Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	80308
Gene name	Flavin adenine dinucleotide synthetase 1
Gene symbol	FLAD1
Synonyms (NCBI Gene)	FAD1FADSLSMFLADPP591
Chromosome	1
Chromosome location	1q21.3
Summary	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

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
rs876661312	GCAGGGGGCATC>CA	Pathogenic	Coding sequence variant, frameshift variant
rs876661313	TTCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs876661314	G>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs876661315	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518160	C>A	Pathogenic	Stop gained, coding sequence variant
rs1170313629	GTCCCCTACATGCCCAACGCTG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1571488364	TGAGGGCAGC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant

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
MIRT736650	hsa-let-7b-3p	Microarray	32824926
MIRT998174	hsa-miR-1266	CLIP-seq
MIRT998175	hsa-miR-1286	CLIP-seq
MIRT998176	hsa-miR-1913	CLIP-seq
MIRT998177	hsa-miR-3182	CLIP-seq
MIRT998178	hsa-miR-324-3p	CLIP-seq
MIRT998179	hsa-miR-3664-3p	CLIP-seq
MIRT998180	hsa-miR-4270	CLIP-seq
MIRT998181	hsa-miR-4290	CLIP-seq
MIRT998182	hsa-miR-4441	CLIP-seq
MIRT998183	hsa-miR-4518	CLIP-seq
MIRT998184	hsa-miR-4722-5p	CLIP-seq
MIRT998185	hsa-miR-4727-5p	CLIP-seq
MIRT998186	hsa-miR-4729	CLIP-seq
MIRT998187	hsa-miR-7	CLIP-seq
MIRT2229834	hsa-miR-204	CLIP-seq
MIRT2229835	hsa-miR-211	CLIP-seq
MIRT2229836	hsa-miR-3938	CLIP-seq
MIRT2229837	hsa-miR-4755-5p	CLIP-seq
MIRT2229838	hsa-miR-623	CLIP-seq
MIRT2229839	hsa-miR-660	CLIP-seq

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
GO:0003919	Function	FMN adenylyltransferase activity	TAS
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	20060505
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005829	Component	Cytosol	IDA	20060505
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006747	Process	FAD biosynthetic process	IBA
GO:0006747	Process	FAD biosynthetic process	IDA	20060505
GO:0006747	Process	FAD biosynthetic process	IEA
GO:0006771	Process	Riboflavin metabolic process	IEA
GO:0006771	Process	Riboflavin metabolic process	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	16189514, 25416956, 31515488, 32296183
GO:0047884	Function	FAD diphosphatase activity	IDA	21951714, 38688286
GO:0072388	Process	Flavin adenine dinucleotide biosynthetic process	IEA

MIM	HGNC	e!Ensembl
610595	24671	ENSG00000160688

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

	KEGG		Reactome
	Riboflavin metabolism Metabolic pathways Biosynthesis of cofactors		Vitamin B2 (riboflavin) metabolism

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
FLAD1-related disorder	Likely pathogenic; Pathogenic	rs771466122	RCV003407734
Multiple acyl-CoA dehydrogenase deficiency	Pathogenic; Likely pathogenic	rs876661314, rs876661313, rs876661315, rs876661312, rs876661310, rs876661311, rs876661309, rs771466122, rs199979286	RCV000223942 RCV000223949 RCV000223946 RCV000223945 RCV000223944 RCV000223939 RCV000223940 RCV000223948 RCV000986423
Myopathy with abnormal lipid metabolism	Pathogenic; Likely pathogenic	rs1657723514, rs876661313, rs876661312, rs876661310, rs876661311, rs876661309, rs771466122, rs1057518160, rs199979286	RCV001542637 RCV000234837 RCV000234836 RCV000234839 RCV000234842 RCV000234840 RCV000234835 RCV001542550 RCV004689943

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign	rs7535144	RCV005904274
Cholangiocarcinoma	Conflicting classifications of pathogenicity	rs150372864	RCV005930217
Clear cell carcinoma of kidney	-	rs2525809800	RCV005931947
Colon adenocarcinoma	Benign	rs7535144	RCV005904272
Colorectal cancer	Benign	rs7535144	RCV005904276
Gastric cancer	Uncertain significance	rs61741145	RCV005922854
Melanoma	Uncertain significance	rs61741145, rs375023842	RCV005922855 RCV005932119
Nonpapillary renal cell carcinoma	Benign	rs7535144	RCV005904273
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs150372864	RCV005930216
Sarcoma	Benign; Uncertain significance	rs2089247, rs375023842	RCV005919802 RCV005932118
Thymoma	Benign	rs2089247, rs7535144	RCV005919804 RCV005904277
Thyroid cancer, nonmedullary, 1	Benign	rs2089247	RCV005919805
Uterine carcinosarcoma	Benign	rs2089247	RCV005919803
Uterine corpus endometrial carcinoma	Benign; -	rs2089247, rs2525794901	RCV005919806 RCV005931959
Uveal melanoma	Benign	rs7535144	RCV005904275

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

FLAD1 (flavin adenine dinucleotide synthetase 1)