Q9NQ40 · S52A3_HUMAN
- ProteinSolute carrier family 52, riboflavin transporter, member 3
- GeneSLC52A3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids469 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Plasma membrane transporter mediating the uptake by cells of the water soluble vitamin B2/riboflavin that plays a key role in biochemical oxidation-reduction reactions of the carbohydrate, lipid, and amino acid metabolism (PubMed:20463145, PubMed:22273710, PubMed:24264046, PubMed:27702554).
Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145).
Humans are unable to synthesize vitamin B2/riboflavin and must obtain it via intestinal absorption (PubMed:20463145).
Catalytic activity
- riboflavin(in) = riboflavin(out)
Activity regulation
Activity is strongly inhibited by riboflavin analogs, such as lumiflavin, flavin mononucleotide (FMN), flavin adenine dinucleotide (FAD), by methylene blue, and to a lesser extent by amiloride. Riboflavin transport is Na+-independent at low pH but significantly reduced by Na+ depletion under neutral pH conditions.
Kinetics
KM | SUBSTRATE | pH | TEMPERATURE[C] | NOTES | EVIDENCE | |
---|---|---|---|---|---|---|
0.98 μM | riboflavin |
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | apical plasma membrane | |
Cellular Component | cytoplasm | |
Cellular Component | nuclear membrane | |
Cellular Component | nucleus | |
Cellular Component | plasma membrane | |
Molecular Function | riboflavin transmembrane transporter activity | |
Biological Process | cellular response to heat | |
Biological Process | flavin adenine dinucleotide biosynthetic process | |
Biological Process | riboflavin metabolic process | |
Biological Process | riboflavin transport | |
Biological Process | sensory perception of sound |
Keywords
- Biological process
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameSolute carrier family 52, riboflavin transporter, member 3
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9NQ40
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Apical cell membrane ; Multi-pass membrane protein
Isoform 1
Cell membrane ; Multi-pass membrane protein
Nucleus membrane ; Multi-pass membrane protein
Isoform 2
Features
Showing features for topological domain, transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 1-2 | Cytoplasmic | ||||
Sequence: MA | ||||||
Transmembrane | 3-23 | Helical | ||||
Sequence: FLMHLLVCVFGMGSWVTINGL | ||||||
Topological domain | 24-43 | Extracellular | ||||
Sequence: WVELPLLVMELPEGWYLPSY | ||||||
Transmembrane | 44-64 | Helical | ||||
Sequence: LTVVIQLANIGPLLVTLLHHF | ||||||
Topological domain | 65-71 | Cytoplasmic | ||||
Sequence: RPSCLSE | ||||||
Transmembrane | 72-92 | Helical | ||||
Sequence: VPIIFTLLGVGTVTCIIFAFL | ||||||
Topological domain | 93-97 | Extracellular | ||||
Sequence: WNMTS | ||||||
Transmembrane | 98-118 | Helical | ||||
Sequence: WVLDGHHSIAFLVLTFFLALV | ||||||
Topological domain | 119-137 | Cytoplasmic | ||||
Sequence: DCTSSVTFLPFMSRLPTYY | ||||||
Transmembrane | 138-158 | Helical | ||||
Sequence: LTTFFVGEGLSGLLPALVALA | ||||||
Topological domain | 159-220 | Extracellular | ||||
Sequence: QGSGLTTCVNVTEISDSVPSPVPTRETDIAQGVPRALVSALPGMEAPLSHLESRYLPAHFSP | ||||||
Transmembrane | 221-241 | Helical | ||||
Sequence: LVFFLLLSIMMACCLVAFFVL | ||||||
Topological domain | 242-292 | Cytoplasmic | ||||
Sequence: QRQPRCWEASVEDLLNDQVTLHSIRPREENDLGPAGTVDSSQGQGYLEEKA | ||||||
Transmembrane | 293-313 | Helical | ||||
Sequence: APCCPAHLAFIYTLVAFVNAL | ||||||
Topological domain | 314-335 | Extracellular | ||||
Sequence: TNGMLPSVQTYSCLSYGPVAYH | ||||||
