FLAD1 - flavin adenine dinucleotide synthetase 1 Gene

Also Known as FAD1; FADS; PP591; LSMFLAD

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 80308

About FLAD1

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:154,983,344-154,993,111 (from NCBI)

This gene has 12 transcripts (splice variants), 214 orthologues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 5.9), lymph node (RPKM 5.8) and 25 other tissues.

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 2008]

FLAD1 Products (4)

mRNA Protein Name
NM_001184891.2 NP_001171820.1 FAD synthase isoform 3
NM_001184892.2 NP_001171821.1 FAD synthase isoform 4
NM_025207.5 NP_079483.3 FAD synthase isoform 1
NM_201398.3 NP_958800.1 FAD synthase isoform 2
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FLAD1 Protein Structure

MoCF_biosynth

MoCF_biosynth: Probable molybdopterin binding domain (114 - 269)

PAPS_reduct

PAPS_reduct: Phosphoadenosine phosphosulfate reductase family (399 - 469)

PAPS_reduct

PAPS_reduct: Phosphoadenosine phosphosulfate reductase family (480 - 553)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 587 a.a.
Protein Preferred Names Protein Names

FAD synthase

  • FAD pyrophosphorylase

FLAD1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
FLAD1 Q8NFF5 REL Homo sapiens Q04864 25416956
Intra
FLAD1 Q8NFF5 REL Homo sapiens Q04864 25416956
Intra
FLAD1 Q8NFF5 TCF4 Homo sapiens P15884 25416956
Intra
FLAD1 Q8NFF5 TCF4 Homo sapiens P15884 25416956
Intra
FLAD1 Q8NFF5 TCF4 Homo sapiens P15884 25416956
Intra
FLAD1 Q8NFF5 SDCBP Homo sapiens O00560 25416956
Intra
FLAD1 Q8NFF5 SDCBP Homo sapiens O00560 25416956
Intra
FLAD1 Q8NFF5 FLAD1 Homo sapiens Q8NFF5 16189514
Intra
FLAD1 Q8NFF5 FXR1 Homo sapiens P51114 21653829
Intra
FLAD1 Q8NFF5 FLAD1 Homo sapiens Q8NFF5 25416956
Intra
FLAD1 Q8NFF5 CDKN1A Homo sapiens P38936
Y2H
21988832
Intra
FLAD1 Q8NFF5 FLAD1 Homo sapiens Q8NFF5 31515488
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
  • LSMFLAD

  • Lipid Storage Myopathy Due To Flad1 Deficiency

  • Myopathy, Lipid Storage, Due To Flavin Adenine Dinucleotide Synthetase Deficiency

Multiple Acyl-Coa Dehydrogenase Deficiency
  • MADD

  • Ethylmalonic-Adipicaciduria

  • Ema

  • Glutaric Acidemia Iia

  • Glutaric Acidemia Iib

  • Ga Ii

  • Glutaric Acidemia Iic

  • Glutaric Acidemia Type 2

  • Glutaric Acidemia Ii

  • Glutaric Aciduria Ii

  • Electron Transfer Flavoprotein Deficiency

  • Glutaric Aciduria Type 2

  • Mad Deficiency

  • Glutaric Acidemia Type Ii

  • Glutaric Aciduria 2

  • Etfa Deficiency

  • Etfb Deficiency

  • Etfdh Deficiency

  • Multiple Acyl Coenzyme A Dehydrogenase Deficiency

  • Ga2

  • Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency

  • Electron Transfer Flavoprotein Dehydrogenase Deficiency

  • Ga 2

  • Glutaric Acidemia 2

  • Glutaric Acidemia, Type 2

  • Glutaric Aciduria, Type 2

  • Mad

  • Multiple Fad Dehydrogenase Deficiency

  • Ethylmalonic Adipic Aciduria

  • Glutaricaciduria Ii

  • Glutaric Aciduria 2a

  • GA2A

  • Gaiia

  • Glutaricaciduria Iia

  • Glutaric Aciduria 2b

  • GA2B

  • Gaiib

  • Glutaricaciduria Iib

  • Glutaric Aciduria 2c

  • GA2C

  • Gaiic

  • Glutaricaciduria Iic

  • Glutaricaciduria, Type Iia

  • Glutaric Acidemia Type 2a

  • Glutaric Acidemia Type 2c

  • Glutaric Aciduria Iia

  • Glutaric Aciduria Iib

  • Glutaric Aciduria Iic

Multiple Acyl-Coa Dehydrogenase Deficiency, Mild Type
  • Glutaric Aciduria Type 2, Mild Type

  • Mad Deficiency, Mild Type

  • Madd, Mild Type

Multiple Acyl-Coa Dehydrogenase Deficiency, Severe Neonatal Type
  • Glutaric Aciduria Type 2, Severe Neonatal Type

