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UniProtKB - Q8NFF5 (FAD1_HUMAN)

Entry version 163 (23 Feb 2022)
Sequence version 1 (01 Oct 2002)
Previous versions | rss
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Protein

FAD synthase

Gene

FLAD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme.

2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+2 Publications

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=1.5 µM for FMN2 Publications
  2. KM=0.36 µM for FMN (isoform 2)2 Publications
  1. Vmax=6.1 nmol/min/mg enzyme2 Publications
  2. Vmax=3.9 nmol/min/mg enzyme (isoform 2)2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: FAD biosynthesis

This protein is involved in step 1 of the subpathway that synthesizes FAD from FMN. This subpathway is part of the pathway FAD biosynthesis, which is itself part of Cofactor biosynthesis.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes FAD from FMN, the pathway FAD biosynthesis and in Cofactor biosynthesis.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionNucleotidyltransferase, Transferase
LigandATP-binding, FAD, Flavoprotein, FMN, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.7.7.2, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8NFF5

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-196843, Vitamin B2 (riboflavin) metabolism

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		Q8NFF5

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q8NFF5

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00277;UER00407

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
FAD synthase (EC:2.7.7.21 Publication)
Alternative name(s):
FAD pyrophosphorylase
FMN adenylyltransferase
Flavin adenine dinucleotide synthase
Including the following 2 domains:
Molybdenum cofactor biosynthesis protein-like region
FAD synthase region
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FLAD1
ORF Names:PP591
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:24671, FLAD1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610595, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8NFF5

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000160688

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm, Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (LSMFLAD)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, inborn error of metabolism characterized by variable mitochondrial dysfunction. Clinical features range from severe cardiac and respiratory insufficiency with onset in infancy and resulting in early death, to mild muscle weakness with onset in adulthood. Some patients show significant improvement with riboflavin treatment. Analysis of skeletal muscle show multiple mitochondrial respiratory chain deficiency and a lipid storage myopathy in most patients.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077070530R → C in LSMFLAD; decreased protein stability; decreased affinity for FMN; reduced Vmax; decreased FMN adenylyltransferase activity. 1 PublicationCorresponds to variant dbSNP:rs771466122EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...DisGeNETi		80308

MalaCards human disease database

More...MalaCardsi		FLAD1
MIMi255100, phenotype

Open Targets

More...OpenTargetsi		ENSG00000160688

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		394532, Multiple acyl-CoA dehydrogenase deficiency, mild type
394529, Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142671759

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8NFF5, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3879869

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		FLAD1

Domain mapping of disease mutations (DMDM)

More...DMDMi		74751275

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 17MitochondrionSequence analysisAdd BLAST17
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000030273718 – 587FAD synthaseAdd BLAST570

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei106PhosphoserineCombined sources1
Modified residuei378N6-acetyllysine; alternateBy similarity1
Modified residuei378N6-succinyllysine; alternateBy similarity1
Modified residuei563PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8NFF5

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8NFF5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8NFF5

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8NFF5

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8NFF5

PeptideAtlas

More...PeptideAtlasi		Q8NFF5

PRoteomics IDEntifications database

More...PRIDEi		Q8NFF5

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		73297 [Q8NFF5-1]
73298 [Q8NFF5-2]
73299 [Q8NFF5-3]
73300 [Q8NFF5-4]
73301 [Q8NFF5-5]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q8NFF5, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8NFF5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8NFF5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000160688, Expressed in apex of heart and 214 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8NFF5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8NFF5, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000160688, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		123221, 104 interactors

Protein interaction database and analysis system

More...IntActi		Q8NFF5, 36 interactors

Molecular INTeraction database

More...MINTi		Q8NFF5

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000292180

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8NFF5, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8NFF5

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni114 – 205Molybdenum cofactor biosynthesis protein-likeAdd BLAST92
Regioni398 – 555FAD synthaseAdd BLAST158

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The molybdenum cofactor biosynthesis protein-like region may not be functional.

