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FLAD1 flavin adenine dinucleotide synthetase 1 [ Homo sapiens (human) ]

Gene ID: 80308, updated on 14-Nov-2024

Summary

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Official Symbol
FLAD1provided by HGNC
Official Full Name
flavin adenine dinucleotide synthetase 1provided by HGNC
Primary source
HGNC:HGNC:24671
See related
Ensembl:ENSG00000160688 MIM:610595; AllianceGenome:HGNC:24671
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FAD1; FADS; PP591; LSMFLAD
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]
Expression
Ubiquitous expression in thyroid (RPKM 5.9), lymph node (RPKM 5.8) and 25 other tissues See more
Orthologs
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Genomic context

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See FLAD1 in Genome Data Viewer
Location:
1q21.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (154983344..154993111)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154122705..154132467)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154955820..154965587)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancers GRCh37_chr1:154933865-154934605 and GRCh37_chr1:154934606-154935345 Neighboring gene PYGO2 and SHC1 antisense RNA 1 Neighboring gene SHC adaptor protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154942000-154942550 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154942551-154943101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1800 Neighboring gene microRNA 4258 Neighboring gene CDC28 protein kinase regulatory subunit 1B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154953875-154954472 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154955073-154955670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154958088-154958777 Neighboring gene lens epithelial protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154971857-154972809 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1375 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1379 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154977250-154977922 Neighboring gene zinc finger and BTB domain containing 7B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154980166-154980880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154982382-154983131 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154984631-154985378 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:154989823

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Structural insights into the bifunctional enzyme human FAD synthase. Leo G, et al. Structure, 2024 Jul 11. PMID 38688286
  2. Mutation of Aspartate 238 in FAD Synthase Isoform 6 Increases the Specific Activity by Weakening the FAD Binding. Leone P, et al. Int J Mol Sci, 2019 Dec 9. PMID 31835305, Free PMC Article
  3. FLAD1 is up-regulated in Gastric Cancer and is a potential prediction of prognosis. Hu P, et al. Int J Med Sci, 2020. PMID 32714079, Free PMC Article
  4. FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening. Muru K, et al. Mol Genet Genomic Med, 2019 Sep. PMID 31392824, Free PMC Article
  5. Specific electron transport chain abnormalities in amyotrophic lateral sclerosis. Lin J, et al. J Neurol, 2009 May. PMID 19240958

See all (63) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Structural insights into the bifunctional enzyme human FAD synthase.
    Title: Structural insights into the bifunctional enzyme human FAD synthase.
  2. Retrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2.
    Title: Retrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2.
  3. FLAD1 is up-regulated in Gastric Cancer and is a potential prediction of prognosis.
    Title: FLAD1 is up-regulated in Gastric Cancer and is a potential prediction of prognosis.
  4. FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
    Title: FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
  5. Mutation of Aspartate 238 in FAD Synthase Isoform 6 Increases the Specific Activity by Weakening the FAD Binding.
    Title: Mutation of Aspartate 238 in FAD Synthase Isoform 6 Increases the Specific Activity by Weakening the FAD Binding.
  6. Frameshift mutation in the FADS gene is Associated with Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
    Title: Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
  7. Our data show that a reduction in electron transport proteins, namely FAD synthetase, RFK, CYC1, and SDHB, is seen in patients with ALS.
    Title: Specific electron transport chain abnormalities in amyotrophic lateral sclerosis.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Myopathy with abnormal lipid metabolism
MedGen: C4310822 OMIM: 255100 GeneReviews: Not available
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EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with flavin adenine dinucleotide synthetase homolog (FLAD1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC31803, MGC40255

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables FMN adenylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables FMN adenylyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables FMN adenylyltransferase activity TAS
Traceable Author Statement
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in FAD biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in FAD biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in FAD biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in riboflavin metabolic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
is_active_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in mitochondrial matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion HTP PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
FAD synthase
Names
FAD pyrophosphorylase
FAD-adenylyl transferase
FAD-synthetase
FMN adenylyltransferase
Fad1, flavin adenine dinucleotide synthetase, homolog
NP_001171820.1
NP_001171821.1
NP_079483.3
NP_958800.1
XP_047286896.1
XP_047286897.1
XP_047286901.1
XP_054194845.1
XP_054194846.1
XP_054194847.1
XP_054194848.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042310.1 RefSeqGene

    Range
    5051..14818
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001184891.2 → NP_001171820.1  FAD synthase isoform 3

