FLAD1
FAD synthase
Also known as: FAD1, FAD1_HUMAN, PP591
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8NFF5
- Gene
- FLAD1
- Ensembl
- ENSG00000160688
- Chromosome
- 1
- Canonical length
- 587 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Plasma membrane,Cytosol,Mid piece,Principal piece,End piece
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
587 residues, UniProt reviewed canonical sequence.
>Q8NFF5|FLAD1
1 MGWDLGTRLF QRQEQRSRLS RIWLEKTRVF LEGSTRTPAL PHCLFWLLQV PSTQDPLFPG
61 YGPQCPVDLA GPPCLRPLFG GLGGYWRALQ RGREGRTMTS RASELSPGRS VTAGIIIVGD
121 EILKGHTQDT NTFFLCRTLR SLGVQVCRVS VVPDEVATIA AEVTSFSNRF THVLTAGGIG
181 PTHDDVTFEA VAQAFGDELK PHPKLEAATK ALGGEGWEKL SLVPSSARLH YGTDPCTGQP
241 FRFPLVSVRN VYLFPGIPEL LRRVLEGMKG LFQNPAVQFH SKELYVAADE ASIAPILAEA
301 QAHFGRRLGL GSYPDWGSNY YQVKLTLDSE EEGPLEECLA YLTARLPQGS LVPYMPNAVE
361 QASEAVYKLA ESGSSLGKKV AGALQTIETS LAQYSLTQLC VGFNGGKDCT ALLHLFHAAV
421 QRKLPDVPNP LQILYIRSIS PFPELEQFLQ DTIKRYNLQM LEAEGSMKQA LGELQARHPQ
481 LEAVLMGTRR TDPYSCSLCP FSPTDPGWPA FMRINPLLDW TYRDIWDFLR QLFVPYCILY
541 DRGYTSLGSR ENTVRNPALK CLSPGGHPTY RPAYLLENEE EERNSRTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FLAD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.33
- Highest tissue expression
- 33 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 33 nTPM
- skin: 32 nTPM
- liver: 32 nTPM
- tongue: 30 nTPM
- spleen: 29 nTPM
- heart muscle: 27 nTPM
Single-cell type
- late spermatids: 126 nCPM
- cytotrophoblasts: 54 nCPM
- esophageal basal cells: 50 nCPM
- extravillous trophoblasts: 50 nCPM
- migrating cytotrophoblasts: 46 nCPM
- esophageal suprabasal cells: 41 nCPM
Immune cell
- non-classical monocyte: 42 nTPM
- memory B-cell: 39 nTPM
- MAIT T-cell: 39 nTPM
- plasmacytoid DC: 38 nTPM
- T-reg: 38 nTPM
- myeloid DC: 38 nTPM
Brain region
- thalamus: 21 nTPM
- pons: 20 nTPM
- white matter: 20 nTPM
- midbrain: 20 nTPM
- cerebral cortex: 20 nTPM
- medulla oblongata: 20 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FLAD1.
Disease | AllUniProt
Conditions FLAD1 is implicated in, by any mechanism.
- Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (LSMFLAD) MIM:255100
Disease | GeneticClinVar
31 pathogenic / likely-pathogenic of 371 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Myopathy with abnormal lipid metabolism
- Multiple acyl-CoA dehydrogenase deficiency
- FLAD1-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.59
- gnomAD pLI
- 0.01
- gnomAD missense Z
- 0.58
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 15% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- riboflavin metabolic process
- FAD biosynthetic process
Molecular functions
- ATP binding
- identical protein binding
- FMN adenylyltransferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- MoaB/Mog domain
- Rossmann-like alpha/beta/alpha sandwich fold
- MoaB/Mog-like domain superfamily
- Probable molybdopterin binding domain
- Phosphoadenosine phosphosulphate reductase domain
- Bifunctional FAD diphosphatase/FAD synthase
- FAD synthase, middle domain
- Phosphoadenosine phosphosulfate reductase domain
- FAD synthase, middle domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of FLAD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FLAD1 as an antibody target. Whether an autoantibody or antibody against FLAD1 could matter depends on whether native FLAD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FLAD1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label FLAD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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