reptilia FLAD1 35
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii flad1 34 35
  • 58.98 (n)
Dr.27212 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1643 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002740 34
  • 53.33 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4407 34 35
  • 51.69 (n)
CG16848 35
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea flad-1 34 35
  • 47.1 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER198W 34
  • 45.94 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAD1 34 35 37
  • 45.77 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E13377g 34
  • 44.96 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU09233 34
  • 50.3 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC1235.04c 34
  • 46.03 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10620 35
  • 44 (a)
OneToOne
Species where no ortholog for FLAD1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for FLAD1 Gene

ENSEMBL:
Gene Tree for FLAD1 (if available)
TreeFam:
Gene Tree for FLAD1 (if available)

Paralogs for FLAD1 Gene

No data available for Paralogs for FLAD1 Gene

Variants for FLAD1 Gene

Sequence variations from dbSNP and Humsavar for FLAD1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_077070 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (LSMFLAD) [MIM:255100]
rs771466122 Pathogenic 154,992,746(+) TTCTG(C/T)GTCAG upstream-variant-2KB, reference, missense
rs876661309 Pathogenic 154,990,458(+) CTACT(-/CCT)GTAGC cds-indel
rs876661310 Pathogenic 154,988,301(+) GAGGC(-/GC)AGTGG reference, frameshift-variant
rs876661311 Pathogenic 154,988,568(+) TCAGT(-/T)CCACT reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for FLAD1 Gene

Variant ID Type Subtype PubMed ID
nsv509502 CNV insertion 20534489

Variation tolerance for FLAD1 Gene

Residual Variation Intolerance Score: 34.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.00; 36.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FLAD1 Gene

Human Gene Mutation Database (HGMD)
FLAD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FLAD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FLAD1 Gene

Disorders for FLAD1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for FLAD1 Gene - From: ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
  • lipid storage myopathy due to flad1 deficiency
glutaric acidemia iic
  • glutaric acidemia iia
riboflavin deficiency
  • rbfvd
brown-vialetto-van laere syndrome
  • bvvls
- elite association - COSMIC cancer census association via MalaCards
Search FLAD1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FLAD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FLAD1
genes like me logo Genes that share disorders with FLAD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FLAD1 Gene

Publications for FLAD1 Gene

  1. Over-expression in Escherichia coli and characterization of two recombinant isoforms of human FAD synthetase. (PMID: 16643857) Brizio C. … Barile M. (Biochem. Biophys. Res. Commun. 2006) 3 4 22 64
  2. Mitochondrial localization of human FAD synthetase isoform 1. (PMID: 20060505) Torchetti E.M. … Barile M. (Mitochondrion 2010) 4 22 64
  3. Specific electron transport chain abnormalities in amyotrophic lateral sclerosis. (PMID: 19240958) Lin J. … Sadiq S.A. (J. Neurol. 2009) 3 22 64
  4. Over-expression in Escherichia coli, purification and characterization of isoform 2 of human FAD synthetase. (PMID: 17049878) Galluccio M. … Barile M. (Protein Expr. Purif. 2007) 4 22 64
  5. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W. … Gibbs R.A. (Genome Res. 1997) 3 4 64

Products for FLAD1 Gene

Sources for FLAD1 Gene

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