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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
  • 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 2.7.7.2 4
  • 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 Multiple Acyl-Coa Dehydrogenase Deficiency. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (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.

Additional gene information for FLAD1 Gene

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

Genomics for FLAD1 Gene

GeneHancer (GH) Regulatory Elements for FLAD1 Gene

Promoters and enhancers for FLAD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J154982 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 662.1 +0.4 358 2.8 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 FLAD1 GON4L UBAP2L SHC1 YY1AP1 KHDC4 CLK2 THBS3 ENSG00000271267 DAP3
GH01J154985 Promoter 0.7 EPDnew 650.7 +1.9 1900 0.1 ZNF121 ZNF362 FLAD1 LENEP
GH01J155242 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 70.3 +260.9 260948 2.9 FEZF1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 GBA GON4L KHDC4 CLK2 ENSG00000271267 MSTO1 MSTO2P RUSC1-AS1 THBS3 SHC1
GH01J154998 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 44.3 +21.2 21157 11.3 CLOCK MLX YBX1 DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 SP3 ZBTB7B GON4L CLK2 UBAP2L KHDC4 ENSG00000271267 THBS3 RUSC1-AS1 SHC1 MSTO1
GH01J154965 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 31.5 -11.2 -11240 12.2 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 SHC1 CKS1B UBAP2L GON4L CLK2 KHDC4 THBS3 YY1AP1 KRTCAP2 ENSG00000271267
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FLAD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FLAD1 gene promoter:
  • AP-1
  • ATF-2
  • CREB
  • deltaCREB
  • c-Jun

Genomic Locations for FLAD1 Gene

Genomic Locations for FLAD1 Gene
chr1:154,983,294-154,993,111
(GRCh38/hg38)
Size:
9,818 bases
Orientation:
Plus strand
chr1:154,955,770-154,965,587
(GRCh37/hg19)
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

Post-translational modifications for FLAD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Boster Bio Antibodies for FLAD1

No data available for DME Specific Peptides for FLAD1 Gene

Domains & Families for FLAD1 Gene

Gene Families for FLAD1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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

Function for FLAD1 Gene

Molecular function for FLAD1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + FMN = diphosphate + FAD.
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};

Enzyme Numbers (IUBMB) for FLAD1 Gene

Phenotypes From GWAS Catalog 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

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

Human Phenotype Ontology for FLAD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for FLAD1

CRISPR Products

miRNA for FLAD1 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLAD1

Clone Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FLAD1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
mitochondrion 4
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FLAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
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 IBA,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
Flavin Mononucleotide Approved, Investigational Pharma 8
FAD Approved Pharma 0
Phosphoric acid Approved Pharma 0
Magnesium Approved Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with FLAD1: view

Transcripts for FLAD1 Gene

mRNA/cDNA for FLAD1 Gene

Unigene Clusters for FLAD1 Gene

Flavin adenine dinucleotide synthetase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLAD1

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, 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

Evidence on tissue expression from TISSUES for FLAD1 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Intestine(4.3)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with FLAD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.52 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FLAD1 34 33
  • 88.98 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FLAD1 34 33
  • 88.1 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Flad1 33
  • 86.84 (n)
mouse
(Mus musculus)
Mammalia Flad1 16 34 33
  • 86.23 (n)
oppossum
(Monodelphis domestica)
Mammalia FLAD1 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FLAD1 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves FLAD1 34 33
  • 64.17 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FLAD1 34
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii flad1 34 33
  • 58.98 (n)
OneToOne
Dr.27212 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1643 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002740 33
  • 53.33 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4407 34 33
  • 51.69 (n)
OneToMany
CG16848 34
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea flad-1 34 33
  • 47.1 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER198W 33
  • 45.94 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FAD1 36 34 33
  • 45.77 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E13377g 33
  • 44.96 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU09233 33
  • 50.3 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC1235.04c 33
  • 46.03 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10620 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FLAD1: view image

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 Variation AA Info Type
rs761928040 likely-benign, Glutaric aciduria, type 2 154,988,240(+) T/C coding_sequence_variant, missense_variant
rs771466122 pathogenic, Glutaric aciduria, type 2, Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, not provided, Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (LSMFLAD) [MIM:255100] 154,992,746(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs876661309 pathogenic, Glutaric aciduria, type 2, Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 154,990,456(+) CTCCT/CT coding_sequence_variant, genic_downstream_transcript_variant, inframe_deletion
rs876661310 pathogenic, Glutaric aciduria, type 2, Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 154,988,300(+) GC/GCGC coding_sequence_variant, frameshift
rs876661311 pathogenic, Glutaric aciduria, type 2, Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 154,988,567(+) TT/T coding_sequence_variant, frameshift

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)

Additional Variant Information for FLAD1 Gene

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

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

FAD1_HUMAN
  • Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (LSMFLAD) [MIM:255100]: An 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. {ECO:0000269 PubMed:27259049}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FLAD1

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

No data available for 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 (Biochemical and biophysical research communications 2006) 3 4 22 58
  2. Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. (PMID: 27259049) Olsen RKJ … Prokisch H (American journal of human genetics 2016) 3 4 58
  3. Mitochondrial localization of human FAD synthetase isoform 1. (PMID: 20060505) Torchetti EM … Barile M (Mitochondrion 2010) 4 22 58
  4. Specific electron transport chain abnormalities in amyotrophic lateral sclerosis. (PMID: 19240958) Lin J … Sadiq SA (Journal of neurology 2009) 3 22 58
  5. Over-expression in Escherichia coli, purification and characterization of isoform 2 of human FAD synthetase. (PMID: 17049878) Galluccio M … Barile M (Protein expression and purification 2007) 4 22 58

Products for FLAD1 Gene

Sources for FLAD1 Gene

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