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

In the N-terminal section; belongs to the MoaB/Mog family.Curated
In the C-terminal section; belongs to the PAPS reductase family. FAD1 subfamily.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2644, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000007266

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_030805_8_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8NFF5

Identification of Orthologs from Complete Genome Data

More...OMAi		IGNVIVM

Database of Orthologous Groups

More...OrthoDBi		1437247at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8NFF5

TreeFam database of animal gene trees

More...TreeFami		TF314056

Family and domain databases

Conserved Domains Database

More...CDDi		cd00885, cinA, 1 hit
cd01713, PAPS_reductase, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.50.620, 1 hit
3.40.980.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR012183, FAD_synth_MoaB/Mog-bd
IPR036425, MoaB/Mog-like_dom_sf
IPR001453, MoaB/Mog_dom
IPR002500, PAPS_reduct
IPR014729, Rossmann-like_a/b/a_fold

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00994, MoCF_biosynth, 1 hit
PF01507, PAPS_reduct, 2 hits

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF036620, MPTbdFAD, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00852, MoCF_biosynth, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53218, SSF53218, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NFF5-1) [UniParc]FASTAAdd to basket
Also known as: FADS11 Publication

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGWDLGTRLF QRQEQRSRLS RIWLEKTRVF LEGSTRTPAL PHCLFWLLQV 
        60         70         80         90        100
PSTQDPLFPG YGPQCPVDLA GPPCLRPLFG GLGGYWRALQ RGREGRTMTS 
       110        120        130        140        150
RASELSPGRS VTAGIIIVGD EILKGHTQDT NTFFLCRTLR SLGVQVCRVS 
       160        170        180        190        200
VVPDEVATIA AEVTSFSNRF THVLTAGGIG PTHDDVTFEA VAQAFGDELK 
       210        220        230        240        250
PHPKLEAATK ALGGEGWEKL SLVPSSARLH YGTDPCTGQP FRFPLVSVRN 
       260        270        280        290        300
VYLFPGIPEL LRRVLEGMKG LFQNPAVQFH SKELYVAADE ASIAPILAEA 
       310        320        330        340        350
QAHFGRRLGL GSYPDWGSNY YQVKLTLDSE EEGPLEECLA YLTARLPQGS 
       360        370        380        390        400
LVPYMPNAVE QASEAVYKLA ESGSSLGKKV AGALQTIETS LAQYSLTQLC 
       410        420        430        440        450
VGFNGGKDCT ALLHLFHAAV QRKLPDVPNP LQILYIRSIS PFPELEQFLQ 
       460        470        480        490        500
DTIKRYNLQM LEAEGSMKQA LGELQARHPQ LEAVLMGTRR TDPYSCSLCP 
       510        520        530        540        550
FSPTDPGWPA FMRINPLLDW TYRDIWDFLR QLFVPYCILY DRGYTSLGSR 
       560        570        580 
ENTVRNPALK CLSPGGHPTY RPAYLLENEE EERNSRT
Length:587
Mass (Da):65,266
Last modified:October 1, 2002 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF95918B15D9D8106
GO
Isoform 2 (identifier: Q8NFF5-2) [UniParc]FASTAAdd to basket
Also known as: FADS21 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1-97: Missing.

Show »
Length:490
Mass (Da):54,188
Checksum:i633D7949AB88E059
GO
Isoform 3 (identifier: Q8NFF5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-97: Missing.
     544-587: Missing.

Show »
Length:446
Mass (Da):49,198
Checksum:i2983E4FA84020CDF
GO
Isoform 4 (identifier: Q8NFF5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-30: Missing.
     31-124: LEGSTRTPAL...IIIVGDEILK → MQPSSSTPPLHPYSTDGLIFPFNPQ
     374-393: SSLGKKVAGALQTIETSLAQ → RDLMEEGHYAQSHWWHPRSQ
     394-587: Missing.

Show »
Length:294
Mass (Da):32,369
Checksum:i5CEF3426F7FEDEF5
GO
Isoform 5 (identifier: Q8NFF5-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-30: Missing.
     31-124: LEGSTRTPAL...IIIVGDEILK → MQPSSSTPPLHPYSTDGLIFPFNPQ
     374-437: SSLGKKVAGA...PNPLQILYIR → NYLMFQTPSR...WMGPFPGQQG
     438-587: Missing.