Transmembrane | 336-356 | Helical | ||||
Sequence: LAATLSIVANPLASLVSMFLP | ||||||
Topological domain | 357-359 | Cytoplasmic | ||||
Sequence: NRS | ||||||
Transmembrane | 360-380 | Helical | ||||
Sequence: LLFLGVLSVLGTCFGGYNMAM | ||||||
Topological domain | 381-396 | Extracellular | ||||
Sequence: AVMSPCPLLQGHWGGE | ||||||
Transmembrane | 397-417 | Helical | ||||
Sequence: VLIVASWVLFSGCLSYVKVML | ||||||
Topological domain | 418-427 | Cytoplasmic | ||||
Sequence: GVVLRDLSRS | ||||||
Transmembrane | 428-448 | Helical | ||||
Sequence: ALLWCGAAVQLGSLLGALLMF | ||||||
Topological domain | 449-469 | Extracellular | ||||
Sequence: PLVNVLRLFSSADFCNLHCPA |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Brown-Vialetto-Van Laere syndrome 1 (BVVLS1)
- Note
- DescriptionA rare neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, which develop over a relatively short period of time in a previously healthy individual. Sensorineural hearing loss may precede the neurological signs. The course is invariably progressive, but the rate of decline is variable within and between families. With disease evolution, long tract signs, lower motor neuron signs, cerebellar ataxia and lower cranial nerve (III-VI) palsies develop, giving rise to a complex picture resembling amyotrophic lateral sclerosis. Diaphragmatic weakness and respiratory compromise are some of the most distressing features, leading to recurrent chest infections and respiratory failure, which are often the cause of patients' demise.
- See alsoMIM:211530
Natural variants in BVVLS1
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_077422 | 17 | W>R | in BVVLS1; loss of riboflavin transport; no effect on localization to cell membrane; does not affect protein abundance; dbSNP:rs797045190 | |
VAR_077423 | 21 | N>S | in BVVLS1; loss of localization to cell membrane; loss of riboflavin transport; dbSNP:rs199588390 | |
VAR_077424 | 28 | P>T | in BVVLS1; loss of localization to cell membrane; loss of riboflavin transport; does not affect protein abundance; dbSNP:rs267606688 | |
VAR_063694 | 36 | E>K | in BVVLS1; loss of localization to cell membrane; loss of riboflavin transport; does not affect protein abundance; dbSNP:rs267606686 | |
VAR_077425 | 58 | V>D | in BVVLS1; dbSNP:rs797045192 | |
VAR_077426 | 71 | E>K | in BVVLS1; loss of localization to cell membrane; loss of riboflavin transport; does not affect protein abundance; dbSNP:rs267606683 | |
VAR_063695 | 132 | R>W | in BVVLS1; loss of localization to cell membrane; loss of riboflavin transport; does not affect protein abundance; dbSNP:rs267606684 | |
VAR_077427 | 220 | P>H | in BVVLS1; uncertain significance; dbSNP:rs797045194 | |
VAR_063696 | 224 | F>L | in BVVLS1; dbSNP:rs267606685 | |
VAR_077428 | 266 | R>W | in BVVLS1; uncertain significance; dbSNP:rs370499474 | |
VAR_077429 | 312 | A>V | in BVVLS1; uncertain significance; dbSNP:rs752218005 | |
VAR_077430 | 319 | P>S | in BVVLS1; uncertain significance; dbSNP:rs797045195 | |
VAR_077431 | 330 | G>V | in BVVLS1; uncertain significance; dbSNP:rs797045196 | |
VAR_077432 | 375 | G>D | in BVVLS1; uncertain significance; dbSNP:rs1219868273 | |
VAR_063700 | 413 | V>A | in BVVLS1; dbSNP:rs267606687 | |
VAR_063701 | 457 | F>L | in BVVLS1; dbSNP:rs779750163 |
Fazio-Londe disease (FALOND)
- Note
- DescriptionA rare neurological disease characterized by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. It may present in childhood with severe neurological deterioration with hypotonia, respiratory insufficiency leading to premature death, or later in life with bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles.
