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

Gene ID: 80308, updated on 5-Aug-2018

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; Vega:OTTHUMG00000037416
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

Genomic context

See FLAD1 in Genome Data Viewer
Location:
1q21.3
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (154983294..154993111)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154955770..154965587)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928120 Neighboring gene SHC adaptor protein 1 Neighboring gene microRNA 4258 Neighboring gene CDC28 protein kinase regulatory subunit 1B Neighboring gene lens epithelial protein Neighboring gene zinc finger and BTB domain containing 7B Neighboring gene DC-STAMP domain containing 2

Genomic regions, transcripts, and products

Expression

  • Project title: 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
MedGen: C4310822 OMIM: 255100 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA 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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC31803, MGC40255

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
FAD synthase
Names
FAD pyrophosphorylase
FAD-synthetase
FMN adenylyltransferase
Fad1, flavin adenine dinucleotide synthetase, homolog
NP_001171820.1
NP_001171821.1
NP_079483.3
NP_958800.1

NCBI Reference Sequences (RefSeq)

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
    5001..14818
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001184891.1NP_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, OTTHUMP00000035549, ENST00000368432.5, OTTHUMT00000091091
    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_001184892.1NP_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, OTTHUMP00000035551, ENST00000368431.7, OTTHUMT00000091093
    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_025207.4NP_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
    Q8NFF5
    Related
    ENSP00000292180.3, OTTHUMP00000035547, ENST00000292180.7, OTTHUMT00000091089
    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_201398.2NP_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, OTTHUMP00000035548, ENST00000315144.14, OTTHUMT00000091090
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    154983294..154993111
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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