    See identical proteins and their annotated locations for NP_001171820.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in its 5' and 3' ends and uses a downstream start codon, compared to variant 1. The resulting protein (isoform 3) has a shorter N-terminus and a distinct and shorter C-terminus when it is compared to isoform 1.
    Source sequence(s)
    AF520568, BC011378, DC371856
    Consensus CDS
    CCDS53371.1
    UniProtKB/Swiss-Prot
    Q8NFF5
    Related
    ENSP00000357417.1, ENST00000368432.5
    Conserved Domains (3) summary
    COG1058
    Location:13 → 249
    CinA; Predicted nucleotide-utilizing enzyme related to molybdopterin-biosynthesis enzyme MoeA [General function prediction only]
    cd00885
    Location:15 → 169
    cinA; Competence-damaged protein. CinA is the first gene in the competence- inducible (cin) operon and is thought to be specifically required at some stage in the process of transformation. This domain is closely related to a domain, found in a variety of ...
    cd01713
    Location:301 → 446
    PAPS_reductase; This domain is found in phosphoadenosine phosphosulphate (PAPS) reductase enzymes or PAPS sulphotransferase. PAPS reductase is part of the adenine nucleotide alpha hydrolases superfamily also including N type ATP PPases and ATP sulphurylases. A highly ...

  2. NM_001184892.2 → NP_001171821.1  FAD synthase isoform 4

    See identical proteins and their annotated locations for NP_001171821.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences and initiates translation at an alternate start codon, compared to variant 1. The encoded protein (isoform 4) has a distinct N- and C-termini and is shorter when it is compared to isoform 1.
    Source sequence(s)
    AF218022, DC371856
    Consensus CDS
    CCDS53372.1
    UniProtKB/Swiss-Prot
    Q8NFF5
    Related
    ENSP00000357416.3, ENST00000368431.7
    Conserved Domains (2) summary
    COG1058
    Location:26 → 247
    CinA; Predicted nucleotide-utilizing enzyme related to molybdopterin-biosynthesis enzyme MoeA [General function prediction only]
    cl00451
    Location:26 → 167
    MoCF_BD; MoCF_BD: molybdenum cofactor (MoCF) binding domain (BD). This domain is found a variety of proteins involved in biosynthesis of molybdopterin cofactor, like MoaB, MogA, and MoeA. The domain is presumed to bind molybdopterin.

  3. NM_025207.5 → NP_079483.3  FAD synthase isoform 1

    See identical proteins and their annotated locations for NP_079483.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest protein (isoform 1).
    Source sequence(s)
    AF520568, DC371856
    Consensus CDS
    CCDS1078.1
    UniProtKB/Swiss-Prot
    Q8N5J1, Q8N686, Q8NFF5, Q8WU93, Q8WUJ4, Q96CR8, Q99764, Q9HBN6
    Related
    ENSP00000292180.3, ENST00000292180.8
    Conserved Domains (3) summary
    COG1058
    Location:110 → 346
    CinA; Predicted nucleotide-utilizing enzyme related to molybdopterin-biosynthesis enzyme MoeA [General function prediction only]
    cd00885
    Location:112 → 266
    cinA; Competence-damaged protein. CinA is the first gene in the competence- inducible (cin) operon and is thought to be specifically required at some stage in the process of transformation. This domain is closely related to a domain, found in a variety of ...
    cd01713
    Location:398 → 548
    PAPS_reductase; This domain is found in phosphoadenosine phosphosulphate (PAPS) reductase enzymes or PAPS sulphotransferase. PAPS reductase is part of the adenine nucleotide alpha hydrolases superfamily also including N type ATP PPases and ATP sulphurylases. A highly ...

  4. NM_201398.3 → NP_958800.1  FAD synthase isoform 2

    See identical proteins and their annotated locations for NP_958800.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and uses a downstream start codon, compared to variant 1. The resulting protein (isoform 2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    BC021096, DC371856
    Consensus CDS
    CCDS1079.1
    UniProtKB/Swiss-Prot
    Q8NFF5
    Related
    ENSP00000317296.10, ENST00000315144.14
    Conserved Domains (2) summary
    cd00885
    Location:15 → 169
    cinA; Competence-damaged protein. CinA is the first gene in the competence- inducible (cin) operon and is thought to be specifically required at some stage in the process of transformation. This domain is closely related to a domain, found in a variety of ...
    cd01713
    Location:301 → 451
    PAPS_reductase; This domain is found in phosphoadenosine phosphosulphate (PAPS) reductase enzymes or PAPS sulphotransferase. PAPS reductase is part of the adenine nucleotide alpha hydrolases superfamily also including N type ATP PPases and ATP sulphurylases. A highly ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    154983344..154993111
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430941.1 → XP_047286897.1  FAD synthase isoform X2

  2. XM_047430940.1 → XP_047286896.1  FAD synthase isoform X1

  3. XM_047430945.1 → XP_047286901.1  FAD synthase isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    154122705..154132467
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338871.1 → XP_054194846.1  FAD synthase isoform X2

  2. XM_054338870.1 → XP_054194845.1  FAD synthase isoform X1

  3. XM_054338872.1 → XP_054194847.1  FAD synthase isoform X3

  4. XM_054338873.1 → XP_054194848.1  FAD synthase isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NFF5.1 GenPept UniProtKB/Swiss-Prot:Q8NFF5

Gene LinkOut

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