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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] See more...
Aliases for FLAD1 Gene
Aliases for FLAD1 Gene
External Ids for FLAD1 Gene
- HGNC: 24671
- Entrez Gene: 80308
- Ensembl: ENSG00000160688
- OMIM: 610595
- UniProtKB: Q8NFF5
Previous GeneCards Identifiers for FLAD1 Gene
- GC01P151769
- GC01P153222
- GC01P154955
- GC01P126317
Summaries 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 Folate Metabolism and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include FMN adenylyltransferase activity.
UniProtKB/Swiss-Prot Summary for FLAD1 Gene
-
Catalyzes the adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme.
Additional gene information for FLAD1 Gene
- HGNC(24671)
- Entrez Gene(80308)
- Ensembl(ENSG00000160688)
- OMIM(610595)
- UniProtKB(Q8NFF5)
- Open Targets Platform(ENSG00000160688)
- Monarch Initiative
- Search for FLAD1 at DataMed
- Search for FLAD1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FLAD1 Gene
Genomics for FLAD1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FLAD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around FLAD1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FLAD1
- Top Transcription factor binding sites by QIAGEN in the FLAD1 gene promoter:
-
- AP-1
- ATF-2
- c-Jun
- CREB
- deltaCREB
Genomic Locations for FLAD1 Gene
Genomic Locations for FLAD1 Gene
- chr1:154,983,338-154,993,111
- (GRCh38/hg38)
- Size:
- 9,774 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:
-
- 1q21.3 by HGNC
- 1q21.3 by Entrez Gene
- 1q21.3 by Ensembl
FLAD1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for FLAD1 Gene
Selected DME Specific Peptides for FLAD1 Gene
- Q8NFF5:
-
- AVLMGTRRTDPYS
- GDEILKGHTQDTN
- GGIGPTHDDVTFE
- FLQDTIKRY
- TSRASEL
Post-translational modifications for FLAD1 Gene
Other Protein References for FLAD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-FLAD1 monoclonal antibody
-
Custom Antibody ServicesOriGene Antibodies for FLAD1
- Novus Biologicals Antibodies for FLAD1
-
Abcam antibodies for FLAD1
- Invitrogen Antibodies for FLAD1 (AFLGC-FLAD1)
- antibodies-online: Show 13 available FAD Synthetase Antibodies ranked by validation data
-
Biorbyt antibodies for FLAD1
-
Boster Bio Antibodies for FLAD1
-
Santa Cruz Biotechnology (SCBT) Antibodies for FLAD1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for FLAD1
- Origene Custom Protein Services for FLAD1
-
Signalway Proteins for FLAD1
Domains & Families for FLAD1 Gene
Gene Families for FLAD1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for FLAD1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FLAD1 Gene
- GenScript: Design optimal peptide antigens:
-
- Flavin adenine dinucleotide synthase (FAD1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8NFF5UniProtKB/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.
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:
- Reaction=ATP + FMN + H(+) = diphosphate + FAD; Xref=Rhea:RHEA:17237, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57692, ChEBI:CHEBI:58210; EC=2.7.7.2; Evidence={ECO:0000269|PubMed:16643857};.
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0003919 | FMN adenylyltransferase activity | TAS | -- |
| GO:0005515 | protein binding | IPI | 25416956 |
| GO:0005524 | ATP binding | IEA | -- |
Phenotypes for FLAD1 Gene
- GenomeRNAi human phenotypes for FLAD1:
Animal Model Products
-
Taconic Biosciences Mouse Models for FLAD1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FLAD1 - Select products 50% OFF >
- * FLAD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FLAD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FLAD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for FLAD1
miRNA for FLAD1 Gene
- miRTarBase miRNAs that target FLAD1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FLAD1
- Browse OriGene Inhibitory RNA Products For FLAD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLAD1
Clone Products
- Applied Biological Materials (abm): Clones for FLAD1 - Select products 50% OFF >
- * FLAD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG207892
- MR207892
- MR207892L3
- MR207892L4
- RC207083
- RC207083L3
- RC207083L4
- RC222189
- RC222189L3
- RC222189L4
- RC229845
- RC229845L3
- RC229845L4
- RC230098
- RC230098L3
- RC230098L4
- RG207083
- RG222189
- RG229845
- RG230098
- RR201046
- RR201046L3
- RR201046L4
- MR207892L3V
- MR207892L4V
- RC207083L3V
- RC207083L4V
- RC222189L3V
- RC222189L4V
- RC229845L3V
- RC229845L4V
- RC230098L3V
- RC230098L4V
- RR201046L3V
- RR201046L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FLAD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FLAD1
Cell Line Products
-
Horizon Cell Lines for FLAD1
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.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| plasma membrane | 4 |
| mitochondrion | 4 |
| nucleus | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005759 | mitochondrial matrix | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005886 | plasma membrane | IDA | -- |
Pathways & Interactions for FLAD1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of water-soluble vitamins and cofactors | ||
| 2 | Metabolism |
.40
|
|
| 3 | Folate Metabolism | ||
| 4 | Riboflavin metabolism | ||
Pathways by source for FLAD1 Gene
3 BioSystems pathways for FLAD1 Gene
4 Reactome pathways for FLAD1 Gene
2 KEGG pathways for FLAD1 Gene
UniProtKB/Swiss-Prot Q8NFF5-FAD1_HUMAN
- Pathway: Cofactor biosynthesis; FAD biosynthesis; FAD from FMN: step 1/1.