- See alsoMIM:211500
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_077422 | 17 | in BVVLS1; loss of riboflavin transport; no effect on localization to cell membrane; does not affect protein abundance; dbSNP:rs797045190 | |||
Sequence: W → R | ||||||
Natural variant | VAR_077423 | 21 | in BVVLS1; loss of localization to cell membrane; loss of riboflavin transport; dbSNP:rs199588390 | |||
Sequence: N → S | ||||||
Natural variant | VAR_077424 | 28 | in BVVLS1; loss of localization to cell membrane; loss of riboflavin transport; does not affect protein abundance; dbSNP:rs267606688 | |||
Sequence: P → T | ||||||
Natural variant | VAR_063694 | 36 | in BVVLS1; loss of localization to cell membrane; loss of riboflavin transport; does not affect protein abundance; dbSNP:rs267606686 | |||
Sequence: E → K | ||||||
Natural variant | VAR_077425 | 58 | in BVVLS1; dbSNP:rs797045192 | |||
Sequence: V → D | ||||||
Natural variant | VAR_077426 | 71 | in BVVLS1; loss of localization to cell membrane; loss of riboflavin transport; does not affect protein abundance; dbSNP:rs267606683 | |||
Sequence: E → K | ||||||
Natural variant | VAR_053565 | 74 | in dbSNP:rs35655964 | |||
Sequence: I → M | ||||||
Natural variant | VAR_063695 | 132 | in BVVLS1; loss of localization to cell membrane; loss of riboflavin transport; does not affect protein abundance; dbSNP:rs267606684 | |||
Sequence: R → W | ||||||
Natural variant | VAR_053566 | 174 | in dbSNP:rs6054614 | |||
Sequence: D → G | ||||||
Natural variant | VAR_077427 | 220 | in BVVLS1; uncertain significance; dbSNP:rs797045194 | |||
Sequence: P → H | ||||||
Natural variant | VAR_063696 | 224 | in BVVLS1; dbSNP:rs267606685 | |||
Sequence: F → L | ||||||
Natural variant | VAR_077428 | 266 | in BVVLS1; uncertain significance; dbSNP:rs370499474 | |||
Sequence: R → W | ||||||
Natural variant | VAR_053567 | 267 | in dbSNP:rs3746804 | |||
Sequence: P → L | ||||||
Natural variant | VAR_053568 | 278 | in dbSNP:rs3746803 | |||
Sequence: T → M | ||||||
Natural variant | VAR_053569 | 303 | in dbSNP:rs3746802 | |||
Sequence: I → V | ||||||
Natural variant | VAR_077429 | 312 | in BVVLS1; uncertain significance; dbSNP:rs752218005 | |||
Sequence: A → V | ||||||
Natural variant | VAR_077430 | 319 | in BVVLS1; uncertain significance; dbSNP:rs797045195 | |||
Sequence: P → S | ||||||
Mutagenesis | 326 | No effect on cell surface localization. | ||||
Sequence: C → A | ||||||
Natural variant | VAR_077431 | 330 | in BVVLS1; uncertain significance; dbSNP:rs797045196 | |||
Sequence: G → V | ||||||
Natural variant | VAR_063698 | 350 | no effect on riboflavin transport; no effect on localization to cell membrane; dbSNP:rs76947760 | |||
Sequence: L → M | ||||||
Natural variant | VAR_077432 | 375 | in BVVLS1; uncertain significance; dbSNP:rs1219868273 | |||
Sequence: G → D | ||||||
Mutagenesis | 386 | Abolishes cell surface localization. | ||||
Sequence: C → A | ||||||
Natural variant | VAR_063699 | 411 | in dbSNP:rs910857 | |||
Sequence: S → R | ||||||
Natural variant | VAR_063700 | 413 | in BVVLS1; dbSNP:rs267606687 | |||
Sequence: V → A | ||||||
Mutagenesis | 455 | No effect on cell surface localization. | ||||
Sequence: R → A | ||||||