  • Mad Deficiency, Severe Neonatal Type

  • Madd, Severe Neonatal Type

Riboflavin Deficiency
  • Ariboflavinosis

  • Maternal Riboflavin Deficiency

  • RBFVD

  • Vitamin B2 Deficiency

  • Hyporiboflavinosis

Brown-Vialetto-Van Laere Syndrome
Fazio-Londe Disease
  • Fazio-Londe Syndrome

  • Riboflavin Transporter Deficiency Neuronopathy

  • Brown-Vialetto-Van Laere Syndrome

  • Progressive Bulbar Palsy Of Childhood

  • Bulbar Palsy, Progressive, Of Childhood

  • Bvvls

  • Pontobulbar Palsy With Deafness

  • Progressive Bulbar Palsy With Sensorineural Deafness

  • Riboflavin Transporter Deficiency

  • FALOND

  • Bulbar Palsy Progressive Of Childhood

  • Bulbar Palsy Of Childhood, Progressive

Progressive Bulbar Palsy
  • Bulbar Palsy, Progressive

  • Progressive Bulbar Atrophy

  • Bulbar Palsy

  • Pbp - [Progressive Bulbar Palsy]

  • Progressive Bulbar Paralysis

  • Bulbar Paralysis

  • Chronic Bulbar Palsy

  • Chronic Bulbar Paralysis

  • Supranuclear Bulbar Paralysis

Cardiomyopathy, Familial Hypertrophic, 9
  • Hypertrophic Cardiomyopathy 9

  • CMH9

  • Cardiomyopathy, Familial Hypertrophic 9

  • Cardiomyopathy, Hypertrophic, Familial, Type 9

Mitochondrial Complex I Deficiency, Nuclear Type 20
  • Acyl-Coa Dehydrogenase 9 Deficiency

  • Acad9 Deficiency

  • MC1DN20

  • Mitochondrial Complex I Deficiency Due To Acad9 Deficiency

  • Nuclear Type Mitochondrial Complex I Deficiency 20

  • Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of

  • Mitochondrial Complex 1 Deficiency Due To Acad9 Deficiency

  • Deficiency Of Acyl-Coa Dehydrogenase Family Member 9

  • Acyl-Coa Dehydrogenase Family, Member 9, Deficiency

Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
  • Mcad Deficiency

  • Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency

  • Acadm Deficiency

  • Acyl-Coa Dehydrogenase, Medium Chain, Deficiency Of

  • Medium Chain Acyl-Coa Dehydrogenase Deficiency

  • ACADMD

  • Mcadh Deficiency

  • Mcadd

  • Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency

  • Acyl-Coa Dehydrogenase Medium-Chain Deficiency

  • Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

  • Medium Chain Acyl Dehydrogenase Deficiency

Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
  • Vlcad Deficiency

  • Very Long Chain Acyl-Coa Dehydrogenase Deficiency

  • Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

  • Lcad Deficiency

  • Very Long-Chain Acyl-Coa Dehydrogenase Deficiency

  • Long Chain Acyl-Coa Dehydrogenase Deficiency

  • ACADVLD

  • Acadl Deficiency

  • Vlcadd

  • Long-Chain Acyl-Coa Dehydrogenase Deficiency

  • Acadvl

  • Acyl-Coa Dehydrogenase Very Long Chain Deficiency

  • Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency

  • Vlcad-C

  • Vlcad-H

  • Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of

  • Acyl-Coa Dehydrogenase Very Long-Chain Deficiency

  • Acyl-Coa Dehydrogenase Long-Chain Deficiency

  • Deficiency, Very Long Chain Acyl-Coa Dehydrogenase

  • Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency

Myopathy
  • Muscular Diseases

  • Myopathies

Mitochondrial Complex I Deficiency, Nuclear Type 1
  • Mitochondrial Complex I Deficiency

  • Nadh:Q(1) Oxidoreductase Deficiency

  • MC1DN1

  • Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Mitochondrial Respiratory Chain Complex I Deficiency

  • Isolated Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Nadh-Coq Reductase Deficiency

  • Isolated Nadh-Ubiquinone Reductase Deficiency

  • Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

  • Nuclear Type Mitochondrial Complex I Deficiency 1

  • Isolated Complex I Deficiency

  • Complex 1 Mitochondrial Respiratory Chain Deficiency

  • Nadh Coenzyme Q Reductase Deficiency

  • Complex I Mitochondrial Respiratory Chain Deficiency

  • Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

  • Nadh:Ubiquinone Oxidoreductase Deficiency

  • Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus FLAD1 VGNC VGNC:107875
Rattus norvegicus FLAD1 RGD RGD:1593292
Macaca mulatta FLAD1 VGNC VGNC:99952
Canis familiaris FLAD1 VGNC VGNC:53481
Mus musculus FLAD1 MGD MGI:2443030
Bos taurus FLAD1 VGNC VGNC:55191
Others FLAD1 NCBI