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

    Gene ID: 80308, updated on 3-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Myopathy with abnormal lipid metabolism
    MedGen: C4310822 OMIM: 255100 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in riboflavin metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion HTP PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    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)

    NEW Try the new Transcript table

    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_001184891.2NP_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:13249
      CinA; Predicted nucleotide-utilizing enzyme related to molybdopterin-biosynthesis enzyme MoeA [General function prediction only]
      cd00885
      Location:15169
      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:301446
      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_001184892.2NP_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:26247
      CinA; Predicted nucleotide-utilizing enzyme related to molybdopterin-biosynthesis enzyme MoeA [General function prediction only]
      cl00451
      Location:26167
      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_025207.5NP_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:110346
      CinA; Predicted nucleotide-utilizing enzyme related to molybdopterin-biosynthesis enzyme MoeA [General function prediction only]
      cd00885
      Location:112266
      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:398548
      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_201398.3NP_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:15169
      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:301451
      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_047430941.1XP_047286897.1  FAD synthase isoform X2

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

    3. XM_047430945.1XP_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_054338871.1XP_054194846.1  FAD synthase isoform X2

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

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

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