Show »
Length:338
Mass (Da):36,865
Checksum:i2BB52386763E2A9B
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5T196Q5T196_HUMAN
FAD synthase
FLAD1 hCG_20019
456Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5T190Q5T190_HUMAN
FAD synthase
FLAD1
128Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5T191Q5T191_HUMAN
FAD synthase
FLAD1 hCG_20019
170Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077069107P → L1 PublicationCorresponds to variant dbSNP:rs773925274Ensembl.1
Natural variantiVAR_077070530R → C in LSMFLAD; decreased protein stability; decreased affinity for FMN; reduced Vmax; decreased FMN adenylyltransferase activity. 1 PublicationCorresponds to variant dbSNP:rs771466122EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0279471 – 97Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST97
Alternative sequenceiVSP_0279481 – 30Missing in isoform 4 and isoform 5. 2 PublicationsAdd BLAST30
Alternative sequenceiVSP_02794931 – 124LEGST…DEILK → MQPSSSTPPLHPYSTDGLIF PFNPQ in isoform 4 and isoform 5. 2 PublicationsAdd BLAST94
Alternative sequenceiVSP_027950374 – 437SSLGK…ILYIR → NYLMFQTPSRSCISAASPLS LSWNSFYRTLSREQAIPENQ IASPPSEAKGAEEPWMGPFP GQQG in isoform 5. 1 PublicationAdd BLAST64
Alternative sequenceiVSP_027951374 – 393SSLGK…TSLAQ → RDLMEEGHYAQSHWWHPRSQ in isoform 4. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_027952394 – 587Missing in isoform 4. 1 PublicationAdd BLAST194
Alternative sequenceiVSP_027953438 – 587Missing in isoform 5. 1 PublicationAdd BLAST150
Alternative sequenceiVSP_027954544 – 587Missing in isoform 3. 1 PublicationAdd BLAST44

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
DQ458779 mRNA Translation: ABE65383.1
AF481877 mRNA Translation: AAO49318.1
AF520568 mRNA Translation: AAM77338.1
AF218022 mRNA Translation: AAG17264.1
AL451085 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53154.1
CH471121 Genomic DNA Translation: EAW53155.1
CH471121 Genomic DNA Translation: EAW53158.1
CH471121 Genomic DNA Translation: EAW53159.1
BC011378 mRNA Translation: AAH11378.1
BC014012 mRNA Translation: AAH14012.2
BC020253 mRNA Translation: AAH20253.1
BC021096 mRNA Translation: AAH21096.2
BC032323 mRNA Translation: AAH32323.1
U79241 mRNA Translation: AAB50199.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1078.1 [Q8NFF5-1]
CCDS1079.1 [Q8NFF5-2]
CCDS53371.1 [Q8NFF5-3]
CCDS53372.1 [Q8NFF5-4]

NCBI Reference Sequences

More...RefSeqi		NP_001171820.1, NM_001184891.1 [Q8NFF5-3]
NP_001171821.1, NM_001184892.1 [Q8NFF5-4]
NP_079483.3, NM_025207.4 [Q8NFF5-1]
NP_958800.1, NM_201398.2 [Q8NFF5-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000292180; ENSP00000292180; ENSG00000160688
ENST00000315144; ENSP00000317296; ENSG00000160688 [Q8NFF5-2]
ENST00000368431; ENSP00000357416; ENSG00000160688 [Q8NFF5-4]
ENST00000368432; ENSP00000357417; ENSG00000160688 [Q8NFF5-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		80308

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:80308

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000292180.8; ENSP00000292180.3; NM_025207.5; NP_079483.3

UCSC genome browser

More...UCSCi		uc001fgc.4, human [Q8NFF5-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ458779 mRNA Translation: ABE65383.1
AF481877 mRNA Translation: AAO49318.1
AF520568 mRNA Translation: AAM77338.1
AF218022 mRNA Translation: AAG17264.1
AL451085 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53154.1
CH471121 Genomic DNA Translation: EAW53155.1
CH471121 Genomic DNA Translation: EAW53158.1
CH471121 Genomic DNA Translation: EAW53159.1
BC011378 mRNA Translation: AAH11378.1
BC014012 mRNA Translation: AAH14012.2
BC020253 mRNA Translation: AAH20253.1
BC021096 mRNA Translation: AAH21096.2
BC032323 mRNA Translation: AAH32323.1
U79241 mRNA Translation: AAB50199.1
CCDSiCCDS1078.1 [Q8NFF5-1]
CCDS1079.1 [Q8NFF5-2]
CCDS53371.1 [Q8NFF5-3]
CCDS53372.1 [Q8NFF5-4]
RefSeqiNP_001171820.1, NM_001184891.1 [Q8NFF5-3]
NP_001171821.1, NM_001184892.1 [Q8NFF5-4]
NP_079483.3, NM_025207.4 [Q8NFF5-1]
NP_958800.1, NM_201398.2 [Q8NFF5-2]