Natural variant | VAR_063701 | 457 | in BVVLS1; dbSNP:rs779750163 | |||
Sequence: F → L | ||||||
Mutagenesis | 463 | Abolishes cell surface localization. | ||||
Sequence: C → A | ||||||
Mutagenesis | 467 | Abolishes cell surface localization. | ||||
Sequence: C → A |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 615 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, glycosylation, modified residue, disulfide bond.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000042636 | 1-469 | Solute carrier family 52, riboflavin transporter, member 3 | |||
Sequence: MAFLMHLLVCVFGMGSWVTINGLWVELPLLVMELPEGWYLPSYLTVVIQLANIGPLLVTLLHHFRPSCLSEVPIIFTLLGVGTVTCIIFAFLWNMTSWVLDGHHSIAFLVLTFFLALVDCTSSVTFLPFMSRLPTYYLTTFFVGEGLSGLLPALVALAQGSGLTTCVNVTEISDSVPSPVPTRETDIAQGVPRALVSALPGMEAPLSHLESRYLPAHFSPLVFFLLLSIMMACCLVAFFVLQRQPRCWEASVEDLLNDQVTLHSIRPREENDLGPAGTVDSSQGQGYLEEKAAPCCPAHLAFIYTLVAFVNALTNGMLPSVQTYSCLSYGPVAYHLAATLSIVANPLASLVSMFLPNRSLLFLGVLSVLGTCFGGYNMAMAVMSPCPLLQGHWGGEVLIVASWVLFSGCLSYVKVMLGVVLRDLSRSALLWCGAAVQLGSLLGALLMFPLVNVLRLFSSADFCNLHCPA | ||||||
Glycosylation | 94 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 168 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Modified residue | 251 | Phosphoserine | ||||
Sequence: S | ||||||
Disulfide bond | 386↔463 | |||||
Sequence: CPLLQGHWGGEVLIVASWVLFSGCLSYVKVMLGVVLRDLSRSALLWCGAAVQLGSLLGALLMFPLVNVLRLFSSADFC |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Predominantly expressed in testis. Highly expressed in small intestine and prostate.
Gene expression databases
Organism-specific databases
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9NQ40 | ATXN3 P54252 | 3 | EBI-25845274, EBI-946046 | |
BINARY | Q9NQ40 | DNM2 P50570-2 | 3 | EBI-25845274, EBI-10968534 | |
BINARY | Q9NQ40 | TOR1A O14656-2 | 3 | EBI-25845274, EBI-25847109 |
Protein-protein interaction databases
Miscellaneous
Structure
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q9NQ40-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- SynonymsSLC52A3a
- Length469
- Mass (Da)50,805
- Last updated2005-11-22 v4
- Checksum239ED67348C93739
Q9NQ40-2
- Name2
- SynonymsSLC52A3b
Computationally mapped potential isoform sequences
There are 4 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A6Q8PFG7 | A0A6Q8PFG7_HUMAN | SLC52A3 | 228 | ||
A0A6Q8PFQ2 | A0A6Q8PFQ2_HUMAN | SLC52A3 | 364 | ||
A0A6Q8PHL2 | A0A6Q8PHL2_HUMAN | SLC52A3 | 44 | ||
A0A6Q8PHL7 | A0A6Q8PHL7_HUMAN | SLC52A3 | 336 |
Features
Showing features for sequence conflict, alternative sequence.
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
KY978478 EMBL· GenBank· DDBJ | AUI80409.1 EMBL· GenBank· DDBJ | mRNA | ||
KY978479 EMBL· GenBank· DDBJ | AUI80410.1 EMBL· GenBank· DDBJ | mRNA | ||
JX478249 EMBL· GenBank· DDBJ | AFS68799.1 EMBL· GenBank· DDBJ | mRNA | ||
AK074650 EMBL· GenBank· DDBJ | BAC11113.1 EMBL· GenBank· DDBJ | mRNA | ||
AK291706 EMBL· GenBank· DDBJ | BAF84395.1 EMBL· GenBank· DDBJ | mRNA | ||
AL118502 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471133 EMBL· GenBank· DDBJ | EAX10658.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471133 EMBL· GenBank· DDBJ | EAX10659.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC009750 EMBL· GenBank· DDBJ | AAH09750.2 EMBL· GenBank· DDBJ | mRNA |