Interacting Proteins for FLAD1 Gene
Selected Interacting proteins:
Q8NFF5-FAD1_HUMAN
ENSP00000292180
for FLAD1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for FLAD1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006747 | FAD biosynthetic process | IBA,IEA | -- |
| GO:0006771 | riboflavin metabolic process | TAS | -- |
No data available for SIGNOR curated interactions for FLAD1 Gene
Drugs & Compounds for FLAD1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Flavin Mononucleotide | Approved, Investigational | Pharma | 12 | |||
| FAD | Approved | Pharma | 0 | |||
| Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
| Phosphoric acid | Approved | Pharma | 0 | |||
| ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
Transcripts for FLAD1 Gene
mRNA/cDNA for FLAD1 Gene
- 4 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000292180 2189 nts (view in UCSC)
- ENST00000295530 1211 nts (view in UCSC)
- ENST00000315144 1730 nts (view in UCSC)
- ENST00000368428 1111 nts (view in UCSC)
- ENST00000368431 1803 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FLAD1 - Select products 50% OFF >
- * FLAD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FLAD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FLAD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for FLAD1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FLAD1
- Browse OriGene Inhibitory RNA Products For FLAD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FLAD1
Clone Products
- Applied Biological Materials (abm): Clones for FLAD1 - Select products 50% OFF >
- * FLAD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG207892
- MR207892
- MR207892L3
- MR207892L4
- RC207083
- RC207083L3
- RC207083L4
- RC222189
- RC222189L3
- RC222189L4
- RC229845
- RC229845L3
- RC229845L4
- RC230098
- RC230098L3
- RC230098L4
- RG207083
- RG222189
- RG229845
- RG230098
- RR201046
- RR201046L3
- RR201046L4
- MR207892L3V
- MR207892L4V
- RC207083L3V
- RC207083L4V
- RC222189L3V
- RC222189L4V
- RC229845L3V
- RC229845L4V
- RC230098L3V
- RC230098L4V
- RR201046L3V
- RR201046L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FLAD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FLAD1
| 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
Expression 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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FLAD1
SOURCE GeneReport for Unigene cluster for FLAD1 Gene:
Hs.118666Evidence on tissue expression from TISSUES for FLAD1 Gene
- Nervous system(4.8)
- Intestine(4.4)
- Liver(4.4)
- Skin(4.4)
Primer Products
-
OriGene qPCR primer pairs for FLAD1
-
OriGene qPCR primer pairs and template standards for FLAD1
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FLAD1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | FLAD1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FLAD1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Flad1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Flad1 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | FLAD1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | FLAD1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | FLAD1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | FLAD1 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | flad1 30 31 |
|
OneToOne | |
| Dr.27212 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1643 30 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002740 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG4407 30 31 |
|
OneToMany | |
| CG16848 31 |
|
OneToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | flad-1 30 31 |
|
OneToOne | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AER198W 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | FAD1 30 31 33 33 |
|
OneToOne | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E13377g 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU09233 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPCC1235.04c 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10620 31 |
|
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 Vase (Ciona intestinalis)
- 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FLAD1 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 676267 | Benign: not provided | 154,983,248(+) | C/T | ||
| 676268 | Benign: not provided | 154,987,406(+) | A/G | INTRON_VARIANT | |
| 676269 | Benign: not provided | 154,987,543(+) | T/G | FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
| 676270 | Benign: not provided | 154,992,637(+) | G/T | INTRON_VARIANT | |
| 725543 | Likely Benign: not provided | 154,992,757(+) | T/C | SYNONYMOUS_VARIANT |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FLAD1 Gene
Disorders for FLAD1 Gene
(11) MalaCards diseases for FLAD1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency |
|
|
| multiple acyl-coa dehydrogenase deficiency |
|
|
| multiple acyl-coa dehydrogenase deficiency, mild type |
|
|
| multiple acyl-coa dehydrogenase deficiency, severe neonatal type |
|
|
| acyl-coa dehydrogenase deficiency |
|
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Search FLAD1 in MalaCards
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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
No data available for Genatlas for FLAD1 Gene
Publications for FLAD1 Gene
- 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 23
- 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
- Mitochondrial localization of human FAD synthetase isoform 1. (PMID: 20060505) Torchetti EM … Barile M (Mitochondrion 2010) 4 23
- Specific electron transport chain abnormalities in amyotrophic lateral sclerosis. (PMID: 19240958) Lin J … Sadiq SA (Journal of neurology 2009) 3 23
- 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 23
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