FLAD1 (flavin adenine dinucleotide synthetase 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80308
Gene name Gene Name - the full gene name approved by the HGNC.
Flavin adenine dinucleotide synthetase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FLAD1
Synonyms (NCBI Gene) Gene synonyms aliases
FAD1, FADS, LSMFLAD, PP591
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.3
Summary Summary of gene provided in NCBI Entrez 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 20
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
SNP ID Visualize variation Clinical significance Consequence
rs142224458 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Synonymous variant, coding sequence variant, genic downstream transcript variant
rs199979286 C>T Pathogenic Stop gained, coding sequence variant
rs876661309 CCT>- Pathogenic Coding sequence variant, inframe deletion, genic downstream transcript variant
rs876661310 ->GC Pathogenic Coding sequence variant, frameshift variant
rs876661311 T>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(26)
miRTarBase ID miRNA Experiments Reference
MIRT027748 hsa-miR-98-5p Microarray 19088304
MIRT032427 hsa-let-7b-5p Proteomics 18668040
MIRT032427 hsa-let-7b-5p CLASH 23622248
MIRT044739 hsa-miR-320a CLASH 23622248
MIRT037007 hsa-miR-877-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(29)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003824 Function Catalytic activity IEA
GO:0003919 Function FMN adenylyltransferase activity IBA
GO:0003919 Function FMN adenylyltransferase activity IDA 20060505, 21951714, 38688286
GO:0003919 Function FMN adenylyltransferase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610595 24671 ENSG00000160688
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8NFF5
Protein name FAD synthase (EC 2.7.7.2) (FAD pyrophosphorylase) (FMN adenylyltransferase) (Flavin adenine dinucleotide synthase) [Includes: Molybdenum cofactor biosynthesis protein-like region; FAD synthase region]
Protein function Catalyzes the adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme.
PDB 8ROM , 8RON
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00994 MoCF_biosynth 114 → 276 Probable molybdopterin binding domain Domain
PF01507 PAPS_reduct 398 → 480 Phosphoadenosine phosphosulfate reductase family Family
PF01507 PAPS_reduct 463 → 555 Phosphoadenosine phosphosulfate reductase family Family
Sequence 
MGWDLGTRLFQRQEQRSRLSRIWLEKTRVFLEGSTRTPALPHCLFWLLQVPSTQDPLFPG
YGPQCPVDLAGPPCLRPLFGGLGGYWRALQRGREGRTMTSRASELSPGRSVTAGIIIVGD
EILKGHTQDTNTFFLCRTLRSLGVQVCRVSVVPDEVATIAAEVTSFSNRFTHVLTAGGIG
PTHDDVTFEAVAQAFGDELKPHPKLEAATKALGGEGWEKLSLVPSSARLHYGTDPCTGQP
FRFPLVSVRNVYLFPGIPELLRRVLEGMKGLFQNPAVQFHSKELYVAADEASIAPILAEA
QAHFGRRLGLGSYPDWGSNYYQVKLTLDSEEEGPLEECLAYLTARLPQGSLVPYMPNAVE
QASEAVYKLAESGSSLGKKVAGALQTIETSLAQYSLTQLCVGFNGGKDCTALLHLFHAAV
QRKLPDVPNPLQILYIRSISPFPELEQFLQDTIKRYNLQMLEAEGSMKQALGELQARHPQ
LEAVLMGTRRTDPYSCSLCPFSPTDPGWPAFMRINPLLDWTYRDIWDFLRQLFVPYCILY
DRGYTSLGSRENTVRNPALKCLSPGGHPTYRPAYLLENEEEERNSRT
Sequence length 587
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Riboflavin metabolism
Metabolic pathways
Biosynthesis of cofactors 		  Vitamin B2 (riboflavin) metabolism
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
multiple acyl-coa dehydrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency rs876661311, rs876661314, rs876661309, rs876661313, rs771466122, rs876661315, rs876661312, rs199979286, rs876661310 N/A
Myopathy With Abnormal Lipid Metabolism myopathy with abnormal lipid metabolism rs876661311, rs876661309, rs876661313, rs771466122, rs1057518160, rs876661312, rs199979286, rs876661310 N/A
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Stimulate 34336008
Carcinoma Pancreatic Ductal Associate 37254652
Immunologic Deficiency Syndromes Stimulate 31392824
Immunologic Deficiency Syndromes Associate 31392824
Mitochondrial Diseases Associate 25058219
Multiple Acyl Coenzyme A Dehydrogenase Deficiency Associate 29316637, 31392824
Neoplasms Associate 21242119, 37254652
Neoplasms Stimulate 34336008
Pancreatic Neoplasms Associate 37254652
Stomach Neoplasms Stimulate 32714079