3D structure databases

SMRiQ8NFF5
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi123221, 104 interactors
IntActiQ8NFF5, 36 interactors
MINTiQ8NFF5
STRINGi9606.ENSP00000292180

Chemistry databases

ChEMBLiCHEMBL3879869

PTM databases

GlyGeniQ8NFF5, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ8NFF5
PhosphoSitePlusiQ8NFF5

Genetic variation databases

BioMutaiFLAD1
DMDMi74751275

Proteomic databases

EPDiQ8NFF5
jPOSTiQ8NFF5
MassIVEiQ8NFF5
MaxQBiQ8NFF5
PaxDbiQ8NFF5
PeptideAtlasiQ8NFF5
PRIDEiQ8NFF5
ProteomicsDBi73297 [Q8NFF5-1]
73298 [Q8NFF5-2]
73299 [Q8NFF5-3]
73300 [Q8NFF5-4]
73301 [Q8NFF5-5]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		34162, 150 antibodies from 24 providers

The DNASU plasmid repository

More...DNASUi		80308

Genome annotation databases

EnsembliENST00000292180; ENSP00000292180; ENSG00000160688
ENST00000315144; ENSP00000317296; ENSG00000160688 [Q8NFF5-2]
ENST00000368431; ENSP00000357416; ENSG00000160688 [Q8NFF5-4]
ENST00000368432; ENSP00000357417; ENSG00000160688 [Q8NFF5-3]
GeneIDi80308
KEGGihsa:80308
MANE-SelectiENST00000292180.8; ENSP00000292180.3; NM_025207.5; NP_079483.3
UCSCiuc001fgc.4, human [Q8NFF5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		80308
DisGeNETi80308

GeneCards: human genes, protein and diseases

More...GeneCardsi		FLAD1
HGNCiHGNC:24671, FLAD1
HPAiENSG00000160688, Low tissue specificity
MalaCardsiFLAD1
MIMi255100, phenotype
610595, gene
neXtProtiNX_Q8NFF5
OpenTargetsiENSG00000160688
Orphaneti394532, Multiple acyl-CoA dehydrogenase deficiency, mild type
394529, Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
PharmGKBiPA142671759
VEuPathDBiHostDB:ENSG00000160688

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2644, Eukaryota
GeneTreeiENSGT00390000007266
HOGENOMiCLU_030805_8_0_1
InParanoidiQ8NFF5
OMAiIGNVIVM
OrthoDBi1437247at2759
PhylomeDBiQ8NFF5
TreeFamiTF314056

Enzyme and pathway databases

UniPathwayiUPA00277;UER00407
BRENDAi2.7.7.2, 2681
PathwayCommonsiQ8NFF5
ReactomeiR-HSA-196843, Vitamin B2 (riboflavin) metabolism
SABIO-RKiQ8NFF5
SignaLinkiQ8NFF5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		80308, 22 hits in 1047 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		FLAD1, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		80308
PharosiQ8NFF5, Tbio

Protein Ontology

More...PROi		PR:Q8NFF5
RNActiQ8NFF5, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000160688, Expressed in apex of heart and 214 other tissues
ExpressionAtlasiQ8NFF5, baseline and differential
GenevisibleiQ8NFF5, HS

Family and domain databases

CDDicd00885, cinA, 1 hit
cd01713, PAPS_reductase, 1 hit
Gene3Di3.40.50.620, 1 hit
3.40.980.10, 1 hit
InterProiView protein in InterPro
IPR012183, FAD_synth_MoaB/Mog-bd
IPR036425, MoaB/Mog-like_dom_sf
IPR001453, MoaB/Mog_dom
IPR002500, PAPS_reduct
IPR014729, Rossmann-like_a/b/a_fold
PfamiView protein in Pfam
PF00994, MoCF_biosynth, 1 hit
PF01507, PAPS_reduct, 2 hits
PIRSFiPIRSF036620, MPTbdFAD, 1 hit
SMARTiView protein in SMART
SM00852, MoCF_biosynth, 1 hit
SUPFAMiSSF53218, SSF53218, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiFAD1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8NFF5
Secondary accession number(s): Q8N5J1
, Q8N686, Q8WU93, Q8WUJ4, Q96CR8, Q99764, Q9HBN6
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: October 1, 2002
Last modified: February 23, 2022
This is version 163 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families
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